Variant report

Variant	esv3348204
Chromosome Location	chr11:68282891-68411839
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1751)
CpG islands
(count:488)
Chromatin interactive
region (count:132)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:1751 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:68347156-68347163	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:68300214-68300881	HepG2	liver:	n/a	n/a
3	ATF1	chr11:68360355-68360555	K562	blood:	n/a	n/a
4	ATF2	chr11:68384285-68384565	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr11:68352694-68352894	H1-hESC	embryonic stem cell:	n/a	chr11:68352766-68352780
6	BACH1	chr11:68351595-68351636	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr11:68301337-68301472	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr11:68346967-68347212	GM12878	blood:	n/a	n/a
9	BCL3	chr11:68346859-68347386	GM12878	blood:	n/a	n/a
10	BHLHE40	chr11:68300207-68300768	HepG2	liver:	n/a	n/a
11	BHLHE40	chr11:68351551-68351879	K562	blood:	n/a	n/a
12	BRCA1	chr11:68351478-68351797	H1-hESC	embryonic stem cell:	n/a	n/a
13	BRCA1	chr11:68323548-68323554	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr11:68293425-68293640	Hela-S3	cervix:	n/a	n/a
15	CCNT2	chr11:68382845-68382930	K562	blood:	n/a	n/a
16	CEBPB	chr11:68283439-68283441	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr11:68283287-68283630	IMR90	lung:	n/a	chr11:68283434-68283445
18	CEBPB	chr11:68283284-68283804	HepG2	liver:	n/a	chr11:68283434-68283445
19	CEBPB	chr11:68300205-68300698	HepG2	liver:	n/a	n/a
20	CEBPB	chr11:68300158-68300583	MCF-7	breast:	n/a	n/a
21	CEBPB	chr11:68350377-68350722	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr11:68368885-68369145	IMR90	lung:	n/a	chr11:68368988-68368997 chr11:68368988-68368997 chr11:68368988-68368997 chr11:68368986-68368997 chr11:68368988-68368999 chr11:68368988-68368997 chr11:68368986-68368999
23	CEBPB	chr11:68320084-68320408	Hela-S3	cervix:	n/a	chr11:68320248-68320259
24	CEBPB	chr11:68320068-68320422	A549	lung:	n/a	chr11:68320248-68320259
25	CEBPB	chr11:68351502-68351962	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr11:68365478-68365496	IMR90	lung:	n/a	n/a
27	CEBPB	chr11:68283340-68283836	A549	lung:	n/a	chr11:68283434-68283445
28	CEBPB	chr11:68370129-68370157	HepG2	liver:	n/a	n/a
29	CEBPB	chr11:68350365-68350946	IMR90	lung:	n/a	n/a
30	CEBPB	chr11:68314113-68314312	A549	lung:	n/a	n/a
31	CEBPB	chr11:68310119-68310492	IMR90	lung:	n/a	n/a
32	CEBPB	chr11:68283264-68283624	K562	blood:	n/a	chr11:68283434-68283445
33	CEBPB	chr11:68342704-68342718	A549	lung:	n/a	n/a
34	CEBPB	chr11:68283381-68283795	Hela-S3	cervix:	n/a	chr11:68283434-68283445
35	CEBPB	chr11:68368858-68369154	A549	lung:	n/a	chr11:68368988-68368997 chr11:68368988-68368997 chr11:68368988-68368997 chr11:68368986-68368997 chr11:68368988-68368999 chr11:68368988-68368997 chr11:68368986-68368999
36	CEBPB	chr11:68320134-68320340	HepG2	liver:	n/a	chr11:68320248-68320259
37	CEBPB	chr11:68368890-68369102	K562	blood:	n/a	chr11:68368988-68368997 chr11:68368988-68368997 chr11:68368988-68368997 chr11:68368986-68368997 chr11:68368988-68368999 chr11:68368988-68368997 chr11:68368986-68368999
38	CEBPB	chr11:68340165-68340315	HepG2	liver:	n/a	chr11:68340260-68340271
39	CEBPB	chr11:68288905-68288929	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr11:68381219-68381290	K562	blood:	n/a	n/a
41	CEBPB	chr11:68368842-68369170	HepG2	liver:	n/a	chr11:68368988-68368997 chr11:68368988-68368997 chr11:68368988-68368997 chr11:68368986-68368997 chr11:68368988-68368999 chr11:68368988-68368997 chr11:68368986-68368999
42	CEBPB	chr11:68400333-68400603	K562	blood:	n/a	n/a
43	CEBPB	chr11:68320168-68320398	K562	blood:	n/a	chr11:68320248-68320259
44	CEBPB	chr11:68320173-68320373	A549	lung:	n/a	chr11:68320248-68320259
45	CEBPD	chr11:68391181-68391602	K562	blood:	n/a	n/a
46	CEBPD	chr11:68375025-68375436	K562	blood:	n/a	n/a
