Variant report

Variant	nsv606232
Chromosome Location	chr7:12641202-12653420
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	ARID3A	chr7:12652269-12652461	K562	blood:	n/a	n/a
2	BATF	chr7:12640956-12641205	GM12878	blood:	n/a	n/a
3	CBX3	chr7:12642012-12642335	K562	blood:	n/a	n/a
4	CBX3	chr7:12641946-12642277	K562	blood:	n/a	n/a
5	CEBPB	chr7:12642095-12642155	K562	blood:	n/a	n/a
6	CEBPD	chr7:12652348-12652747	K562	blood:	n/a	n/a
7	CTCF	chr7:12646860-12647010	AG10803	skin:	n/a	n/a
8	CTCF	chr7:12646840-12646990	HPF	lung:	n/a	n/a
9	ELF1	chr7:12646834-12647065	K562	blood:	n/a	chr7:12646948-12646961
10	EP300	chr7:12652303-12652548	K562	blood:	n/a	n/a
11	EP300	chr7:12646779-12647061	SK-N-SH_RA	brain:	n/a	chr7:12647041-12647055
12	EP300	chr7:12642195-12642217	K562	blood:	n/a	n/a
13	FOXP2	chr7:12646834-12647075	SK-N-MC	brain:	n/a	n/a
14	FOXP2	chr7:12646794-12647182	SK-N-MC	brain:	n/a	n/a
15	GATA2	chr7:12652245-12652576	K562	blood:	n/a	chr7:12652408-12652429 chr7:12652457-12652473 chr7:12652413-12652423 chr7:12652415-12652422 chr7:12652413-12652422 chr7:12652415-12652422 chr7:12652415-12652422 chr7:12652451-12652468 chr7:12652410-12652426 chr7:12652415-12652425
16	GATA3	chr7:12646950-12647026	SH-SY5Y	brain:	n/a	n/a
17	GATA3	chr7:12648938-12648944	SH-SY5Y	brain:	n/a	n/a
18	JUN	chr7:12642118-12642221	K562	blood:	n/a	n/a
19	KAP1	chr7:12641778-12642345	K562	blood:	n/a	n/a
20	MEF2A	chr7:12640941-12641239	GM12878	blood:	n/a	n/a
21	NFIC	chr7:12640962-12641309	GM12878	blood:	n/a	chr7:12640990-12641018
22	POLR2A	chr7:12646209-12646327	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr7:12646688-12647126	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr7:12646807-12647028	PFSK-1	brain:	n/a	n/a
25	PRDM1	chr7:12649459-12649485	Hela-S3	cervix:	n/a	n/a
26	RCOR1	chr7:12652206-12652527	K562	blood:	n/a	n/a
27	REST	chr7:12646774-12647055	PFSK-1	brain:	n/a	n/a
28	RUNX3	chr7:12640932-12641323	GM12878	blood:	n/a	n/a
29	RUNX3	chr7:12640884-12641228	GM12878	blood:	n/a	n/a
30	SETDB1	chr7:12641998-12642352	K562	blood:	n/a	n/a
31	SETDB1	chr7:12642052-12642303	U2OS	brain:	n/a	n/a
32	SIN3AK20	chr7:12646841-12647032	PFSK-1	brain:	n/a	n/a
33	STAT3	chr7:12645758-12645959	MCF10A-Er-Src	breast:	n/a	chr7:12645914-12645928 chr7:12645917-12645926 chr7:12645916-12645925
34	TAL1	chr7:12652269-12652629	K562	blood:	n/a	chr7:12652451-12652469
35	TEAD4	chr7:12652217-12652620	K562	blood:	n/a	n/a
36	TEAD4	chr7:12652227-12652687	K562	blood:	n/a	n/a
37	TRIM28	chr7:12641906-12642370	K562	blood:	n/a	n/a
38	TRIM28	chr7:12642079-12642240	K562	blood:	n/a	n/a
39	YY1	chr7:12646628-12647004	SK-N-SH_RA	brain:	n/a	n/a
40	ZNF143	chr7:12642130-12642323	H1-hESC	embryonic stem cell:	n/a	n/a
41	ZNF143	chr7:12642129-12642253	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12639327..12643094-chr7:12646520..12649667,3	K562	blood:
2	chr7:12639327..12643094-chr7:12646520..12649667,3	K562	blood:

