Variant report

Variant	esv3334811
Chromosome Location	chr11:67415776-67418674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:422)
CpG islands
(count:793)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr11:67416556-67417488	GM12878	blood:	n/a	n/a
2	BCL11A	chr11:67416654-67417245	GM12878	blood:	n/a	chr11:67416891-67416900
3	BCL3	chr11:67416629-67417679	GM12878	blood:	n/a	chr11:67416891-67416900
4	BCL3	chr11:67416602-67417626	GM12878	blood:	n/a	chr11:67416891-67416900
5	BCLAF1	chr11:67417791-67418254	GM12878	blood:	n/a	chr11:67418101-67418115
6	BCLAF1	chr11:67416501-67417143	GM12878	blood:	n/a	chr11:67416891-67416900
7	BHLHE40	chr11:67415669-67415776	GM12878	blood:	n/a	n/a
8	BHLHE40	chr11:67416730-67417113	GM12878	blood:	n/a	n/a
9	BHLHE40	chr11:67417215-67417294	K562	blood:	n/a	n/a
10	BRCA1	chr11:67417041-67417787	GM12878	blood:	n/a	n/a
11	CBX3	chr11:67417207-67417601	K562	blood:	n/a	n/a
12	CEBPB	chr11:67416678-67417514	GM12878	blood:	n/a	n/a
13	CEBPB	chr11:67415694-67415820	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr11:67415717-67415894	GM12878	blood:	n/a	n/a
15	CHD2	chr11:67416690-67417392	GM12878	blood:	n/a	n/a
16	CTCF	chr11:67416380-67416530	GM12872	blood:	n/a	chr11:67416399-67416412 chr11:67416399-67416408 chr11:67416393-67416406
17	CTCF	chr11:67415680-67415830	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr11:67416400-67416550	GM12872	blood:	n/a	n/a
19	CTCF	chr11:67415660-67415810	HRE	kidney:	n/a	n/a
20	CTCF	chr11:67415672-67415833	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr11:67415680-67415830	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr11:67416380-67416530	GM12878	blood:	n/a	chr11:67416399-67416412 chr11:67416399-67416408 chr11:67416393-67416406
23	CTCF	chr11:67415720-67415870	AG04449	skin:	n/a	n/a
24	CTCF	chr11:67415800-67415950	A549	lung:	n/a	n/a
25	CTCF	chr11:67415640-67415790	HEEpiC	esophagus:	n/a	n/a
26	CTCF	chr11:67415700-67415850	GM12870	blood:	n/a	n/a
27	CTCF	chr11:67415660-67415810	GM12871	blood:	n/a	n/a
28	CTCF	chr11:67415680-67415830	GM12870	blood:	n/a	n/a
29	CTCF	chr11:67415234-67416174	A549	lung:	n/a	chr11:67415945-67415958
30	CTCF	chr11:67415660-67415810	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr11:67415724-67415866	Lung_OC	lung:	n/a	n/a
32	CTCF	chr11:67415622-67415996	GM12892	blood:	n/a	chr11:67415945-67415958
33	CTCF	chr11:67415680-67415830	HRE	kidney:	n/a	n/a
34	CTCF	chr11:67415680-67415830	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr11:67415700-67415850	BE2_C	brain:	n/a	n/a
36	CTCF	chr11:67415720-67415870	GM12878	blood:	n/a	n/a
37	CTCF	chr11:67415680-67415830	BJ	skin:	n/a	n/a
38	CTCF	chr11:67415634-67415920	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:67415680-67415830	Caco-2	colon:	n/a	n/a
40	CTCF	chr11:67416360-67416510	GM12874	blood:	n/a	chr11:67416399-67416412 chr11:67416399-67416408 chr11:67416393-67416406
41	CTCF	chr11:67415660-67415810	GM12867	blood:	n/a	n/a
42	CTCF	chr11:67415690-67415867	A549	lung:	n/a	n/a
43	CTCF	chr11:67416320-67416470	GM12864	blood:	n/a	chr11:67416399-67416412 chr11:67416399-67416408 chr11:67416393-67416406
44	CTCF	chr11:67415720-67415870	GM12875	blood:	n/a	n/a
45	CTCF	chr11:67415645-67415908	MCF-7	breast:	n/a	n/a
46	CTCF	chr11:67415660-67415810	BJ	skin:	n/a	n/a
47	CTCF	chr11:67415643-67415911	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr11:67415680-67415830	HL-60	blood:	n/a	n/a
49	CTCF	chr11:67415660-67415810	HCT-116	colon:	n/a	n/a
50	CTCF	chr11:67415513-67415990	K562	blood:	n/a	chr11:67415945-67415958