47	CHD2	chr11:68351545-68351798	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr11:68378280-68378430	NHEK	skin:	n/a	chr11:68378370-68378388
49	CTCF	chr11:68351531-68351806	MCF-7	breast:	n/a	chr11:68351656-68351674
50	CTCF	chr11:68411085-68411361	HepG2	liver:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:68377237-68377287	GM12891	blood:	n/a
2	chr11:68384209-68384259	MCF10A-Er-Src	breast:	n/a
3	chr11:68384193-68384243	HRE	kidney:	n/a
4	chr11:68382427-68382477	HEK293	kidney:	embryo
5	chr11:68384247-68384297	BE2_C	brain:	n/a
6	chr11:68384193-68384243	HepG2	liver:	n/a
7	chr11:68310695-68310745	PFSK-1	brain:	n/a
8	chr11:68384209-68384259	NH-A	brain:	n/a
9	chr11:68384247-68384297	HCF	heart:	n/a
10	chr11:68382427-68382477	AG09309	skin:	n/a
11	chr11:68384247-68384297	AG04450	lung:	fetal
12	chr11:68384247-68384297	ProgFib	skin:	n/a
13	chr11:68377237-68377287	MCF-7	breast:	n/a
14	chr11:68384247-68384297	NH-A	brain:	n/a
15	chr11:68384193-68384243	NT2-D1	testis:	n/a
16	chr11:68384193-68384243	SKMC	muscle:	n/a
17	chr11:68384247-68384297	HRPEpiC	eye:	n/a
18	chr11:68381554-68381604	HMEC	breast:	n/a
19	chr11:68377237-68377287	SK-N-MC	brain:	n/a
20	chr11:68310695-68310745	Hepatocyte	liver:	n/a
21	chr11:68350410-68350460	MCF10A-Er-Src	breast:	n/a
22	chr11:68350410-68350460	HIPEpiC	eye:	n/a
23	chr11:68384209-68384259	MCF-7	breast:	n/a
24	chr11:68382427-68382477	PANC-1	pancreas:	n/a
25	chr11:68382427-68382477	HPAEpiC	pulmonary alveolar:	n/a
26	chr11:68350410-68350460	H1-hESC	embryonic stem cell:	embryo
27	chr11:68377237-68377287	AG09319	gingival:	n/a
28	chr11:68310695-68310745	NT2-D1	testis:	n/a
29	chr11:68384193-68384243	HEEpiC	esophagus:	n/a
30	chr11:68384193-68384243	Caco-2	colon:	n/a
31	chr11:68384247-68384297	PANC-1	pancreas:	n/a
32	chr11:68381554-68381604	LNCaP	prostate:	n/a
33	chr11:68350410-68350460	GM12892	blood:	n/a
34	chr11:68384193-68384243	HRCEpiC	kidney:	n/a
35	chr11:68350410-68350460	LNCaP	prostate:	n/a
36	chr11:68381554-68381604	H1-hESC	embryonic stem cell:	embryo
37	chr11:68310695-68310745	PrEC	prostate:	n/a
38	chr11:68384247-68384297	HMEC	breast:	n/a
39	chr11:68381554-68381604	BJ	skin:	n/a
40	chr11:68384209-68384259	SAEC	small airway:	n/a
41	chr11:68382427-68382477	T-47D	breast:	n/a
42	chr11:68384209-68384259	LNCaP	prostate:	n/a
43	chr11:68310695-68310745	HUVEC	blood vessel:	n/a
44	chr11:68384247-68384297	HPAEpiC	pulmonary alveolar:	n/a
45	chr11:68310695-68310745	NHDF-neo	bronchial:	n/a
46	chr11:68350410-68350460	NHDF-neo	bronchial:	n/a
47	chr11:68384247-68384297	ovcar-3	ovarian:	n/a
48	chr11:68377237-68377287	GM12892	blood:	n/a
49	chr11:68310695-68310745	MCF10A-Er-Src	breast:	n/a
50	chr11:68381554-68381604	SAEC	small airway:	n/a

(count:132 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr11:68300219..68301742-chr11:68308824..68310583,2	MCF-7	breast:
2	chr11:68337447..68341541-chr11:68341697..68345653,4	MCF-7	breast:
3	chr11:68410781..68411937-chr11:68565445..68566362,3	MCF-7	breast:
4	chr11:68371783..68376102-chr11:68377874..68383133,6	K562	blood:
5	chr11:68284209..68285871-chr11:68291553..68293421,2	MCF-7	breast:
6	chr11:68286980..68288583-chr11:68292044..68293926,2	K562	blood:
7	chr11:68345441..68349063-chr11:68349370..68352338,3	MCF-7	breast:
8	chr11:68277880..68279526-chr11:68284707..68286810,2	K562	blood:
9	chr11:68298372..68300264-chr11:68312543..68314090,2	MCF-7	breast:
10	chr11:68400378..68400956-chr11:68855833..68856663,2	K562	blood:
11	chr11:68368469..68371372-chr11:68371596..68374117,3	K562	blood:
12	chr11:68300219..68301742-chr11:68308824..68310583,2	MCF-7	breast:
13	chr11:68334224..68337075-chr11:68354866..68356879,2	K562	blood:
14	chr11:68228026..68228655-chr11:68351562..68352150,2	HCT-116	colon:
15	chr11:68371206..68373114-chr11:68373650..68376270,2	MCF-7	breast:
16	chr11:68312850..68315116-chr11:68319769..68322126,2	K562	blood:
17	chr11:68371917..68374314-chr11:68378485..68380168,2	K562	blood:
18	chr11:68228369..68230583-chr11:68347336..68349286,2	MCF-7	breast:
