Variant report

Variant	esv3345203
Chromosome Location	chr10:6224846-6226744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6223034..6224865-chr10:6226037..6228373,2	MCF-7	breast:
2	chr10:6226744..6228554-chr10:6230060..6232211,2	MCF-7	breast:
3	chr10:6224374..6226105-chr10:6243293..6245083,2	K562	blood:
4	chr10:6221913..6225643-chr10:6242936..6247292,5	MCF-7	breast:
5	chr10:6214556..6217350-chr10:6223472..6225536,2	MCF-7	breast:
6	chr10:6223034..6224865-chr10:6226037..6228373,2	MCF-7	breast:
7	chr10:6223957..6226913-chr10:6228760..6231952,3	K562	blood:
8	chr10:6225709..6229406-chr10:6233017..6236048,4	K562	blood:
9	chr10:6219777..6221661-chr10:6223252..6225930,2	MCF-7	breast:
10	chr10:6214505..6218231-chr10:6225488..6229463,4	K562	blood:
11	chr10:6207823..6209426-chr10:6222499..6224983,2	K562	blood:
12	chr10:6213961..6227951-chr10:6240689..6247831,28	MCF-7	breast:
13	chr10:6225709..6229798-chr10:6232088..6236048,5	K562	blood:
14	chr10:6223792..6226013-chr10:6250745..6253206,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213994	chromatin interactions
ENSG00000170525	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375910587	chr10:6224878-6224879	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs7073774	chr10:6224891-6224892	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs537521758	chr10:6224893-6224894	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs7096786	chr10:6224901-6224902	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs527283342	chr10:6224941-6224942	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs117729862	chr10:6224944-6224945	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs567845276	chr10:6224945-6224946	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs151257051	chr10:6224997-6224998	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs602440	chr10:6225000-6225001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs377074047	chr10:6225033-6225034	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs55768419	chr10:6225119-6225120	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs146496951	chr10:6225133-6225134	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs7911111	chr10:6225187-6225188	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
14	rs553966225	chr10:6225188-6225189	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs566113171	chr10:6225189-6225190	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs376155506	chr10:6225261-6225262	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs555669073	chr10:6225298-6225299	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs573567242	chr10:6225319-6225320	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs555113912	chr10:6225321-6225322	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs190966530	chr10:6225479-6225480	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs555897221	chr10:6225490-6225491	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs577330418	chr10:6225544-6225545	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs182675844	chr10:6225554-6225555	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371695446	chr10:6225575-6225576	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs368426269	chr10:6225576-6225577	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs377072070	chr10:6225577-6225578	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs371411251	chr10:6225578-6225579	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs535111554	chr10:6225579-6225580	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs200558050	chr10:6225581-6225582	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs187261981	chr10:6225655-6225656	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs556724306	chr10:6225657-6225658	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs199676467	chr10:6225658-6225659	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs527313846	chr10:6225671-6225672	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs599247	chr10:6225713-6225714	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs541983774	chr10:6225737-6225738	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs561647489	chr10:6225752-6225753	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs531995851	chr10:6225754-6225755	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs550405849	chr10:6225794-6225795	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs571910283	chr10:6225799-6225800	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs532750198	chr10:6225807-6225808	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs547898913	chr10:6225808-6225809	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs566026444	chr10:6225818-6225819	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs536667486	chr10:6225826-6225827	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs192012938	chr10:6225835-6225836	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs142958895	chr10:6225842-6225843	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs182877335	chr10:6225844-6225845	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs556034268	chr10:6225889-6225890	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs577440978	chr10:6225896-6225897	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs7067727	chr10:6225906-6225907	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs148585715	chr10:6225928-6225929	Weak transcription	Chromatin interactive region	2 gene(s)	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
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6188400-6225200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:6207000-6244400	Weak transcription	Hela-S3	cervix
3	chr10:6214200-6239800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr10:6215000-6237200	Weak transcription	Primary B cells from cord blood	blood
5	chr10:6216200-6237400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr10:6216600-6230000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr10:6218800-6227800	Weak transcription	NHDF-Ad	bronchial
8	chr10:6219000-6240600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:6219200-6226800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr10:6219200-6227000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr10:6219200-6227400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr10:6219200-6228200	Weak transcription	HMEC	breast
13	chr10:6219200-6228200	Weak transcription	NH-A	brain
14	chr10:6219200-6232800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr10:6219200-6236400	Weak transcription	Primary T cells from cord blood	blood
16	chr10:6219200-6240600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:6219200-6242200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr10:6219200-6242400	Weak transcription	NHEK	skin
19	chr10:6220200-6228200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:6220400-6227200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:6220400-6227200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:6220400-6233200	Weak transcription	NHLF	lung
23	chr10:6220400-6242600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr10:6220800-6237200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:6221600-6227200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr10:6221600-6230200	Weak transcription	Right Atrium	heart
27	chr10:6222800-6242800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr10:6223600-6225200	Enhancers	Right Ventricle	heart
29	chr10:6223600-6225400	Enhancers	Adipose Nuclei	Adipose
30	chr10:6223800-6226800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr10:6224000-6225000	Enhancers	Psoas Muscle	Psoas
32	chr10:6224000-6225200	Enhancers	Liver	Liver
33	chr10:6224000-6225200	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr10:6224000-6225200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr10:6224000-6225200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr10:6224000-6225400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:6224000-6225600	Enhancers	Fetal Muscle Leg	muscle
38	chr10:6224200-6225000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:6224200-6225000	Enhancers	Colonic Mucosa	Colon
40	chr10:6224200-6225000	Enhancers	Gastric	stomach
41	chr10:6224200-6225000	Enhancers	Left Ventricle	heart
42	chr10:6224200-6225000	Enhancers	Lung	lung
43	chr10:6224200-6225000	Enhancers	Ovary	ovary
44	chr10:6224200-6225000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr10:6224200-6225000	Enhancers	Spleen	Spleen
46	chr10:6224200-6225400	Enhancers	Brain Angular Gyrus	brain
47	chr10:6224200-6225400	Enhancers	Brain Cingulate Gyrus	brain
48	chr10:6224200-6225400	Enhancers	Brain Hippocampus Middle	brain
49	chr10:6224200-6225400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr10:6224200-6225400	Enhancers	Fetal Thymus	thymus

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