Variant report

Variant	esv3420710
Chromosome Location	chr1:10688815-10691313
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10689513..10692457-chr1:10716597..10719078,2	K562	blood:
2	chr1:10608473..10610056-chr1:10690153..10691726,2	MCF-7	breast:
3	chr1:10678742..10684022-chr1:10686327..10690416,7	K562	blood:
4	chr1:10689332..10692188-chr1:10697494..10699707,2	K562	blood:
5	chr1:10689613..10692712-chr1:10692856..10694997,3	K562	blood:
6	chr1:10574200..10574765-chr1:10689892..10690713,2	MCF-7	breast:
7	chr1:10687277..10689217-chr1:10709797..10712535,2	K562	blood:
8	chr1:10677648..10679513-chr1:10690006..10691964,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000130940	chromatin interactions
ENSG00000272078	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572064737	chr1:10688821-10688822	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs34912199	chr1:10688836-10688837	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570857572	chr1:10688842-10688843	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs540796207	chr1:10688923-10688924	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116129885	chr1:10688927-10688928	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs573927209	chr1:10688951-10688952	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs176164	chr1:10689000-10689001	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs78044805	chr1:10689055-10689056	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538142230	chr1:10689067-10689068	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144207237	chr1:10689092-10689093	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs34651567	chr1:10689117-10689118	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533107549	chr1:10689170-10689171	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs188878882	chr1:10689258-10689259	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs560599978	chr1:10689282-10689283	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs146625343	chr1:10689388-10689389	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs181291606	chr1:10689391-10689392	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs574375413	chr1:10689414-10689415	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs567459379	chr1:10689442-10689443	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs538085916	chr1:10689448-10689449	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs375804136	chr1:10689495-10689496	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs550054957	chr1:10689498-10689499	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs374603289	chr1:10689543-10689544	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs370745903	chr1:10689554-10689555	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs538606060	chr1:10689599-10689600	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs145899844	chr1:10689603-10689604	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs141373791	chr1:10689617-10689618	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs553512429	chr1:10689653-10689654	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs145103775	chr1:10689654-10689655	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs35723571	chr1:10689666-10689667	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs149265608	chr1:10689671-10689672	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs572037966	chr1:10689672-10689673	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs143378690	chr1:10689676-10689677	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs36083022	chr1:10689678-10689679	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs41274484	chr1:10689705-10689706	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs572028093	chr1:10689726-10689727	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs149801951	chr1:10689728-10689729	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs139518305	chr1:10689729-10689730	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs143412169	chr1:10689735-10689736	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs367820085	chr1:10689736-10689737	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs201107513	chr1:10689765-10689766	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs376758920	chr1:10689770-10689771	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs371329619	chr1:10689771-10689772	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs115117459	chr1:10689783-10689784	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs545357144	chr1:10689794-10689795	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs373974531	chr1:10689801-10689802	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs140533305	chr1:10689806-10689807	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs199860518	chr1:10689821-10689822	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs560264914	chr1:10689855-10689856	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs12070353	chr1:10689869-10689870	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs368244738	chr1:10689877-10689878	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10632600-10698000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:10651600-10715800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:10654800-10691600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:10658200-10694400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:10658400-10691600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:10659800-10690800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:10660200-10697600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:10661800-10692000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:10662200-10694400	Weak transcription	HSMM	muscle
10	chr1:10662400-10694400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:10664400-10698000	Weak transcription	Primary B cells from cord blood	blood
12	chr1:10672600-10694800	Strong transcription	Fetal Intestine Small	intestine
13	chr1:10675600-10690200	Weak transcription	GM12878-XiMat	blood
14	chr1:10676000-10691600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:10676200-10691600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:10676400-10690600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:10676400-10691800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:10676400-10691800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:10676600-10691800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:10676800-10691000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:10677000-10690000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:10680400-10693800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:10680400-10694400	Weak transcription	HSMMtube	muscle
24	chr1:10681200-10697600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:10681600-10691600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:10681800-10691800	Strong transcription	Primary T cells from cord blood	blood
27	chr1:10682000-10692600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:10682200-10694000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:10682200-10694600	Strong transcription	Fetal Intestine Large	intestine
30	chr1:10682400-10690600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:10682600-10693000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:10684600-10694600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:10685000-10689600	Weak transcription	Colonic Mucosa	Colon
34	chr1:10685000-10692000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:10685000-10695200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:10685200-10689000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:10685200-10689600	Weak transcription	Brain Anterior Caudate	brain
38	chr1:10685200-10689600	Weak transcription	Fetal Brain Female	brain
39	chr1:10685200-10691600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:10685200-10693000	Weak transcription	Brain Substantia Nigra	brain
41	chr1:10685200-10693600	Weak transcription	HMEC	breast
42	chr1:10685200-10695200	Weak transcription	Brain Angular Gyrus	brain
43	chr1:10685200-10699400	Weak transcription	Aorta	Aorta
44	chr1:10685400-10689600	Weak transcription	Dnd41	blood
45	chr1:10685400-10689800	Weak transcription	Brain Germinal Matrix	brain
46	chr1:10685400-10692000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:10685400-10692000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:10685600-10689000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:10685600-10689600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:10685800-10689000	Weak transcription	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links