19	chr11:68305109..68307127-chr11:69485059..69487954,2	MCF-7	breast:
20	chr11:68306937..68308679-chr11:68348704..68351247,2	K562	blood:
21	chr11:68296455..68299790-chr11:68302079..68305805,5	MCF-7	breast:
22	chr11:68400175..68400936-chr11:68495016..68495727,2	MCF-7	breast:
23	chr11:68294569..68297072-chr11:68302810..68305655,2	K562	blood:
24	chr11:68332127..68334202-chr11:68341163..68343837,2	MCF-7	breast:
25	chr11:68387155..68388983-chr11:68408036..68409715,2	MCF-7	breast:
26	chr11:68273387..68276350-chr11:68281401..68283476,2	K562	blood:
27	chr11:68247315..68249122-chr11:68293353..68295146,2	K562	blood:
28	chr11:68298372..68300264-chr11:68312543..68314090,2	MCF-7	breast:
29	chr11:68371303..68373283-chr11:68380791..68382427,2	K562	blood:
30	chr11:68226755..68229089-chr11:68350474..68353083,2	K562	blood:
31	chr11:67981478..67983630-chr11:68294229..68297212,2	MCF-7	breast:
32	chr11:68341428..68343456-chr11:68357720..68359630,3	K562	blood:
33	chr11:68324963..68327580-chr11:68329924..68332655,2	K562	blood:
34	chr11:68342166..68344146-chr11:68345413..68347616,3	K562	blood:
35	chr11:68369934..68372932-chr11:68374850..68377808,2	K562	blood:
36	chr11:68294325..68295955-chr11:68298713..68301491,2	MCF-7	breast:
37	chr11:68277247..68280237-chr11:68281638..68283353,2	MCF-7	breast:
38	chr11:68337484..68339031-chr11:68341269..68342985,2	MCF-7	breast:
39	chr11:68273861..68275803-chr11:68294083..68295941,2	MCF-7	breast:
40	chr11:68399359..68401842-chr11:68855467..68857380,2	MCF-7	breast:
41	chr11:68236521..68239221-chr11:68297356..68298866,2	K562	blood:
42	chr11:68324963..68327580-chr11:68329924..68332655,2	K562	blood:
43	chr11:68227166..68229469-chr11:68283239..68284838,2	MCF-7	breast:
44	chr11:68294325..68295955-chr11:68298713..68301491,2	MCF-7	breast:
45	chr11:68342166..68344146-chr11:68345413..68347616,3	K562	blood:
46	chr11:68227855..68229553-chr11:68312062..68313959,2	MCF-7	breast:
47	chr11:68400417..68400956-chr11:68811436..68811940,2	MCF-7	breast:
48	chr11:68356995..68359552-chr11:68362485..68365524,4	K562	blood:
49	chr11:68347295..68351656-chr11:68353371..68355649,3	MCF-7	breast:
50	chr11:68301595..68304272-chr11:68304634..68307122,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTL5-1	chr11:68383260-68383487	ENSG00000260808.1
2	lnc-MTL5-1	chr11:68383213-68383487	ENSG00000260808.1
3	lnc-MTL5-1	chr11:68383657-68383915	ENSG00000260808.1
4	lnc-MTL5-1	chr11:68383657-68383754	ENSG00000260808.1
5	lnc-MTL5-1	chr11:68380367-68380689	ENSG00000260808.1
6	lnc-MTL5-1	chr11:68383350-68383487	ENSG00000260808.1
7	lnc-MTL5-1	chr11:68383943-68384179	ENSG00000260808.1
8	lnc-MTL5-1	chr11:68383657-68383698	ENSG00000260808.1

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PPP6R3	hsa-miR-20a-5p	chr11:68381863-68381869
2	SAPS3	hsa-miR-130b-3p	chr11:68381846-68381868
3	SAPS3	hsa-miR-130b-3p	chr11:68380755-68380776
4	SAPS3	hsa-miR-20a-5p	chr11:68381848-68381870

Variant related genes	Relation type
PPP6R3	TF binding region
ENSG00000260808	TF binding region
ENSG00000266854	TF binding region
PPP6R3	CpG island
ENSG00000260808	CpG island
ENSG00000266854	CpG island
ENSG00000110075	chromatin interactions
ENSG00000260808	chromatin interactions
ENSG00000132749	chromatin interactions
ENSG00000212093	chromatin interactions
ENSG00000149716	chromatin interactions
ENSG00000200997	chromatin interactions

Extended variants
