Variant report

Variant	esv3349435
Chromosome Location	chr10:6059346-6062944
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	chr10:6061363-6061706	K562	blood:	n/a	n/a
2	BRCA1	chr10:6060651-6061479	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr10:6061102-6061178	K562	blood:	n/a	n/a
4	CTCF	chr10:6061020-6061170	GM12873	blood:	n/a	n/a
5	CTCF	chr10:6062020-6062170	GM12871	blood:	n/a	n/a
6	CTCF	chr10:6062040-6062190	GM12868	blood:	n/a	n/a
7	E2F6	chr10:6061457-6061628	K562	blood:	n/a	n/a
8	EP300	chr10:6061257-6061504	K562	blood:	n/a	n/a
9	GTF2F1	chr10:6061195-6061443	K562	blood:	n/a	n/a
10	HCFC1	chr10:6061273-6061364	K562	blood:	n/a	n/a
11	HMGN3	chr10:6061871-6061872	K562	blood:	n/a	n/a
12	KAP1	chr10:6061229-6061895	K562	blood:	n/a	chr10:6061536-6061544
13	MAFK	chr10:6062937-6062994	HepG2	liver:	n/a	n/a
14	MAFK	chr10:6062937-6062944	K562	blood:	n/a	n/a
15	MAX	chr10:6061427-6061647	K562	blood:	n/a	chr10:6061573-6061584 chr10:6061574-6061583 chr10:6061565-6061581 chr10:6061573-6061583
16	MAX	chr10:6061284-6061772	K562	blood:	n/a	chr10:6061573-6061584 chr10:6061574-6061583 chr10:6061565-6061581 chr10:6061573-6061583
17	MXI1	chr10:6061379-6061588	K562	blood:	n/a	chr10:6061573-6061582
18	MYC	chr10:6061363-6061635	K562	blood:	n/a	chr10:6061573-6061584 chr10:6061574-6061583 chr10:6061565-6061581 chr10:6061573-6061583
19	MYC	chr10:6061575-6061595	K562	blood:	n/a	n/a
20	MYC	chr10:6061526-6061533	K562	blood:	n/a	n/a
21	MYC	chr10:6061381-6061656	K562	blood:	n/a	chr10:6061573-6061584 chr10:6061574-6061583 chr10:6061565-6061581 chr10:6061573-6061583
22	POLR2A	chr10:6062034-6062118	GM12878	blood:	n/a	n/a
23	RCOR1	chr10:6061379-6061565	K562	blood:	n/a	n/a
24	RCOR1	chr10:6061426-6061556	K562	blood:	n/a	n/a
25	TAL1	chr10:6061259-6061630	K562	blood:	n/a	chr10:6061463-6061481
26	USF1	chr10:6061339-6061685	K562	blood:	n/a	n/a
27	YY1	chr10:6061272-6061428	K562	blood:	n/a	n/a
28	ZNF274	chr10:6061243-6062067	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:6051578..6054248-chr10:6061893..6064175,2	K562	blood:
2	chr10:6056224..6059650-chr10:6062911..6065647,3	MCF-7	breast:
3	chr10:6055685..6057860-chr10:6061812..6063688,2	MCF-7	breast:
4	chr10:6062258..6063971-chr10:6130127..6132844,2	MCF-7	breast:
5	chr10:6060947..6063701-chr10:6181512..6183483,2	K562	blood:
6	chr10:6059382..6061395-chr10:6068804..6071571,2	MCF-7	breast:
7	chr10:6059419..6064322-chr10:6065224..6067534,4	K562	blood:

Variant related genes	Relation type
ENSG00000229664	TF binding region
ENSG00000251922	TF binding region
ENSG00000134453	chromatin interactions
ENSG00000251922	chromatin interactions

