Variant report

Variant	nsv822094
Chromosome Location	chr3:53059674-53096460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1052)
CpG islands
(count:552)
Chromatin interactive
region (count:32)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1052 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:53079923-53080078	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:53090521-53090927	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:53074378-53074816	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:53066637-53066919	HepG2	liver:	n/a	n/a
5	ATF2	chr3:53080591-53080904	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr3:53080620-53080928	GM12878	blood:	n/a	n/a
7	BACH1	chr3:53085995-53086184	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr3:53065056-53065448	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr3:53079417-53081172	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr3:53078839-53078970	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCLAF1	chr3:53079955-53080354	GM12878	blood:	n/a	n/a
12	BCLAF1	chr3:53080452-53080983	GM12878	blood:	n/a	n/a
13	BCLAF1	chr3:53078329-53079258	GM12878	blood:	n/a	n/a
14	BHLHE40	chr3:53090633-53090756	K562	blood:	n/a	n/a
15	BHLHE40	chr3:53079792-53080082	K562	blood:	n/a	n/a
16	BHLHE40	chr3:53080387-53080740	A549	lung:	n/a	n/a
17	BHLHE40	chr3:53080388-53080805	K562	blood:	n/a	n/a
18	BHLHE40	chr3:53079770-53081260	GM12878	blood:	n/a	n/a
19	BRCA1	chr3:53090665-53090674	HepG2	liver:	n/a	n/a
20	CCNT2	chr3:53079023-53080645	K562	blood:	n/a	chr3:53080122-53080131
21	CEBPB	chr3:53074601-53074898	HepG2	liver:	n/a	n/a
22	CEBPB	chr3:53060696-53061014	H1-hESC	embryonic stem cell:	n/a	chr3:53060872-53060883
23	CEBPB	chr3:53084000-53084381	HepG2	liver:	n/a	n/a
24	CEBPB	chr3:53060779-53061025	HepG2	liver:	n/a	chr3:53060872-53060883
25	CEBPB	chr3:53084050-53084271	HepG2	liver:	n/a	n/a
26	CEBPB	chr3:53084000-53084311	HepG2	liver:	n/a	n/a
27	CEBPB	chr3:53074242-53074861	Hela-S3	cervix:	n/a	chr3:53074381-53074392 chr3:53074381-53074392
28	CEBPB	chr3:53067264-53067276	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr3:53084039-53084293	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr3:53073480-53073654	HepG2	liver:	n/a	n/a
31	CEBPB	chr3:53060857-53060870	K562	blood:	n/a	n/a
32	CEBPB	chr3:53060839-53060890	A549	lung:	n/a	chr3:53060872-53060883
33	CEBPD	chr3:53079153-53079403	HepG2	liver:	n/a	n/a
34	CEBPD	chr3:53082869-53083135	K562	blood:	n/a	n/a
35	CEBPD	chr3:53082863-53083128	K562	blood:	n/a	n/a
36	CEBPD	chr3:53079891-53080235	HepG2	liver:	n/a	n/a
37	CHD1	chr3:53080449-53080979	GM12878	blood:	n/a	n/a
38	CHD1	chr3:53079807-53080192	GM12878	blood:	n/a	chr3:53080160-53080170
39	CHD1	chr3:53080619-53080659	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD1	chr3:53079000-53079253	GM12878	blood:	n/a	n/a
41	CHD2	chr3:53080493-53080969	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr3:53079452-53079597	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr3:53079835-53080238	K562	blood:	n/a	chr3:53080160-53080170
44	CHD2	chr3:53079844-53080219	Hela-S3	cervix:	n/a	chr3:53080160-53080170
45	CHD2	chr3:53080423-53081123	GM12878	blood:	n/a	n/a
46	CHD2	chr3:53079807-53080211	GM12878	blood:	n/a	chr3:53080160-53080170
47	CREB1	chr3:53079009-53079348	A549	lung:	n/a	n/a
48	CREB1	chr3:53079985-53080258	A549	lung:	n/a	n/a
49	CREB1	chr3:53080497-53081113	A549	lung:	n/a	n/a
50	CREB1	chr3:53079608-53080444	HepG2	liver:	n/a	n/a

(count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:53080440-53080490	AG04450	lung:	fetal
2	chr3:53084209-53084259	SK-N-SH	brain:	n/a
3	chr3:53079105-53079155	AG04449	skin:	fetal
4	chr3:53080440-53080490	AG04450	lung:	fetal
5	chr3:53084209-53084259	SK-N-SH	brain:	n/a
6	chr3:53079105-53079155	AG04449	skin:	fetal
7	chr3:53078990-53079040	GM12878	blood:	n/a
8	chr3:53080682-53080732	Hela-S3	cervix:	n/a
9	chr3:53078218-53078268	NH-A	brain:	n/a
10	chr3:53080682-53080732	GM12892	blood:	n/a
11	chr3:53078990-53079040	H1-hESC	embryonic stem cell:	embryo
12	chr3:53080176-53080226	HEK293	kidney:	embryo
13	chr3:53075834-53075884	NT2-D1	testis:	n/a
14	chr3:53079105-53079155	HPAEpiC	pulmonary alveolar:	n/a
