Variant report

Variant	esv3405708
Chromosome Location	chr7:26222814-26223276
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr7:26223243-26223651	K562	blood:	n/a	n/a
2	BCL3	chr7:26221842-26225785	A549	lung:	n/a	n/a
3	BCL3	chr7:26217644-26229718	A549	lung:	n/a	chr7:26226946-26226953 chr7:26220505-26220512 chr7:26220601-26220614
4	BCL3	chr7:26222302-26224022	GM12878	blood:	n/a	n/a
5	BCLAF1	chr7:26223128-26224401	GM12878	blood:	n/a	n/a
6	CCNT2	chr7:26222480-26224193	K562	blood:	n/a	n/a
7	CEBPB	chr7:26223054-26223704	A549	lung:	n/a	chr7:26223540-26223552
8	CEBPB	chr7:26222452-26222862	ECC-1	luminal epithelium:	n/a	chr7:26222716-26222727
9	CEBPB	chr7:26222593-26223039	HepG2	liver:	n/a	chr7:26222716-26222727 chr7:26222983-26222994
10	CEBPB	chr7:26222507-26223002	MCF-7	breast:	n/a	chr7:26222716-26222727 chr7:26222983-26222994
11	CEBPB	chr7:26222694-26223151	Hela-S3	cervix:	n/a	chr7:26222716-26222727 chr7:26222983-26222994
12	ELF1	chr7:26222592-26222961	A549	lung:	n/a	n/a
13	ELF1	chr7:26223090-26223429	A549	lung:	n/a	n/a
14	EP300	chr7:26221898-26222830	ECC-1	luminal epithelium:	n/a	n/a
15	EP300	chr7:26223250-26223635	K562	blood:	n/a	chr7:26223487-26223494
16	FOSL2	chr7:26221809-26225787	HepG2	liver:	n/a	n/a
17	FOSL2	chr7:26223141-26224117	MCF-7	breast:	n/a	n/a
18	FOSL2	chr7:26222285-26222979	MCF-7	breast:	n/a	n/a
19	GATA3	chr7:26221981-26222980	MCF-7	breast:	n/a	n/a
20	GATA3	chr7:26223113-26224071	A549	lung:	n/a	chr7:26223913-26223920 chr7:26223251-26223261
21	GATA3	chr7:26222117-26222996	A549	lung:	n/a	n/a
22	JUND	chr7:26222105-26224146	T-47D	breast:	n/a	n/a
23	JUND	chr7:26221733-26224400	SK-N-SH	brain:	n/a	n/a
24	JUND	chr7:26221736-26224256	SK-N-SH	brain:	n/a	n/a
25	JUND	chr7:26223190-26224166	T-47D	breast:	n/a	n/a
26	JUND	chr7:26221856-26223366	A549	lung:	n/a	n/a
27	JUND	chr7:26223036-26224102	HCT-116	colon:	n/a	n/a
28	JUND	chr7:26221895-26225000	A549	lung:	n/a	n/a
29	MAFF	chr7:26223269-26223830	K562	blood:	n/a	n/a
30	MBD4	chr7:26222928-26225575	HepG2	liver:	n/a	n/a
31	MBD4	chr7:26221824-26222887	HepG2	liver:	n/a	n/a
32	MBD4	chr7:26222277-26224050	HepG2	liver:	n/a	n/a
33	MTA3	chr7:26223174-26223797	GM12878	blood:	n/a	n/a
34	MTA3	chr7:26222930-26229749	GM12878	blood:	n/a	n/a
35	NFATC1	chr7:26222933-26229616	GM12878	blood:	n/a	n/a
36	NFATC1	chr7:26221774-26229744	GM12878	blood:	n/a	n/a
37	NFIC	chr7:26221637-26222861	SK-N-SH	brain:	n/a	n/a
38	PBX3	chr7:26221872-26222986	SK-N-SH	brain:	n/a	n/a
39	PBX3	chr7:26221825-26222997	SK-N-SH	brain:	n/a	n/a
40	PML	chr7:26222389-26222965	MCF-7	breast:	n/a	n/a
41	PML	chr7:26223119-26224048	MCF-7	breast:	n/a	n/a
42	POLR2A	chr7:26222876-26222951	A549	lung:	n/a	n/a
43	POLR2A	chr7:26221824-26223357	ProgFib	skin:	n/a	n/a
44	POLR2A	chr7:26222820-26223538	HCT-116	colon:	n/a	n/a
45	POLR2A	chr7:26221686-26229023	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr7:26217201-26229557	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr7:26220388-26231360	U87	brain:	n/a	n/a
48	POLR2A	chr7:26222042-26224411	HL-60	blood:	n/a	n/a
49	POLR2A	chr7:26222431-26224348	K562	blood:	n/a	n/a
50	POLR2A	chr7:26217018-26234482	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:26221250..26223290-chr7:26281932..26283761,3	MCF-7	breast:
2	chr7:26209588..26214635-chr7:26216506..26225474,18	K562	blood:
3	chr7:26187762..26202698-chr7:26218693..26233402,42	K562	blood:
4	chr7:26121331..26123679-chr7:26220972..26223224,2	MCF-7	breast:
5	chr7:26191421..26193047-chr7:26221749..26224345,2	MCF-7	breast:
6	chr7:26129567..26132077-chr7:26220760..26223665,4	MCF-7	breast:
7	chr7:26187891..26202612-chr7:26221953..26234536,42	K562	blood:
8	chr7:26190764..26192860-chr7:26222610..26225578,2	MCF-7	breast:

