Variant report

Variant	nsv5687
Chromosome Location	chr10:6537209-6556751
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6545334..6548106-chr10:6549054..6551114,2	K562	blood:
2	chr10:6515689..6518540-chr10:6536895..6539799,2	K562	blood:
3	chr10:6546427..6548106-chr10:6549614..6551845,2	K562	blood:
4	chr10:6554252..6556682-chr10:6558816..6560926,2	K562	blood:
5	chr10:6531681..6534268-chr10:6546145..6550196,3	K562	blood:
6	chr10:6546427..6548106-chr10:6549614..6551845,2	K562	blood:
7	chr10:6536042..6540361-chr10:6554431..6558363,4	K562	blood:
8	chr10:6542478..6544249-chr10:6551947..6554628,2	K562	blood:
9	chr10:6542478..6544249-chr10:6551947..6554628,2	K562	blood:
10	chr10:6536042..6540361-chr10:6554431..6558363,4	K562	blood:
11	chr10:6545334..6548106-chr10:6549054..6551114,2	K562	blood:

No data

Extended variants
information (count: 797 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:797 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6602746	chr10:6537267-6537268	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7922677	chr10:6537294-6537295	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564803201	chr10:6537307-6537308	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs532252115	chr10:6537344-6537345	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs605556	chr10:6537345-6537346	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565541756	chr10:6537368-6537369	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs536089676	chr10:6537375-6537376	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs115422764	chr10:6537385-6537386	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs569641705	chr10:6537398-6537399	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs116780242	chr10:6537402-6537403	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs11259212	chr10:6537425-6537426	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs578003870	chr10:6537427-6537428	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs574232940	chr10:6537428-6537429	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs193224672	chr10:6537434-6537435	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs6602747	chr10:6537456-6537457	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs10906712	chr10:6537465-6537466	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs185564683	chr10:6537470-6537471	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs187382262	chr10:6537528-6537529	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs148260223	chr10:6537545-6537546	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560093367	chr10:6537552-6537553	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs564909253	chr10:6537571-6537572	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs115511377	chr10:6537587-6537588	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs547466898	chr10:6537592-6537593	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs112271544	chr10:6537607-6537608	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs116420419	chr10:6537620-6537621	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs80275416	chr10:6537648-6537649	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs548003255	chr10:6537680-6537681	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs577239759	chr10:6537692-6537693	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs569579740	chr10:6537733-6537734	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs537361237	chr10:6537764-6537765	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs141367499	chr10:6537768-6537769	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs571609652	chr10:6537779-6537780	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs538695203	chr10:6537801-6537802	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554291151	chr10:6537805-6537806	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192107522	chr10:6537952-6537953	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536814836	chr10:6537964-6537965	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184704572	chr10:6537998-6537999	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555220214	chr10:6538008-6538009	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535816375	chr10:6538038-6538039	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150761918	chr10:6538039-6538040	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374432789	chr10:6538055-6538056	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs790816	chr10:6538082-6538083	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs371294308	chr10:6538092-6538093	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565486970	chr10:6538108-6538109	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576764615	chr10:6538114-6538115	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540661776	chr10:6538121-6538122	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558994240	chr10:6538153-6538154	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs199934718	chr10:6538179-6538180	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143089834	chr10:6538294-6538295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565660	chr10:6538303-6538304	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:530 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6496600-6539200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr10:6499200-6562000	Weak transcription	Brain Anterior Caudate	brain
3	chr10:6501800-6557000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr10:6509200-6541200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr10:6510000-6572000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr10:6514000-6540000	Weak transcription	Psoas Muscle	Psoas
7	chr10:6517200-6557800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:6517600-6539600	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr10:6517600-6541800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr10:6518200-6556800	Weak transcription	Fetal Intestine Large	intestine
11	chr10:6519200-6544400	Weak transcription	Spleen	Spleen
12	chr10:6525800-6539400	Weak transcription	Primary B cells from cord blood	blood
13	chr10:6526600-6553000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:6527400-6542000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr10:6528400-6540800	Weak transcription	Brain Angular Gyrus	brain
16	chr10:6529000-6546200	Weak transcription	Esophagus	oesophagus
17	chr10:6529000-6552800	Weak transcription	Lung	lung
18	chr10:6530400-6552600	Weak transcription	K562	blood
19	chr10:6533600-6539800	Weak transcription	Brain Substantia Nigra	brain
20	chr10:6533800-6552800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:6534000-6537400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr10:6534400-6545800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr10:6535200-6537800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr10:6535400-6537800	Genic enhancers	Primary T cells from cord blood	blood
25	chr10:6535400-6553400	Weak transcription	Gastric	stomach
26	chr10:6535600-6537400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr10:6535800-6537400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr10:6535800-6537800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
29	chr10:6535800-6537800	Enhancers	Duodenum Mucosa	Duodenum
30	chr10:6535800-6537800	Enhancers	Small Intestine	intestine
31	chr10:6535800-6538000	Genic enhancers	Fetal Thymus	thymus
32	chr10:6535800-6538000	Genic enhancers	Dnd41	blood
33	chr10:6536000-6537400	Strong transcription	Fetal Stomach	stomach
34	chr10:6536000-6537600	Strong transcription	Pancreas	Pancrea
35	chr10:6536000-6537800	Strong transcription	Brain Hippocampus Middle	brain
36	chr10:6536000-6541400	Strong transcription	Fetal Muscle Leg	muscle
37	chr10:6536200-6537600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
38	chr10:6536200-6537600	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
39	chr10:6536200-6537800	Genic enhancers	Primary hematopoietic stem cells	blood
40	chr10:6536200-6538000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr10:6536200-6539600	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr10:6536200-6540800	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr10:6536400-6537800	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
44	chr10:6536400-6540000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr10:6536600-6537800	Genic enhancers	Thymus	Thymus
46	chr10:6536600-6552800	Weak transcription	Fetal Intestine Small	intestine
47	chr10:6536800-6537400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr10:6536800-6537400	Bivalent/Poised TSS	HepG2	liver
49	chr10:6536800-6537600	Enhancers	Primary B cells from peripheral blood	blood
50	chr10:6536800-6537600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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