15	chr3:53078218-53078268	PANC-1	pancreas:	n/a
16	chr3:53079105-53079155	HEK293	kidney:	embryo
17	chr3:53080682-53080732	SKMC	muscle:	n/a
18	chr3:53078990-53079040	HCF	heart:	n/a
19	chr3:53080440-53080490	AG10803	skin:	n/a
20	chr3:53079796-53079846	H1-hESC	embryonic stem cell:	embryo
21	chr3:53078218-53078268	GM12891	blood:	n/a
22	chr3:53078218-53078268	SK-N-SH_RA	brain:	n/a
23	chr3:53080176-53080226	HUVEC	blood vessel:	n/a
24	chr3:53080440-53080490	SKMC	muscle:	n/a
25	chr3:53078218-53078268	HepG2	liver:	n/a
26	chr3:53075834-53075884	SK-N-MC	brain:	n/a
27	chr3:53079796-53079846	HIPEpiC	eye:	n/a
28	chr3:53079796-53079846	AG10803	skin:	n/a
29	chr3:53079105-53079155	A549	lung:	n/a
30	chr3:53079796-53079846	GM06990	blood:	n/a
31	chr3:53075834-53075884	HEK293	kidney:	embryo
32	chr3:53078218-53078268	HMEC	breast:	n/a
33	chr3:53080440-53080490	ProgFib	skin:	n/a
34	chr3:53075834-53075884	IMR90	lung:	fetal
35	chr3:53079796-53079846	ovcar-3	ovarian:	n/a
36	chr3:53084209-53084259	PFSK-1	brain:	n/a
37	chr3:53080682-53080732	HCPEpiC	choroid plexus:	n/a
38	chr3:53075834-53075884	HRE	kidney:	n/a
39	chr3:53079105-53079155	BJ	skin:	n/a
40	chr3:53079796-53079846	GM12891	blood:	n/a
41	chr3:53080440-53080490	MCF10A-Er-Src	breast:	n/a
42	chr3:53080440-53080490	HCPEpiC	choroid plexus:	n/a
43	chr3:53075834-53075884	HIPEpiC	eye:	n/a
44	chr3:53079105-53079155	Hela-S3	cervix:	n/a
45	chr3:53075834-53075884	CMK	blood:	n/a
46	chr3:53078990-53079040	Caco-2	colon:	n/a
47	chr3:53084209-53084259	PrEC	prostate:	n/a
48	chr3:53075834-53075884	ovcar-3	ovarian:	n/a
49	chr3:53078990-53079040	BE2_C	brain:	n/a
50	chr3:53075834-53075884	AG09309	skin:	n/a

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:53079254..53081173-chr3:53081236..53082757,2	MCF-7	breast:
2	chr3:53089913..53093845-chr3:53106258..53110286,4	K562	blood:
3	chr3:53069872..53071542-chr3:53073094..53075949,2	K562	blood:
4	chr3:53056126..53058134-chr3:53061359..53063994,2	K562	blood:
5	chr3:53072702..53076307-chr3:53077847..53082050,5	MCF-7	breast:
6	chr3:52973930..52976171-chr3:53081053..53083269,2	MCF-7	breast:
7	chr3:53065348..53067602-chr3:53078678..53080712,2	MCF-7	breast:
8	chr3:53047316..53051698-chr3:53056732..53062167,5	MCF-7	breast:
9	chr3:53060296..53062382-chr3:53075868..53077771,2	MCF-7	breast:
10	chr3:53058305..53060040-chr3:53077970..53080050,2	K562	blood:
11	chr3:53059584..53062030-chr3:53075790..53077753,2	K562	blood:
12	chr3:53091998..53093845-chr3:53107358..53110286,2	K562	blood:
13	chr3:53068314..53070606-chr3:53078738..53080578,2	MCF-7	breast:
14	chr3:53069872..53071542-chr3:53073094..53075949,2	K562	blood:
15	chr3:53058305..53064318-chr3:53075790..53081540,9	K562	blood:
16	chr3:53078502..53082899-chr3:53088396..53093067,6	K562	blood:
17	chr3:53066267..53068975-chr3:53075224..53077291,2	K562	blood:
18	chr3:53085682..53086543-chr3:53106733..53107482,2	MCF-7	breast:
19	chr3:53060296..53062382-chr3:53075868..53077771,2	MCF-7	breast:
20	chr3:53066267..53068975-chr3:53075224..53077291,2	K562	blood:
21	chr3:52964018..52964668-chr3:53072552..53073141,2	MCF-7	breast:
22	chr3:53064347..53066735-chr3:53078484..53080283,2	K562	blood:
23	chr19:46273919..46274424-chr3:53078893..53079893,2	Hela-S3	cervix:
24	chr3:53071101..53072947-chr3:53077681..53080413,2	K562	blood:
25	chr3:53059584..53062030-chr3:53075790..53077753,2	K562	blood:
26	chr3:53077653..53079153-chr3:53079208..53080925,2	K562	blood:
27	chr3:53071049..53072587-chr3:53078204..53080217,2	MCF-7	breast:
28	chr3:53074151..53077350-chr3:53077899..53081125,4	K562	blood:
29	chr3:52888069..52891024-chr3:53081330..53083131,2	K562	blood:
30	chr3:53079254..53083085-chr3:53089108..53091913,3	K562	blood:
31	chr20:33999620..34000214-chr3:53080089..53080662,2	Hela-S3	cervix:
32	chr3:53061590..53065851-chr3:53079689..53082481,4	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RFT1-5	chr3:53079832-53080073	NONHSAT089976
2	lnc-PRKCD-2	chr3:53080091-53082182	NONHSAT089977
3	lnc-RFT1-5	chr3:53077152-53077270	NONHSAT089976
4	lnc-SFMBT1-1	chr3:53093658-53094908	l_2369_chr3:53093657-53096607_testes
5	lnc-RFT1-5	chr3:53080476-53080766	NONHSAT089975
6	lnc-RFT1-5	chr3:53077152-53077270	NONHSAT089975

