Variant report

Variant	nsv519746
Chromosome Location	chr10:359403-373048
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:359212..361579-chr10:361961..364084,3	MCF-7	breast:
2	chr10:356751..359070-chr10:359184..361438,2	MCF-7	breast:
3	chr10:354319..356536-chr10:361569..363521,3	MCF-7	breast:
4	chr10:352441..354760-chr10:358582..361541,3	MCF-7	breast:
5	chr10:370303..371303-chr19:21751622..21752236,2	MCF-7	breast:
6	chr10:359212..361579-chr10:361961..364084,3	MCF-7	breast:
7	chr10:368780..371728-chr10:384825..386792,2	MCF-7	breast:
8	chr10:359838..363980-chr10:372787..377005,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151240	chromatin interactions
ENSG00000268081	chromatin interactions

Extended variants
information (count: 836 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:836 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386739738	chr10:359403-359404	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74116621	chr10:359405-359406	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564688334	chr10:359407-359408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565823692	chr10:359413-359414	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564214704	chr10:359414-359415	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143844578	chr10:359425-359426	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200952925	chr10:359426-359427	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34244883	chr10:359427-359428	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10636363	chr10:359429-359430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116813458	chr10:359430-359431	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182870085	chr10:359448-359449	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563792405	chr10:359451-359452	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187931604	chr10:359467-359468	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144234823	chr10:359473-359474	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549350282	chr10:359488-359489	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148967527	chr10:359493-359494	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528586067	chr10:359501-359502	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200605723	chr10:359505-359506	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570603996	chr10:359541-359542	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112787452	chr10:359552-359553	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534800098	chr10:359555-359556	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs151053119	chr10:359573-359574	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535126350	chr10:359574-359575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554934325	chr10:359633-359634	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369841960	chr10:359644-359645	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140938694	chr10:359646-359647	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192460016	chr10:359652-359653	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377159116	chr10:359680-359681	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372872458	chr10:359708-359709	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557681869	chr10:359757-359758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564008278	chr10:359760-359761	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529607958	chr10:359769-359770	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543082567	chr10:359778-359779	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184380623	chr10:359820-359821	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144960315	chr10:359876-359877	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs377271689	chr10:359885-359886	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs138142593	chr10:359901-359902	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs565198891	chr10:359904-359905	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12268902	chr10:359921-359922	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs368709512	chr10:359930-359931	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs141097294	chr10:359985-359986	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536915289	chr10:359990-359991	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs535349239	chr10:359991-359992	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs548598454	chr10:360035-360036	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs565362102	chr10:360040-360041	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs534290851	chr10:360041-360042	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187946364	chr10:360051-360052	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs557209068	chr10:360071-360072	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs75493545	chr10:360076-360077	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144805238	chr10:360079-360080	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	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
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
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:696 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:321400-360400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr10:326000-363800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr10:327800-360800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr10:329000-375200	Weak transcription	Psoas Muscle	Psoas
5	chr10:329200-360400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr10:331400-375400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr10:333000-362600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:337400-363200	Weak transcription	Esophagus	oesophagus
9	chr10:342400-375600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr10:343600-363200	Weak transcription	Fetal Brain Male	brain
11	chr10:343600-363600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:344200-369400	Weak transcription	A549	lung
13	chr10:344200-369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:344400-360400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr10:344400-363200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr10:344800-360400	Weak transcription	Small Intestine	intestine
17	chr10:346000-367400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:349200-379400	Weak transcription	Thymus	Thymus
19	chr10:351200-360000	Weak transcription	Primary T cells from cord blood	blood
20	chr10:351200-363200	Weak transcription	Aorta	Aorta
21	chr10:351400-367600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr10:353200-375600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr10:353200-375600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr10:353400-363200	Weak transcription	Fetal Kidney	kidney
25	chr10:353400-367000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr10:353600-363000	Weak transcription	Fetal Heart	heart
27	chr10:354000-369800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr10:354000-372200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:354400-360200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr10:354400-369800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr10:354800-363200	Weak transcription	NH-A	brain
32	chr10:355000-362000	Weak transcription	Placenta	Placenta
33	chr10:355000-366800	Weak transcription	Colonic Mucosa	Colon
34	chr10:355000-375400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr10:355200-363200	Weak transcription	Gastric	stomach
36	chr10:355200-363200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr10:355200-363800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr10:355200-363800	Weak transcription	Right Atrium	heart
39	chr10:355200-372200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr10:355400-360200	Weak transcription	Spleen	Spleen
41	chr10:355400-363200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr10:355400-363600	Weak transcription	HepG2	liver
43	chr10:355400-382800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr10:355600-360200	Weak transcription	HSMM	muscle
45	chr10:355600-360400	Weak transcription	HSMMtube	muscle
46	chr10:355600-362400	Weak transcription	Right Ventricle	heart
47	chr10:355600-363000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr10:355800-360200	Weak transcription	NHLF	lung
49	chr10:356000-362400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr10:356000-363000	Weak transcription	Ovary	ovary

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