Variant report

Variant	nsv526652
Chromosome Location	chr7:11214240-11216782
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	E2F4	chr7:11216210-11216391	MCF10A-Er-Src	breast:	n/a	n/a
3	EBF1	chr7:11215348-11215367	GM12878	blood:	n/a	n/a
4	EP300	chr7:11216268-11217680	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr7:11216478-11217174	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr7:11216585-11217121	SH-SY5Y	brain:	n/a	n/a
7	POLR2A	chr7:11215648-11215970	H1-neurons	neurons:	n/a	n/a
8	TCF7L2	chr7:11215360-11216000	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
ENSG00000230333	TF binding region

Extended variants
information (count: 99 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6953287	chr7:11214240-11214241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6973219	chr7:11214299-11214300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs558726200	chr7:11214302-11214303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28416600	chr7:11214374-11214375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544284456	chr7:11214398-11214399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199870475	chr7:11214447-11214448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199910227	chr7:11214452-11214453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574629163	chr7:11214458-11214459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10241276	chr7:11214532-11214533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192620633	chr7:11214576-11214577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184812638	chr7:11214579-11214580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532379549	chr7:11214585-11214586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551953370	chr7:11214615-11214616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80214910	chr7:11214636-11214637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560397740	chr7:11214657-11214658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548239315	chr7:11214719-11214720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568461768	chr7:11214741-11214742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374251520	chr7:11214797-11214798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577261486	chr7:11214809-11214810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139323267	chr7:11214864-11214865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571047372	chr7:11214871-11214872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189717888	chr7:11214933-11214934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556805796	chr7:11214939-11214940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527452970	chr7:11214968-11214969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191233301	chr7:11215018-11215019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552113317	chr7:11215099-11215100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183775546	chr7:11215100-11215101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113872277	chr7:11215145-11215146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144270044	chr7:11215157-11215158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539086161	chr7:11215193-11215194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189137487	chr7:11215195-11215196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34349810	chr7:11215199-11215200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560446892	chr7:11215220-11215221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553001948	chr7:11215230-11215231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146560852	chr7:11215231-11215232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545649794	chr7:11215267-11215268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562355597	chr7:11215276-11215277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6968332	chr7:11215293-11215294	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs562934739	chr7:11215351-11215352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371405593	chr7:11215383-11215384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376025244	chr7:11215408-11215409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531861959	chr7:11215411-11215412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548303215	chr7:11215437-11215438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535567726	chr7:11215445-11215446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562024361	chr7:11215474-11215475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141208362	chr7:11215512-11215513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76120048	chr7:11215516-11215517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56059158	chr7:11215527-11215528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181900093	chr7:11215528-11215529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550468081	chr7:11215538-11215539	Enhancers 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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11170600-11217400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:11204400-11217400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:11207000-11226000	Weak transcription	Gastric	stomach
4	chr7:11211600-11215400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:11215000-11215800	Enhancers	Fetal Intestine Small	intestine
6	chr7:11215400-11216000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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