No data

Variant related genes	Relation type
ENSG00000266635	TF binding region
SFMBT1	TF binding region
ENSG00000266635	CpG island
SFMBT1	CpG island
ENSG00000163935	chromatin interactions
ENSG00000267395	chromatin interactions
ENSG00000101019	chromatin interactions

Extended variants
information (count: 1169 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1169 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535285042	chr3:53059733-53059734	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs368100275	chr3:53059740-53059741	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145757435	chr3:53059743-53059744	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574794680	chr3:53059747-53059748	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs138693276	chr3:53059821-53059822	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182127996	chr3:53059842-53059843	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532183901	chr3:53059879-53059880	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142703256	chr3:53059947-53059948	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs35609524	chr3:53059991-53059992	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546014979	chr3:53060002-53060003	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559786924	chr3:53060006-53060007	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs528724988	chr3:53060012-53060013	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs542408784	chr3:53060027-53060028	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561903663	chr3:53060097-53060098	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs550652461	chr3:53060120-53060121	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs72965359	chr3:53060165-53060166	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568973583	chr3:53060174-53060175	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569347510	chr3:53060257-53060258	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs146948586	chr3:53060272-53060273	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552034235	chr3:53060334-53060335	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs565772013	chr3:53060387-53060388	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536028270	chr3:53060390-53060391	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs137994767	chr3:53060403-53060404	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs115114860	chr3:53060407-53060408	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs149398344	chr3:53060411-53060412	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs76066201	chr3:53060414-53060415	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs144805832	chr3:53060422-53060423	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs186061830	chr3:53060439-53060440	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs546173513	chr3:53060441-53060442	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs386660966	chr3:53060449-53060450	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs2581781	chr3:53060450-53060451	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs370347161	chr3:53060517-53060518	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577576929	chr3:53060533-53060534	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs34353860	chr3:53060553-53060554	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs66750626	chr3:53060554-53060555	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530994506	chr3:53060566-53060567	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs544547286	chr3:53060586-53060587	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs150414664	chr3:53060598-53060599	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs2255107	chr3:53060637-53060638	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs190931020	chr3:53060653-53060654	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs552161885	chr3:53060688-53060689	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs181202814	chr3:53060719-53060720	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs528211384	chr3:53060765-53060766	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs548284056	