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67418148-67418198	A549	lung:	n/a
2	chr11:67418140-67418190	GM06990	blood:	n/a
3	chr11:67418310-67418360	SK-N-SH	brain:	n/a
4	chr11:67418405-67418455	HMEC	breast:	n/a
5	chr11:67417958-67418008	HIPEpiC	eye:	n/a
6	chr11:67418291-67418341	PFSK-1	brain:	n/a
7	chr11:67418045-67418095	NHBE	bronchial:	n/a
8	chr11:67418365-67418415	HEK293	kidney:	embryo
9	chr11:67418106-67418156	NH-A	brain:	n/a
10	chr11:67418358-67418408	PFSK-1	brain:	n/a
11	chr11:67418113-67418163	NH-A	brain:	n/a
12	chr11:67418358-67418408	A549	lung:	n/a
13	chr11:67418405-67418455	HCPEpiC	choroid plexus:	n/a
14	chr11:67418148-67418198	HUVEC	blood vessel:	n/a
15	chr11:67418213-67418263	HPAEpiC	pulmonary alveolar:	n/a
16	chr11:67418291-67418341	HMEC	breast:	n/a
17	chr11:67417958-67418008	T-47D	breast:	n/a
18	chr11:67418213-67418263	NH-A	brain:	n/a
19	chr11:67418045-67418095	A549	lung:	n/a
20	chr11:67418045-67418095	T-47D	breast:	n/a
21	chr11:67418358-67418408	PANC-1	pancreas:	n/a
22	chr11:67418113-67418163	SK-N-SH	brain:	n/a
23	chr11:67418315-67418365	HAEpiC	amniotic membrane:	n/a
24	chr11:67418113-67418163	RPTEC	kidney:	n/a
25	chr11:67418315-67418365	SK-N-MC	brain:	n/a
26	chr11:67418291-67418341	A549	lung:	n/a
27	chr11:67418106-67418156	NB4	blood:	n/a
28	chr11:67418113-67418163	HPAEpiC	pulmonary alveolar:	n/a
29	chr11:67418113-67418163	IMR90	lung:	fetal
30	chr11:67418291-67418341	NB4	blood:	n/a
31	chr11:67418405-67418455	HEEpiC	esophagus:	n/a
32	chr11:67418106-67418156	HCT-116	colon:	n/a
33	chr11:67418113-67418163	HEEpiC	esophagus:	n/a
34	chr11:67418140-67418190	HRCEpiC	kidney:	n/a
35	chr11:67418213-67418263	HRPEpiC	eye:	n/a
36	chr11:67418365-67418415	K562	blood:	n/a
37	chr11:67418106-67418156	IMR90	lung:	fetal
38	chr11:67418310-67418360	PrEC	prostate:	n/a
39	chr11:67418365-67418415	CMK	blood:	n/a
40	chr11:67418365-67418415	Hela-S3	cervix:	n/a
41	chr11:67418365-67418415	HRPEpiC	eye:	n/a
42	chr11:67417958-67418008	GM06990	blood:	n/a
43	chr11:67417958-67418008	GM12892	blood:	n/a
44	chr11:67418310-67418360	HIPEpiC	eye:	n/a
45	chr11:67417958-67418008	AG04450	lung:	fetal
46	chr11:67418365-67418415	HRE	kidney:	n/a
47	chr11:67417958-67418008	AG10803	skin:	n/a
48	chr11:67418148-67418198	PANC-1	pancreas:	n/a
49	chr11:67418365-67418415	LNCaP	prostate:	n/a
50	chr11:67418405-67418455	HEK293	kidney:	embryo

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67395494..67399201-chr11:67413492..67416311,3	K562	blood:
2	chr11:67340062..67340769-chr11:67415307..67416088,2	MCF-7	breast:
3	chr11:67275644..67277559-chr11:67415737..67417580,2	K562	blood:
4	chr11:67396434..67397233-chr11:67415377..67416192,2	MCF-7	breast:
5	chr11:67412966..67415782-chr11:67417103..67418705,2	K562	blood:
6	chr11:67412966..67415782-chr11:67417103..67418705,2	K562	blood:
7	chr11:67397789..67398746-chr11:67415579..67416141,2	MCF-7	breast:
8	chr11:67396543..67400484-chr11:67414425..67419634,5	MCF-7	breast:
9	chr11:67415337..67416268-chr11:67458366..67459257,5	MCF-7	breast:
10	chr11:67415991..67416960-chr11:67457830..67458791,2	MCF-7	breast:
11	chr11:67415666..67416189-chr11:67426687..67427517,2	MCF-7	breast:
12	chr11:67415318..67416230-chr11:67426559..67427542,5	MCF-7	breast:

No data

Variant related genes	Relation type
ACY3	TF binding region
ACY3	CpG island
ENSG00000132744	chromatin interactions
ENSG00000167799	chromatin interactions
ENSG00000167797	chromatin interactions

