Variant report

Variant	esv3357360
Chromosome Location	chr10:6447346-6451644
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6243567..6245351-chr10:6449520..6452478,2	K562	blood:
2	chr10:6241662..6248347-chr10:6438932..6450669,77	MCF-7	breast:
3	chr10:6150963..6151879-chr10:6447834..6448831,2	K562	blood:
4	chr10:6450455..6451151-chr10:6709767..6710280,2	MCF-7	breast:
5	chr10:6193155..6193668-chr10:6447562..6448411,2	K562	blood:
6	chr10:6130406..6131200-chr10:6448511..6449138,2	MCF-7	breast:
7	chr10:6447268..6450081-chr10:6450323..6453408,3	K562	blood:
8	chr10:6244274..6245038-chr10:6448223..6448963,3	MCF-7	breast:
9	chr10:6150561..6151530-chr10:6447877..6448813,5	MCF-7	breast:
10	chr10:6447268..6450081-chr10:6450323..6453408,3	K562	blood:
11	chr10:6407311..6409448-chr10:6446152..6447736,2	MCF-7	breast:
12	chr10:6128311..6129288-chr10:6448316..6448932,2	MCF-7	breast:
13	chr10:6184712..6187301-chr10:6446699..6448973,2	MCF-7	breast:
14	chr10:6437383..6440179-chr10:6448797..6450334,2	MCF-7	breast:
15	chr10:6240172..6247565-chr10:6441706..6450964,34	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134453	chromatin interactions
ENSG00000213994	chromatin interactions
ENSG00000170525	chromatin interactions

Extended variants
information (count: 153 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:153 , 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	rs531363416	chr10:6447349-6447350	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs549748429	chr10:6447350-6447351	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs571887340	chr10:6447369-6447370	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532849522	chr10:6447370-6447371	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs558072180	chr10:6447375-6447376	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs146150660	chr10:6447448-6447449	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs565957066	chr10:6447462-6447463	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs148786351	chr10:6447484-6447485	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs536986571	chr10:6447504-6447505	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs554678877	chr10:6447510-6447511	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs142460689	chr10:6447513-6447514	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs187760617	chr10:6447514-6447515	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs192334200	chr10:6447515-6447516	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs11258536	chr10:6447553-6447554	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs373170309	chr10:6447613-6447614	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs12414196	chr10:6447624-6447625	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs150871071	chr10:6447648-6447649	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs12414200	chr10:6447695-6447696	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs553748711	chr10:6447729-6447730	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs112076309	chr10:6447793-6447794	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs185531549	chr10:6447814-6447815	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs149159535	chr10:6447821-6447822	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs561014052	chr10:6447888-6447889	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs35580902	chr10:6447890-6447891	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs531426962	chr10:6447921-6447922	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs145117403	chr10:6447922-6447923	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs530459902	chr10:6447952-6447953	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs189433073	chr10:6447959-6447960	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs192699047	chr10:6447962-6447963	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs184457676	chr10:6447969-6447970	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs112728371	chr10:6447982-6447983	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs116560780	chr10:6448042-6448043	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs533341253	chr10:6448064-6448065	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs143158988	chr10:6448149-6448150	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs599922	chr10:6448274-6448275	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs147595647	chr10:6448319-6448320	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs537553369	chr10:6448321-6448322	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs558753961	chr10:6448329-6448330	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs78309345	chr10:6448330-6448331	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs140291934	chr10:6448366-6448367	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs631610	chr10:6448384-6448385	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs572368985	chr10:6448430-6448431	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs144242437	chr10:6448448-6448449	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs35702530	chr10:6448492-6448493	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs373999622	chr10:6448544-6448545	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs189218075	chr10:6448586-6448587	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs576110002	chr10:6448681-6448682	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs550224710	chr10:6448702-6448703	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs73621317	chr10:6448737-6448738	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs564796966	chr10:6448749-6448750	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6433800-6448600	Weak transcription	Primary T cells from cord blood	blood
2	chr10:6443400-6452000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:6443800-6451800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr10:6444000-6447600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr10:6444000-6447600	Weak transcription	Pancreas	Pancrea
6	chr10:6444000-6447800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr10:6444000-6448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr10:6444000-6448200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr10:6444000-6451200	Weak transcription	Aorta	Aorta
10	chr10:6444000-6451400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr10:6444000-6451600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr10:6444000-6452000	Weak transcription	Brain Anterior Caudate	brain
13	chr10:6444000-6452000	Weak transcription	Right Ventricle	heart
14	chr10:6444000-6452400	Weak transcription	Right Atrium	heart
15	chr10:6444200-6448000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr10:6444200-6448200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr10:6444200-6452000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr10:6444600-6447400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr10:6445200-6449000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:6445200-6451000	Weak transcription	Dnd41	blood
21	chr10:6445600-6450800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr10:6445600-6452000	Weak transcription	Psoas Muscle	Psoas
23	chr10:6445800-6448600	Weak transcription	Thymus	Thymus
24	chr10:6446000-6448600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr10:6446000-6452000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr10:6446400-6447800	Weak transcription	A549	lung
27	chr10:6447200-6447600	Active TSS	Spleen	Spleen
28	chr10:6447400-6448600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr10:6447600-6447800	ZNF genes & repeats	Pancreas	Pancrea
30	chr10:6447600-6448000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr10:6447600-6448000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:6447800-6448400	Enhancers	A549	lung
33	chr10:6447800-6449000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr10:6447800-6449400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr10:6447800-6449400	Weak transcription	Pancreas	Pancrea
36	chr10:6448000-6448200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:6448000-6448200	Bivalent Enhancer	HepG2	liver
38	chr10:6448000-6448600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr10:6448000-6448600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr10:6448200-6448400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr10:6448200-6449000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr10:6448200-6449600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr10:6448200-6449800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr10:6448400-6448800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr10:6448400-6448800	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr10:6448600-6448800	Enhancers	Primary T cells fromperipheralblood	blood
47	chr10:6448600-6448800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr10:6448600-6448800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr10:6448600-6448800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr10:6448600-6449200	Enhancers	Primary T cells from cord blood	blood

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