Variant related genes	Relation type
SCIN	TF binding region

Extended variants
information (count: 547 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10241553	chr7:12641202-12641203	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529856149	chr7:12641238-12641239	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs148112092	chr7:12641262-12641263	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs531393125	chr7:12641282-12641283	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs556810647	chr7:12641283-12641284	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs68150541	chr7:12641291-12641292	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs566424919	chr7:12641322-12641323	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs191111149	chr7:12641344-12641345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185600186	chr7:12641360-12641361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571575569	chr7:12641364-12641365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112227007	chr7:12641385-12641386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369381595	chr7:12641428-12641429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140964094	chr7:12641455-12641456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs849774	chr7:12641456-12641457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536261428	chr7:12641576-12641577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377355456	chr7:12641614-12641615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190807465	chr7:12641624-12641625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182101758	chr7:12641640-12641641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375127599	chr7:12641659-12641660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150197665	chr7:12641677-12641678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369818990	chr7:12641678-12641679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138695906	chr7:12641681-12641682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149332123	chr7:12641682-12641683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12534271	chr7:12641688-12641689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560807874	chr7:12641689-12641690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555859756	chr7:12641696-12641697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529783794	chr7:12641727-12641728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10274664	chr7:12641808-12641809	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10274665	chr7:12641816-12641817	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs532247579	chr7:12641835-12641836	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs552059617	chr7:12641880-12641881	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs571579888	chr7:12641898-12641899	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs377766114	chr7:12641929-12641930	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs369850675	chr7:12641944-12641945	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs537041926	chr7:12641948-12641949	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs551001338	chr7:12641952-12641953	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs7806833	chr7:12641955-12641956	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187093413	chr7:12641959-12641960	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs567089079	chr7:12642008-12642009	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs565390802	chr7:12642020-12642021	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs7787788	chr7:12642022-12642023	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs547007052	chr7:12642026-12642027	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs189014310	chr7:12642062-12642063	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs148640868	chr7:12642076-12642077	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs181330341	chr7:12642085-12642086	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs185593036	chr7:12642172-12642173	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs539357865	chr7:12642173-12642174	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs539963026	chr7:12642188-12642189	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs559869841	chr7:12642197-12642198	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs532185021	chr7:12642198-12642199	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
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
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
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12625000-12645800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:12625000-12652000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:12625400-12667600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:12637000-12644000	Weak transcription	K562	blood
5	chr7:12639800-12641400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:12639800-12649600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:12640200-12641400	Enhancers	GM12878-XiMat	blood
8	chr7:12641400-12644000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:12642400-12649200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:12642800-12649400	Weak transcription	Adipose Nuclei	Adipose
11	chr7:12644000-12644400	ZNF genes & repeats	K562	blood
12	chr7:12644000-12647000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:12644400-12649400	Weak transcription	K562	blood
14	chr7:12647000-12648600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:12648600-12649800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:12649000-12649200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:12649200-12649400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:12649200-12650400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:12649400-12649800	ZNF genes & repeats	K562	blood
20	chr7:12649400-12650800	Enhancers	Adipose Nuclei	Adipose
21	chr7:12649600-12650000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:12649800-12651800	Weak transcription	K562	blood
23	chr7:12649800-12652000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:12650000-12660200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:12650400-12650600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:12650600-12650800	Enhancers	A549	lung
27	chr7:12650600-12651000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:12651000-12651800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:12651600-12652600	Enhancers	Stomach Mucosa	stomach
30	chr7:12651800-12652800	Enhancers	K562	blood
31	chr7:12652000-12652800	Enhancers	Duodenum Mucosa	Duodenum
32	chr7:12652000-12654600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:12652600-12657200	Weak transcription	Stomach Mucosa	stomach
34	chr7:12652800-12659400	Weak transcription	K562	blood

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