Variant report

Variant	nsv947858
Chromosome Location	chr10:38516576-38632253
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	BCL11A	chr10:38631238-38631413	GM12878	blood:	n/a	n/a
2	BCL11A	chr10:38631212-38631449	GM12878	blood:	n/a	n/a
3	CEBPB	chr10:38605903-38606082	A549	lung:	n/a	chr10:38605986-38605999 chr10:38605986-38605997
4	CTCF	chr10:38569407-38569447	GM12891	blood:	n/a	n/a
5	CTCF	chr10:38541560-38541710	GM12872	blood:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
6	CTCF	chr10:38541600-38541750	SK-N-SH_RA	brain:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
7	CTCF	chr10:38561587-38561613	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr10:38541619-38541728	GM13977	blood:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
9	CTCF	chr10:38629977-38629999	ProgFib	skin:	n/a	n/a
10	CTCF	chr10:38569320-38569470	HEK293	kidney:	n/a	n/a
11	CTCF	chr10:38530582-38530670	LNCaP	prostate:	n/a	n/a
12	CTCF	chr10:38526998-38527061	ProgFib	skin:	n/a	n/a
13	CTCF	chr10:38541581-38541758	LNCaP	prostate:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
14	CTCF	chr10:38578553-38578574	HepG2	liver:	n/a	n/a
15	CTCF	chr10:38569383-38569546	MCF-7	breast:	n/a	n/a
16	CTCF	chr10:38541567-38541775	HepG2	liver:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
17	CTCF	chr10:38541600-38541750	Hela-S3	cervix:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
18	CTCF	chr10:38541640-38541790	NB4	blood:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
19	CTCF	chr10:38541586-38541801	T-47D	breast:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
20	CTCF	chr10:38569326-38569520	GM12878	blood:	n/a	n/a
21	CTCF	chr10:38589969-38590012	LNCaP	prostate:	n/a	n/a
22	CTCF	chr10:38541600-38541750	HEK293	kidney:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
23	CTCF	chr10:38620045-38620092	Fibrobl	skin:	n/a	n/a
24	CTCF	chr10:38629987-38630019	MCF-7	breast:	n/a	n/a
25	CTCF	chr10:38569427-38569455	GM12892	blood:	n/a	n/a
26	CTCF	chr10:38622786-38622805	MCF-7	breast:	n/a	n/a
27	CTCF	chr10:38541600-38541750	HL-60	blood:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
28	CTCF	chr10:38541600-38541750	Caco-2	colon:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
29	CTCF	chr10:38541600-38541750	GM12872	blood:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
30	CTCF	chr10:38541590-38541723	SK-N-SH_RA	brain:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
31	CTCF	chr10:38569375-38569503	HepG2	liver:	n/a	n/a
32	CTCF	chr10:38573640-38573790	GM12872	blood:	n/a	n/a
33	CTCF	chr10:38541600-38541750	NHEK	skin:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
34	CTCF	chr10:38541640-38541790	RPTEC	kidney:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
35	CTCF	chr10:38541620-38541770	HCFaa	heart:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
36	CTCF	chr10:38541600-38541750	GM12874	blood:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
37	CTCF	chr10:38610860-38610874	LNCaP	prostate:	n/a	n/a
38	CTCF	chr10:38541655-38541725	ProgFib	skin:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
39	CTCF	chr10:38541560-38541710	GM06990	blood:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
40	CTCF	chr10:38565477-38565509	LNCaP	prostate:	n/a	n/a
41	CTCF	chr10:38541596-38541793	Gliobla	brain:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
42	CTCF	chr10:38541600-38541750	MCF-7	breast:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
43	CTCF	chr10:38541620-38541770	GM12864	blood:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
44	CTCF	chr10:38569360-38569510	HepG2	liver:	n/a	n/a
45	CTCF	chr10:38541600-38541750	HepG2	liver:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
46	CTCF	chr10:38530939-38530995	LNCaP	prostate:	n/a	n/a
47	CTCF	chr10:38569401-38569427	A549	lung:	n/a	n/a
48	CTCF	chr10:38541546-38541801	HepG2	liver:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
49	CTCF	chr10:38541640-38541790	A549	lung:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685
50	CTCF	chr10:38541619-38541738	SK-N-SH_RA	brain:	n/a	chr10:38541668-38541686 chr10:38541670-38541691 chr10:38541671-38541684 chr10:38541669-38541685

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:38581321..38584038-chr20:23412027..23414957,2	K562	blood:

Variant related genes	Relation type
ENSG00000226113	TF binding region
ENSG00000234941	TF binding region

Extended variants
information (count: 185 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141911943	chr10:38534102-38534103	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs148367854	chr10:38534148-38534149	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs189004615	chr10:38534171-38534172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs2983331	chr10:38534173-38534174	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs181424674	chr10:38534188-38534189	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs1987631	chr10:38534621-38534622	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs138244473	chr10:38534624-38534625	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs574069385	chr10:38540611-38540612	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs2260742	chr10:38540618-38540619	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs529224916	chr10:38540629-38540630	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs536953208	chr10:38540644-38540645	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs184952509	chr10:38540688-38540689	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs376387629	chr10:38540695-38540696	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs202071391	chr10:38540699-38540700	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs138240242	chr10:38540721-38540722	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs559262669	chr10:38540737-38540738	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs572608927	chr10:38540739-38540740	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs541502023	chr10:38540751-38540752	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs77582188	chr10:38540772-38540773	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs561287514	chr10:38540784-38540785	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs530068535	chr10:38540806-38540807	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs71494838	chr10:38540846-38540847	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs116968530	chr10:38540869-38540870	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs117561191	chr10:38540912-38540913	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs552763449	chr10:38540913-38540914	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs376256681	chr10:38540953-38540954	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs201581468	chr10:38540967-38540968	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs1740753	chr10:38540976-38540977	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs199639857	chr10:38541528-38541529	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs528622372	chr10:38541537-38541538	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs373354760	chr10:38541620-38541621	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs151070321	chr10:38541655-38541656	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs530502004	chr10:38541690-38541691	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs550587201	chr10:38541712-38541713	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs146207723	chr10:38541785-38541786	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs138895428	chr10:38541791-38541792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs191531016	chr10:38541800-38541801	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs111318923	chr10:38542515-38542516	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs561967798	chr10:38542525-38542526	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs182344703	chr10:38542565-38542566	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs112745853	chr10:38542566-38542567	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs2800485	chr10:38542588-38542589	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs201451462	chr10:38542601-38542602	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs533806448	chr10:38542620-38542621	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs529708224	chr10:38565218-38565219	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs113703587	chr10:38565224-38565225	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs372320640	chr10:38565231-38565232	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs563250467	chr10:38565250-38565251	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs532316915	chr10:38565291-38565292	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs552485470	chr10:38565296-38565297	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Lung cancer	21569311	CNVD
Colorectal cancer	20459617	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Central neurocytomas	17123091	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38540600-38541000	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr10:38565200-38565800	Active TSS	Fetal Heart	heart
3	chr10:38568600-38569400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr10:38569000-38569400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr10:38569200-38569600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:38622800-38623200	Enhancers	HepG2	liver

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