information (count: 5367 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:5367 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576101368	chr11:68282898-68282899	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs536997841	chr11:68282899-68282900	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs181419170	chr11:68282905-68282906	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs10580605	chr11:68282934-68282935	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs61889588	chr11:68282938-68282939	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78281887	chr11:68282949-68282950	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370335580	chr11:68282958-68282959	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs573817941	chr11:68282966-68282967	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs541241097	chr11:68282973-68282974	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs73518807	chr11:68282986-68282987	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577751667	chr11:68282989-68282990	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs186427500	chr11:68283011-68283012	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs537297599	chr11:68283020-68283021	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs530819781	chr11:68283070-68283071	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs551930866	chr11:68283071-68283072	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs147464961	chr11:68283151-68283152	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs528753787	chr11:68283191-68283192	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs547204730	chr11:68283239-68283240	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs139895339	chr11:68283243-68283244	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs530724283	chr11:68283259-68283260	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs190036131	chr11:68283270-68283271	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs542995	chr11:68283376-68283377	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs201116855	chr11:68283378-68283379	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs117837240	chr11:68283392-68283393	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs376303434	chr11:68283393-68283394	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs555034710	chr11:68283401-68283402	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs665382	chr11:68283452-68283453	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534569481	chr11:68283592-68283593	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs111644191	chr11:68283611-68283612	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs534600297	chr11:68283618-68283619	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs73521406	chr11:68283619-68283620	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs114296808	chr11:68283624-68283625	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs544758061	chr11:68283636-68283637	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs76791745	chr11:68283649-68283650	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs145331391	chr11:68283684-68283685	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs552953504	chr11:68283701-68283702	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs375601875	chr11:68283707-68283708	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs543032368	chr11:68283726-68283727	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs151065360	chr11:68283731-68283732	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs528820062	chr11:68283738-68283739	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs11228266	chr11:68283744-68283745	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs540565702	chr11:68283754-68283755	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs568402136	chr11:68283794-68283795	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs565530073	chr11:68283832-68283833	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs532762870	chr11:68283908-68283909	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs551160488	chr11:68283926-68283927	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs569788444	chr11:68283939-68283940	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530499524	chr11:68283940-68283941	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs548998148	chr11:68283948-68283949	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs185161305	chr11:68283971-68283972	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21373257	CNVD