Variant related genes	Relation type
NFE2L3	TF binding region
ENSG00000273237	chromatin interactions
ENSG00000050344	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563824231	chr7:26222839-26222840	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs547794338	chr7:26222868-26222869	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs567714328	chr7:26222872-26222873	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs536788573	chr7:26222906-26222907	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs189469750	chr7:26222925-26222926	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs556619201	chr7:26222934-26222935	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs576601624	chr7:26222956-26222957	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs538883061	chr7:26222965-26222966	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs386711470	chr7:26222973-26222974	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs139044215	chr7:26222975-26222976	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs181853813	chr7:26222978-26222979	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs142477885	chr7:26222983-26222984	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs574877624	chr7:26222988-26222989	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs550006204	chr7:26222989-26222990	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs112244242	chr7:26222999-26223000	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs148779228	chr7:26223001-26223002	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs142391260	chr7:26223004-26223005	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs150916670	chr7:26223011-26223012	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs559460975	chr7:26223032-26223033	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs528414448	chr7:26223035-26223036	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs569316944	chr7:26223046-26223047	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs554568762	chr7:26223054-26223055	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs372669664	chr7:26223083-26223084	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs185264158	chr7:26223121-26223122	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs73093889	chr7:26223149-26223150	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs117640828	chr7:26223160-26223161	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs113852178	chr7:26223168-26223169	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs539478008	chr7:26223183-26223184	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs558886733	chr7:26223217-26223218	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs117130964	chr7:26223232-26223233	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs117331843	chr7:26223233-26223234	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs575668750	chr7:26223253-26223254	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs552339542	chr7:26223254-26223255	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs370531562	chr7:26223257-26223258	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26199400-26230200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:26200000-26227200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:26206600-26227600	Weak transcription	Esophagus	oesophagus
4	chr7:26206800-26226000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:26207000-26226800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:26207000-26227400	Weak transcription	Gastric	stomach
7	chr7:26207000-26227600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:26207000-26228000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr7:26207200-26224600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:26207200-26227000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:26207200-26228200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:26207400-26224800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:26207400-26227800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:26207600-26227000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:26207600-26227400	Weak transcription	Primary T cells from cord blood	blood
16	chr7:26207800-26223200	Weak transcription	Fetal Thymus	thymus
17	chr7:26208000-26226000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:26208000-26227400	Weak transcription	Brain Substantia Nigra	brain
19	chr7:26208800-26227600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:26209200-26226000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:26210200-26227000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:26210200-26227000	Weak transcription	Small Intestine	intestine
23	chr7:26210800-26223800	Weak transcription	GM12878-XiMat	blood
24	chr7:26210800-26224800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr7:26210800-26226000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:26211000-26226000	Weak transcription	Thymus	Thymus
27	chr7:26211600-26224600	Weak transcription	Psoas Muscle	Psoas
28	chr7:26212200-26227400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr7:26213800-26223800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:26213800-26228400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr7:26214400-26228200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:26215600-26228800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr7:26217200-26228000	Weak transcription	Fetal Brain Male	brain
34	chr7:26217400-26234800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:26218000-26223600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:26218200-26236000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:26218400-26224800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr7:26218400-26227000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:26218600-26224400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:26218600-26227000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:26218600-26228600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:26218800-26231800	Weak transcription	Fetal Intestine Small	intestine
43	chr7:26219000-26233800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:26219600-26228200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr7:26219600-26228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:26219800-26224600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:26219800-26226200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr7:26219800-26227400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:26220000-26224400	Weak transcription	Brain Anterior Caudate	brain
50	chr7:26220000-26224400	Weak transcription	Brain Hippocampus Middle	brain

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