Variant report

Variant	nsv947853
Chromosome Location	chr10:38301938-38306401
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:38298051..38301249-chr10:38301272..38302914,3	MCF-7	breast:
2	chr10:38300184..38303990-chr10:38304744..38308090,4	K562	blood:
3	chr10:38298520..38302373-chr10:38302869..38306244,5	K562	blood:

Variant related genes	Relation type
ENSG00000189180	chromatin interactions

Extended variants
information (count: 160 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:160 , 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	rs144804696	chr10:38301960-38301961	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs186706933	chr10:38301991-38301992	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560341744	chr10:38301999-38302000	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs576736733	chr10:38302008-38302009	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs544145930	chr10:38302038-38302039	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148554244	chr10:38302062-38302063	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs142893875	chr10:38302124-38302125	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs146573640	chr10:38302163-38302164	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs35067108	chr10:38302189-38302190	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs140053703	chr10:38302222-38302223	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs143589335	chr10:38302239-38302240	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530078789	chr10:38302303-38302304	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs550205798	chr10:38302337-38302338	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189485550	chr10:38302363-38302364	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs370627637	chr10:38302364-38302365	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs2749569	chr10:38302366-38302367	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs146776801	chr10:38302369-38302370	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs566176261	chr10:38302431-38302432	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs181052160	chr10:38302442-38302443	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs28479844	chr10:38302448-38302449	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554216728	chr10:38302472-38302473	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs185349851	chr10:38302511-38302512	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140902445	chr10:38302517-38302518	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs367794418	chr10:38302534-38302535	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs556544124	chr10:38302542-38302543	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs576726082	chr10:38302576-38302577	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11597703	chr10:38302599-38302600	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs564116308	chr10:38302620-38302621	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs145590943	chr10:38302651-38302652	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533251153	chr10:38302696-38302697	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs546694886	chr10:38302715-38302716	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs118085716	chr10:38302759-38302760	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs561321924	chr10:38302805-38302806	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs530218891	chr10:38302820-38302821	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs148874404	chr10:38302825-38302826	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs563713062	chr10:38302829-38302830	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs372052812	chr10:38302834-38302835	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs532824566	chr10:38302854-38302855	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529506540	chr10:38302864-38302865	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs201540594	chr10:38302866-38302867	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374610408	chr10:38302886-38302887	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs11593864	chr10:38302909-38302910	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs369440896	chr10:38302912-38302913	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs528643414	chr10:38302925-38302926	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs598857	chr10:38302926-38302927	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs149353267	chr10:38302960-38302961	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs202118559	chr10:38302964-38302965	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534428	chr10:38302991-38302992	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567770584	chr10:38303019-38303020	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs189659345	chr10:38303062-38303063	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Lung cancer	21569311	CNVD
Colorectal cancer	20459617	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Central neurocytomas	17123091	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38300400-38304200	Weak transcription	Esophagus	oesophagus
2	chr10:38300400-38305200	Weak transcription	Lung	lung
3	chr10:38300400-38305800	Weak transcription	Ovary	ovary
4	chr10:38300400-38305800	Weak transcription	Spleen	Spleen
5	chr10:38300400-38306000	Weak transcription	Small Intestine	intestine
6	chr10:38300400-38319600	Weak transcription	Gastric	stomach
7	chr10:38300600-38302000	Flanking Active TSS	Dnd41	blood
8	chr10:38300600-38303600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:38300600-38304000	Weak transcription	Aorta	Aorta
10	chr10:38300600-38305200	Weak transcription	Left Ventricle	heart
11	chr10:38300600-38306000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:38300600-38306000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr10:38300600-38318000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:38300600-38331600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:38300600-38336000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:38300600-38339400	Weak transcription	Psoas Muscle	Psoas
17	chr10:38300800-38302000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr10:38300800-38302200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr10:38300800-38302400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr10:38300800-38302400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:38300800-38302600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr10:38300800-38302800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr10:38300800-38302800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr10:38300800-38303000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:38300800-38303200	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr10:38300800-38303400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr10:38300800-38303600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr10:38300800-38304200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:38300800-38304600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr10:38300800-38305600	Weak transcription	NHDF-Ad	bronchial
31	chr10:38300800-38306200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr10:38300800-38306600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr10:38300800-38307000	Weak transcription	Colonic Mucosa	Colon
34	chr10:38300800-38307200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr10:38300800-38307600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr10:38300800-38308600	Weak transcription	HSMM	muscle
37	chr10:38300800-38322000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr10:38300800-38339200	Weak transcription	HSMMtube	muscle
39	chr10:38301000-38302000	Enhancers	Fetal Brain Female	brain
40	chr10:38301000-38302200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
41	chr10:38301000-38302400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr10:38301000-38302600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:38301000-38302600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr10:38301000-38302800	Weak transcription	Adipose Nuclei	Adipose
45	chr10:38301000-38302800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr10:38301000-38303200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr10:38301000-38303400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr10:38301000-38304000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr10:38301000-38304800	Weak transcription	Brain Hippocampus Middle	brain
50	chr10:38301000-38305000	Weak transcription	Brain Angular Gyrus	brain

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