chr3:53060819-53060820	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs185808422	chr3:53060852-53060853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112887285	chr3:53060853-53060854	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568296293	chr3:53060886-53060887	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs35695726	chr3:53060907-53060908	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs368591991	chr3:53060908-53060909	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575348831	chr3:53060923-53060924	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:1062 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53025600-53061600	Weak transcription	Lung	lung
2	chr3:53027600-53061600	Weak transcription	Liver	Liver
3	chr3:53033000-53078400	Weak transcription	Aorta	Aorta
4	chr3:53033800-53060400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:53033800-53065000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:53037000-53065000	Weak transcription	Fetal Intestine Small	intestine
7	chr3:53040800-53065000	Weak transcription	Fetal Intestine Large	intestine
8	chr3:53043800-53064800	Weak transcription	Stomach Mucosa	stomach
9	chr3:53044600-53065000	Weak transcription	Gastric	stomach
10	chr3:53045200-53061400	Weak transcription	Fetal Heart	heart
11	chr3:53045400-53061600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:53045800-53061400	Weak transcription	HepG2	liver
13	chr3:53048800-53077800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:53049200-53059800	Weak transcription	Pancreas	Pancrea
15	chr3:53050600-53062000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:53052000-53064800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:53053000-53063600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:53053800-53061600	Weak transcription	Ovary	ovary
19	chr3:53054000-53070600	Weak transcription	Right Ventricle	heart
20	chr3:53054400-53059800	Weak transcription	Primary B cells from cord blood	blood
21	chr3:53054400-53064800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr3:53055600-53060800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:53056600-53065000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:53056600-53077800	Weak transcription	Fetal Stomach	stomach
25	chr3:53057000-53060000	Enhancers	Dnd41	blood
26	chr3:53057400-53065000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr3:53057600-53059800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:53057600-53061400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:53057800-53060400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr3:53057800-53063600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr3:53057800-53063600	Weak transcription	Primary T cells from cord blood	blood
32	chr3:53057800-53063600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr3:53057800-53063800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr3:53057800-53064600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr3:53058000-53059800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:53058000-53059800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:53058000-53060400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr3:53058000-53060600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr3:53058000-53061200	Weak transcription	HUVEC	blood vessel
40	chr3:53058000-53062800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr3:53058200-53059800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:53058200-53061600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:53058400-53061200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr3:53058600-53060000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:53058600-53060600	Weak transcription	Left Ventricle	heart
46	chr3:53058600-53060800	Weak transcription	Psoas Muscle	Psoas
47	chr3:53058600-53061400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr3:53058600-53062200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr3:53058600-53064800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr3:53058800-53060400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links