Variant report

Variant	esv1796855
Chromosome Location	chr7:8042555-8047169
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	CEBPB	chr7:8046874-8047126	HepG2	liver:	n/a	chr7:8046949-8046960 chr7:8046982-8046993
2	EP300	chr7:8044156-8044178	K562	blood:	n/a	n/a
3	ESR1	chr7:8042715-8042985	T-47D	breast:	n/a	n/a
4	FOXA2	chr7:8046507-8046701	HepG2	liver:	n/a	n/a
5	GATA2	chr7:8044543-8044832	SH-SY5Y	brain:	n/a	n/a
6	GATA3	chr7:8044345-8044820	MCF-7	breast:	n/a	n/a
7	GATA3	chr7:8044563-8044832	SH-SY5Y	brain:	n/a	n/a
8	POLR2A	chr7:8042031-8043634	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:8046931-8047218	MCF-7	breast:	n/a	n/a
10	POLR2A	chr7:8046177-8047568	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:8044986-8045351	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:8044323-8044747	GM12878	blood:	n/a	n/a
13	RCOR1	chr7:8047154-8047248	Hela-S3	cervix:	n/a	n/a
14	SRF	chr7:8047044-8047201	HepG2	liver:	n/a	chr7:8047082-8047093 chr7:8047081-8047094 chr7:8047079-8047093 chr7:8047078-8047096 chr7:8047078-8047092 chr7:8047076-8047093 chr7:8047082-8047096
15	USF2	chr7:8044757-8044759	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:8009215..8011619-chr7:8044493..8047371,2	MCF-7	breast:
2	chr7:8008115..8009822-chr7:8045668..8048452,4	MCF-7	breast:
3	chr7:8043881..8046196-chr7:8058398..8061346,2	MCF-7	breast:
4	chr7:8009265..8011101-chr7:8042338..8044850,2	MCF-7	breast:
5	chr7:8006704..8009086-chr7:8043010..8045321,2	MCF-7	breast:
6	chr7:8012721..8014587-chr7:8046373..8049068,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006465.3.1-1	chr7:8043538-8043877	NONHSAT119142

Variant related genes	Relation type
GLCCI1	TF binding region
ENSG00000106415	chromatin interactions
ENSG00000233108	chromatin interactions

Extended variants
information (count: 224 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs38012	chr7:8042555-8042556	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536526490	chr7:8042557-8042558	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs554602816	chr7:8042596-8042597	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs139504797	chr7:8042598-8042599	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs533785280	chr7:8042643-8042644	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs183030625	chr7:8042648-8042649	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs577731359	chr7:8042772-8042773	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs538625874	chr7:8042782-8042783	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs544466930	chr7:8042817-8042818	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs34944995	chr7:8042840-8042841	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs575582082	chr7:8042850-8042851	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs543295497	chr7:8042857-8042858	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs150047985	chr7:8042895-8042896	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs573425740	chr7:8042930-8042931	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs540841064	chr7:8042943-8042944	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs16872351	chr7:8042947-8042948	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs78695807	chr7:8042952-8042953	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs397701966	chr7:8042953-8042954	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs532268862	chr7:8042973-8042974	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs550432746	chr7:8042987-8042988	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs185089879	chr7:8043014-8043015	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs386709980	chr7:8043020-8043021	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs111253930	chr7:8043021-8043022	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs62433404	chr7:8043022-8043023	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs28670736	chr7:8043026-8043027	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs189936068	chr7:8043027-8043028	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs146604471	chr7:8043034-8043035	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs141329700	chr7:8043061-8043062	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs10264190	chr7:8043190-8043191	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs535366901	chr7:8043224-8043225	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs539105807	chr7:8043229-8043230	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs182573263	chr7:8043241-8043242	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs575589204	chr7:8043259-8043260	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs577127116	chr7:8043285-8043286	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs536251527	chr7:8043316-8043317	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs555263403	chr7:8043340-8043341	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs573598250	chr7:8043400-8043401	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs372996776	chr7:8043406-8043407	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs540803871	chr7:8043413-8043414	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs544638347	chr7:8043414-8043415	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs577400253	chr7:8043425-8043426	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs544287846	chr7:8043450-8043451	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs562732804	chr7:8043482-8043483	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs38013	chr7:8043504-8043505	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs202234751	chr7:8043507-8043508	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs116960194	chr7:8043538-8043539	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs371258605	chr7:8043539-8043540	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs148643567	chr7:8043565-8043566	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs547798426	chr7:8043574-8043575	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs267601577	chr7:8043586-8043587	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8015000-8045000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:8029200-8043600	Weak transcription	Small Intestine	intestine
3	chr7:8029800-8046400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:8029800-8049000	Weak transcription	Fetal Heart	heart
5	chr7:8033600-8043600	Weak transcription	Primary B cells from cord blood	blood
6	chr7:8035200-8045000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:8036000-8044200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:8036400-8043600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:8036400-8044400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:8036400-8044400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:8036400-8045000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:8036400-8046600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:8036400-8077400	Weak transcription	Right Ventricle	heart
14	chr7:8036600-8044200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr7:8036600-8044600	Weak transcription	Osteobl	bone
16	chr7:8036600-8045600	Weak transcription	Liver	Liver
17	chr7:8036600-8045600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:8036600-8045800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:8036600-8045800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:8036600-8053800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr7:8036600-8057200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:8036600-8064400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:8036600-8064400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:8036600-8074600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:8036800-8042800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:8036800-8043200	Weak transcription	Hela-S3	cervix
27	chr7:8036800-8043800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:8036800-8043800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:8036800-8044200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:8036800-8046400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:8037400-8043800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr7:8037400-8044200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:8038000-8066000	Weak transcription	Pancreas	Pancrea
34	chr7:8038200-8043600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:8038200-8045800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:8038400-8046400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:8038400-8066000	Weak transcription	Spleen	Spleen
38	chr7:8039200-8044400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:8039400-8044200	Weak transcription	Thymus	Thymus
40	chr7:8039400-8045200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:8039400-8046400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:8039400-8046400	Weak transcription	Left Ventricle	heart
43	chr7:8039400-8046400	Weak transcription	Ovary	ovary
44	chr7:8039600-8043000	Weak transcription	Fetal Thymus	thymus
45	chr7:8039600-8043200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr7:8039800-8042800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr7:8040000-8046400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:8040400-8043000	Weak transcription	Dnd41	blood
49	chr7:8040600-8044200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:8041000-8044200	Weak transcription	Rectal Mucosa Donor 29	rectum

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