Extended variants
information (count: 167 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:167 , 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	rs572413526	chr10:6059361-6059362	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543140865	chr10:6059368-6059369	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560925525	chr10:6059397-6059398	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377221065	chr10:6059435-6059436	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544089510	chr10:6059458-6059459	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12722590	chr10:6059475-6059476	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555983026	chr10:6059485-6059486	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533257854	chr10:6059506-6059507	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7918154	chr10:6059530-6059531	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575884098	chr10:6059535-6059536	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs80209065	chr10:6059554-6059555	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71390109	chr10:6059556-6059557	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76709428	chr10:6059557-6059558	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189146481	chr10:6059576-6059577	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560331079	chr10:6059668-6059669	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527376525	chr10:6059691-6059692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs3793713	chr10:6059704-6059705	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567263760	chr10:6059836-6059837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371623065	chr10:6059838-6059839	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544819709	chr10:6059840-6059841	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537801321	chr10:6059856-6059857	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7899538	chr10:6059898-6059899	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs571942858	chr10:6059943-6059944	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112185090	chr10:6059944-6059945	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554056243	chr10:6059946-6059947	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572628967	chr10:6059965-6059966	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12722699	chr10:6060015-6060016	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536344946	chr10:6060022-6060023	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140088691	chr10:6060023-6060024	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554680869	chr10:6060033-6060034	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143550766	chr10:6060053-6060054	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113428577	chr10:6060054-6060055	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12722698	chr10:6060057-6060058	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs74162100	chr10:6060081-6060082	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74162099	chr10:6060085-6060086	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201955877	chr10:6060090-6060091	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373749136	chr10:6060118-6060119	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs3215754	chr10:6060172-6060173	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs397840138	chr10:6060175-6060176	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570156062	chr10:6060197-6060198	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111378667	chr10:6060199-6060200	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74162098	chr10:6060211-6060212	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56032961	chr10:6060234-6060235	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577846037	chr10:6060245-6060246	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79040149	chr10:6060265-6060266	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12722697	chr10:6060290-6060291	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs527525530	chr10:6060315-6060316	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202060940	chr10:6060372-6060373	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369470976	chr10:6060373-6060374	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373369015	chr10:6060394-6060395	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
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
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6056200-6061000	Weak transcription	K562	blood
2	chr10:6056600-6059800	Weak transcription	Stomach Mucosa	stomach
3	chr10:6056800-6060400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr10:6057000-6066000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr10:6057200-6060600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr10:6057400-6059800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr10:6057400-6068600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr10:6057600-6059400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr10:6057600-6060400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr10:6057600-6062800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:6057800-6064400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr10:6057800-6069600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr10:6057800-6069800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr10:6058000-6059400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:6058000-6068600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr10:6058400-6060000	Weak transcription	Fetal Thymus	thymus
17	chr10:6058400-6062800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr10:6058600-6059400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:6058600-6063200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr10:6059000-6059400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr10:6059000-6059400	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr10:6059000-6060600	Enhancers	Duodenum Mucosa	Duodenum
23	chr10:6059000-6060800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr10:6059200-6059400	Enhancers	Fetal Muscle Trunk	muscle
25	chr10:6059200-6059400	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr10:6059200-6060200	Enhancers	Fetal Intestine Small	intestine
27	chr10:6059200-6060400	Enhancers	Colonic Mucosa	Colon
28	chr10:6059200-6060400	Enhancers	Lung	lung
29	chr10:6059200-6060400	Enhancers	Small Intestine	intestine
30	chr10:6059400-6059800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr10:6059400-6059800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr10:6059400-6061000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr10:6059400-6063000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:6059400-6068800	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr10:6059800-6060200	Strong transcription	Pancreatic Islets	Pancreatic Islet
36	chr10:6059800-6060600	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr10:6059800-6060800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr10:6059800-6060800	Enhancers	Placenta	Placenta
39	chr10:6059800-6061000	Enhancers	Stomach Mucosa	stomach
40	chr10:6060000-6060200	Enhancers	Fetal Thymus	thymus
41	chr10:6060000-6060400	Enhancers	Stomach Smooth Muscle	stomach
42	chr10:6060000-6060600	Enhancers	Fetal Muscle Leg	muscle
43	chr10:6060000-6060800	Enhancers	Ovary	ovary
44	chr10:6060000-6061200	Enhancers	Spleen	Spleen
45	chr10:6060000-6065600	Weak transcription	Esophagus	oesophagus
46	chr10:6060200-6060600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr10:6060200-6060800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr10:6060200-6060800	Enhancers	Fetal Stomach	stomach
49	chr10:6060200-6060800	Enhancers	Right Atrium	heart
50	chr10:6060200-6061000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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