speech delay	21373257	CNVD
small cell lung cancer	17426248	CNVD
Gastric cancer	18160780	CNVD
Lung cancer	21569311	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	20459607	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Breast cancer	17850661	CNVD
Human papillomavirus	17975027	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17160897	CNVD
Esophageal squamous carcinoma	18405350	CNVD

Chromatin state (count:4153 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68238600-68287800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:68256600-68287200	Weak transcription	NHEK	skin
3	chr11:68265200-68302600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:68267200-68283000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:68267200-68287800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:68267400-68287000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:68268600-68290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:68268600-68303800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:68271000-68294600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:68271200-68287400	Weak transcription	Spleen	Spleen
11	chr11:68271200-68287600	Weak transcription	Colonic Mucosa	Colon
12	chr11:68271200-68289000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:68271600-68287200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:68271600-68287200	Weak transcription	Brain Germinal Matrix	brain
15	chr11:68272200-68283000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:68272400-68287200	Weak transcription	Esophagus	oesophagus
17	chr11:68272400-68287800	Weak transcription	Aorta	Aorta
18	chr11:68272400-68289400	Weak transcription	NHLF	lung
19	chr11:68272400-68291000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:68272600-68284200	Weak transcription	A549	lung
21	chr11:68273800-68283000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr11:68273800-68288600	Weak transcription	HSMMtube	muscle
23	chr11:68274400-68296000	Weak transcription	Stomach Mucosa	stomach
24	chr11:68276000-68287800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:68276000-68305600	Weak transcription	Fetal Brain Male	brain
26	chr11:68276200-68290200	Weak transcription	Fetal Brain Female	brain
27	chr11:68276600-68285000	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:68276600-68286800	Weak transcription	NH-A	brain
29	chr11:68276600-68287000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:68276600-68287000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:68276600-68304000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:68276800-68283000	Weak transcription	Fetal Kidney	kidney
33	chr11:68276800-68284600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:68276800-68285800	Weak transcription	Brain Anterior Caudate	brain
35	chr11:68276800-68286400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:68276800-68287000	Weak transcription	Adipose Nuclei	Adipose
37	chr11:68276800-68288800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:68276800-68290600	Weak transcription	Brain Angular Gyrus	brain
39	chr11:68277000-68283000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:68277000-68283400	Weak transcription	Fetal Lung	lung
41	chr11:68277000-68283600	Weak transcription	Osteobl	bone
42	chr11:68277000-68287400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:68277200-68289000	Weak transcription	NHDF-Ad	bronchial
44	chr11:68277200-68289600	Weak transcription	Fetal Heart	heart
45	chr11:68277400-68292200	Weak transcription	Right Ventricle	heart
46	chr11:68277600-68336000	Strong transcription	Dnd41	blood
47	chr11:68278000-68287200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:68278200-68284200	Strong transcription	Hela-S3	cervix
49	chr11:68278200-68287200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:68278400-68283000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links