Extended variants
information (count: 190 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373086207	chr11:67415789-67415790	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs190128580	chr11:67415806-67415807	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs77761047	chr11:67415827-67415828	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs112459428	chr11:67415829-67415830	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs369274588	chr11:67415835-67415836	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs75228064	chr11:67415890-67415891	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs571971725	chr11:67415926-67415927	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs552487436	chr11:67415929-67415930	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs564039060	chr11:67415938-67415939	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs117523325	chr11:67415955-67415956	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs116896732	chr11:67415956-67415957	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs568227607	chr11:67415971-67415972	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs542562935	chr11:67415994-67415995	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs535915295	chr11:67416002-67416003	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs140922675	chr11:67416011-67416012	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs561334875	chr11:67416058-67416059	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs149416035	chr11:67416061-67416062	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs539633990	chr11:67416081-67416082	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs187712996	chr11:67416099-67416100	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs576770393	chr11:67416184-67416185	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs144780063	chr11:67416185-67416186	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs2514037	chr11:67416190-67416191	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs34786387	chr11:67416192-67416193	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs148593962	chr11:67416236-67416237	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs142965518	chr11:67416249-67416250	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs371482350	chr11:67416253-67416254	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs2514038	chr11:67416261-67416262	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs559984246	chr11:67416267-67416268	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs374454288	chr11:67416272-67416273	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs78988523	chr11:67416279-67416280	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs545630960	chr11:67416285-67416286	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs75274167	chr11:67416287-67416288	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs531465040	chr11:67416309-67416310	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs143708511	chr11:67416330-67416331	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs2509717	chr11:67416375-67416376	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs529256821	chr11:67416376-67416377	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs547909119	chr11:67416380-67416381	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs566036743	chr11:67416382-67416383	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs540034151	chr11:67416384-67416385	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs551972252	chr11:67416407-67416408	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs376933995	chr11:67416436-67416437	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs192632111	chr11:67416441-67416442	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs12281770	chr11:67416467-67416468	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547977401	chr11:67416496-67416497	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs568090281	chr11:67416540-67416541	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs535105145	chr11:67416578-67416579	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs1111928	chr11:67416608-67416609	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs146803476	chr11:67416621-67416622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs948446	chr11:67416638-67416639	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs557500339	chr11:67416648-67416649	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	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
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67398800-67418600	Weak transcription	Right Atrium	heart
2	chr11:67408000-67417000	Weak transcription	Gastric	stomach
3	chr11:67408200-67416400	Weak transcription	Stomach Mucosa	stomach
4	chr11:67409800-67417000	Weak transcription	HepG2	liver
5	chr11:67410400-67417000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:67410400-67417000	Weak transcription	Liver	Liver
7	chr11:67411600-67417000	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:67411800-67416000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:67411800-67417200	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:67411800-67417600	Enhancers	Pancreas	Pancrea
11	chr11:67411800-67419600	Enhancers	Primary B cells from cord blood	blood
12	chr11:67412200-67420600	Enhancers	Primary hematopoietic stem cells	blood
13	chr11:67412400-67416800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:67412400-67417800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:67412600-67417600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr11:67412800-67418000	Enhancers	Spleen	Spleen
17	chr11:67413000-67417000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:67413000-67417600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:67413200-67417000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:67413400-67417800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr11:67413600-67415800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:67413600-67416400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:67413600-67417400	Genic enhancers	Fetal Intestine Small	intestine
24	chr11:67413600-67417800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr11:67413600-67417800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr11:67413600-67418000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr11:67413800-67418000	Enhancers	Thymus	Thymus
28	chr11:67414000-67417000	Weak transcription	Brain Substantia Nigra	brain
29	chr11:67414200-67416400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
30	chr11:67414200-67416600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
31	chr11:67414400-67415800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:67414400-67417800	Enhancers	Placenta	Placenta
33	chr11:67414600-67415800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:67414600-67415800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr11:67414600-67416200	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr11:67414600-67416400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:67414600-67417000	Weak transcription	Esophagus	oesophagus
38	chr11:67414600-67417400	Enhancers	Fetal Intestine Large	intestine
39	chr11:67414600-67417800	Enhancers	Primary T cells fromperipheralblood	blood
40	chr11:67414600-67417800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr11:67414600-67418000	Enhancers	Fetal Thymus	thymus
42	chr11:67414800-67416600	Weak transcription	Primary T cells from cord blood	blood
43	chr11:67414800-67417000	Enhancers	Dnd41	blood
44	chr11:67414800-67417000	Enhancers	GM12878-XiMat	blood
45	chr11:67414800-67417800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:67415000-67417000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:67415200-67417000	Enhancers	Duodenum Mucosa	Duodenum
48	chr11:67415400-67416600	Weak transcription	Colonic Mucosa	Colon
49	chr11:67415600-67416200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:67415600-67416400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links