Variant report

Variant	nsv971548
Chromosome Location	chr7:11212186-11217961
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	BHLHE40	chr7:11215693-11215816	K562	blood:	n/a	n/a
2	CCNT2	chr7:11217186-11217420	K562	blood:	n/a	n/a
3	E2F4	chr7:11216210-11216391	MCF10A-Er-Src	breast:	n/a	n/a
4	EBF1	chr7:11215348-11215367	GM12878	blood:	n/a	n/a
5	EP300	chr7:11216268-11217680	SK-N-SH	brain:	n/a	n/a
6	GATA2	chr7:11216784-11217155	SH-SY5Y	brain:	n/a	n/a
7	GATA3	chr7:11216478-11217174	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr7:11216585-11217121	SH-SY5Y	brain:	n/a	n/a
9	MAFK	chr7:11216852-11217028	HepG2	liver:	n/a	chr7:11216881-11216898
10	POLR2A	chr7:11216811-11217209	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr7:11215648-11215970	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr7:11212740-11213357	GM12878	blood:	n/a	n/a
13	TCF7L2	chr7:11215360-11216000	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:11205391..11208108-chr7:11211440..11214054,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230333	TF binding region

Extended variants
information (count: 217 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:217 , 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	rs137964813	chr7:11212307-11212308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538567526	chr7:11212324-11212325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368391703	chr7:11212494-11212495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183322060	chr7:11212507-11212508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142959717	chr7:11212625-11212626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565486994	chr7:11212639-11212640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143509260	chr7:11212645-11212646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147148154	chr7:11212650-11212651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370754085	chr7:11212692-11212693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554410721	chr7:11212710-11212711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561163605	chr7:11212711-11212712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140296242	chr7:11212812-11212813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574698680	chr7:11212819-11212820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548834976	chr7:11212827-11212828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559387332	chr7:11212832-11212833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528118743	chr7:11212848-11212849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556993746	chr7:11212888-11212889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2353790	chr7:11212899-11212900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571212177	chr7:11212907-11212908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537350563	chr7:11212947-11212948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185839718	chr7:11212998-11212999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73286548	chr7:11213004-11213005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs536425098	chr7:11213015-11213016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189759446	chr7:11213019-11213020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552798741	chr7:11213050-11213051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573285120	chr7:11213052-11213053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538711993	chr7:11213060-11213061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558921106	chr7:11213079-11213080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182452993	chr7:11213189-11213190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145077351	chr7:11213215-11213216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560568575	chr7:11213217-11213218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532489270	chr7:11213220-11213221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377447967	chr7:11213244-11213245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561227452	chr7:11213311-11213312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574729148	chr7:11213418-11213419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55804401	chr7:11213421-11213422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34411096	chr7:11213448-11213449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117021510	chr7:11213485-11213486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115354637	chr7:11213491-11213492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528190050	chr7:11213492-11213493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551147154	chr7:11213514-11213515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564887555	chr7:11213525-11213526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530488189	chr7:11213530-11213531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550921304	chr7:11213539-11213540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371916898	chr7:11213548-11213549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75734743	chr7:11213607-11213608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546777078	chr7:11213694-11213695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541675493	chr7:11213706-11213707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112157739	chr7:11213721-11213722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373674535	chr7:11213730-11213731	Weak transcription	n/a	n/a	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
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
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11107600-11212200	Weak transcription	Fetal Kidney	kidney
2	chr7:11170600-11217400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:11175400-11213200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:11189200-11214000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:11190000-11213200	Weak transcription	Dnd41	blood
6	chr7:11204200-11213200	Weak transcription	Primary B cells from cord blood	blood
7	chr7:11204400-11217400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:11207000-11226000	Weak transcription	Gastric	stomach
9	chr7:11211000-11212200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:11211600-11215400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:11212600-11212800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:11215000-11215800	Enhancers	Fetal Intestine Small	intestine
13	chr7:11215400-11216000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:11217200-11217800	Enhancers	Osteobl	bone
15	chr7:11217200-11218000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:11217400-11217600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:11217400-11218000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:11217600-11218000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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