Variant report

Variant	esv15081
Chromosome Location	chr6:74340320-74342249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:74339411..74341466-chr6:74345966..74347620,2	K562	blood:
2	chr6:74228508..74231368-chr6:74339913..74342882,2	K562	blood:
3	chr6:74341293..74343216-chr6:74345270..74346833,2	MCF-7	breast:
4	chr6:74321133..74323534-chr6:74341281..74343940,2	K562	blood:

Variant related genes	Relation type
ENSG00000156508	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58417654	chr6:74340346-74340347	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530270559	chr6:74340366-74340367	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546877969	chr6:74340386-74340387	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200853411	chr6:74340396-74340397	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs149740513	chr6:74340401-74340402	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs57315094	chr6:74340410-74340411	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs534182003	chr6:74340413-74340414	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148577235	chr6:74340441-74340442	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs58783392	chr6:74340443-74340444	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs1741899	chr6:74340491-74340492	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs557304019	chr6:74340492-74340493	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs72951364	chr6:74340527-74340528	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554644300	chr6:74340540-74340541	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572890506	chr6:74340557-74340558	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs539946465	chr6:74340568-74340569	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs151077385	chr6:74340585-74340586	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs1741900	chr6:74340586-74340587	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs369380123	chr6:74340599-74340600	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs1703464	chr6:74340629-74340630	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376135214	chr6:74340654-74340655	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs530313338	chr6:74340661-74340662	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542099785	chr6:74340723-74340724	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs683265	chr6:74340733-74340734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs683267	chr6:74340737-74340738	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs535202717	chr6:74340741-74340742	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs376467853	chr6:74340760-74340761	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs76573980	chr6:74340774-74340775	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs71555205	chr6:74340775-74340776	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs79169845	chr6:74340776-74340777	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs553627822	chr6:74340783-74340784	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531772605	chr6:74340785-74340786	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs79381775	chr6:74340792-74340793	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188094734	chr6:74340806-74340807	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371201179	chr6:74340813-74340814	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs191727278	chr6:74340825-74340826	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs182550476	chr6:74340886-74340887	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs374238171	chr6:74340940-74340941	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560625680	chr6:74340956-74340957	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373421022	chr6:74340991-74340992	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373440575	chr6:74340993-74340994	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs75023644	chr6:74341010-74341011	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs75382775	chr6:74341011-74341012	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs76200359	chr6:74341012-74341013	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12210126	chr6:74341039-74341040	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs9446956	chr6:74341041-74341042	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs543852253	chr6:74341136-74341137	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs113111812	chr6:74341193-74341194	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs685491	chr6:74341221-74341222	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs186876690	chr6:74341227-74341228	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs140939990	chr6:74341286-74341287	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74296400-74354800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:74296400-74354800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:74296400-74355000	Weak transcription	Fetal Brain Male	brain
4	chr6:74296600-74344000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:74297000-74361800	Weak transcription	GM12878-XiMat	blood
6	chr6:74303400-74355000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:74307200-74362400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:74307600-74356400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:74311200-74355000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:74314200-74362800	Weak transcription	Stomach Mucosa	stomach
11	chr6:74314400-74346400	Weak transcription	Psoas Muscle	Psoas
12	chr6:74315200-74348800	Weak transcription	HMEC	breast
13	chr6:74315400-74345200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:74315600-74362800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:74316200-74347000	Strong transcription	Fetal Intestine Small	intestine
16	chr6:74316400-74349200	Weak transcription	HUVEC	blood vessel
17	chr6:74316600-74355000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:74318400-74350000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:74318400-74355000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:74318800-74355200	Weak transcription	Colonic Mucosa	Colon
21	chr6:74319000-74341200	Weak transcription	NH-A	brain
22	chr6:74319600-74354800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr6:74319800-74354800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:74320800-74341200	Weak transcription	Brain Angular Gyrus	brain
25	chr6:74322800-74341200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:74324600-74362800	Weak transcription	Pancreas	Pancrea
27	chr6:74324800-74342200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:74324800-74361600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr6:74325000-74341200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:74325000-74341200	Weak transcription	Esophagus	oesophagus
31	chr6:74325000-74342200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:74325000-74342200	Weak transcription	Brain Germinal Matrix	brain
33	chr6:74325000-74344000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr6:74325000-74346000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr6:74325000-74348800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr6:74325000-74349400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr6:74325000-74354800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr6:74325000-74355200	Weak transcription	HSMM	muscle
39	chr6:74325200-74341200	Weak transcription	Dnd41	blood
40	chr6:74325200-74342200	Weak transcription	Fetal Thymus	thymus
41	chr6:74325200-74345800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr6:74325200-74355000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:74325400-74340800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr6:74325400-74340800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr6:74325400-74345800	Weak transcription	NHDF-Ad	bronchial
46	chr6:74325400-74362800	Weak transcription	Small Intestine	intestine
47	chr6:74328600-74350000	Weak transcription	Fetal Heart	heart
48	chr6:74330600-74342400	Weak transcription	Liver	Liver
49	chr6:74330800-74341000	Weak transcription	Brain Anterior Caudate	brain
50	chr6:74333600-74348200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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