Variant report

Variant	rs529642
Chromosome Location	chr1:94979573-94979574
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10399782	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146475	1.00[EUR][1000 genomes]
rs1146478	1.00[EUR][1000 genomes]
rs1146479	1.00[EUR][1000 genomes]
rs1146506	1.00[EUR][1000 genomes]
rs1146516	1.00[EUR][1000 genomes]
rs11801203	1.00[EUR][1000 genomes]
rs11801251	1.00[EUR][1000 genomes]
rs12064943	1.00[EUR][1000 genomes]
rs12065028	1.00[EUR][1000 genomes]
rs12069536	1.00[EUR][1000 genomes]
rs1303136	1.00[EUR][1000 genomes]
rs1318396	1.00[EUR][1000 genomes]
rs1330856	1.00[EUR][1000 genomes]
rs1337856	1.00[EUR][1000 genomes]
rs1337857	1.00[EUR][1000 genomes]
rs1343483	1.00[EUR][1000 genomes]
rs1361124	1.00[EUR][1000 genomes]
rs1571645	1.00[EUR][1000 genomes]
rs1577920	1.00[EUR][1000 genomes]
rs1616972	1.00[EUR][1000 genomes]
rs1617363	1.00[EUR][1000 genomes]
rs1617719	1.00[EUR][1000 genomes]
rs1687921	1.00[EUR][1000 genomes]
rs1687925	1.00[EUR][1000 genomes]
rs1687926	1.00[EUR][1000 genomes]
rs1687929	1.00[EUR][1000 genomes]
rs1687934	1.00[EUR][1000 genomes]
rs1687938	1.00[EUR][1000 genomes]
rs1687939	1.00[EUR][1000 genomes]
rs1687942	1.00[EUR][1000 genomes]
rs1687945	1.00[EUR][1000 genomes]
rs1687953	1.00[EUR][1000 genomes]
rs1687958	1.00[EUR][1000 genomes]
rs1687959	1.00[EUR][1000 genomes]
rs1687960	1.00[EUR][1000 genomes]
rs1687967	1.00[EUR][1000 genomes]
rs1687969	1.00[EUR][1000 genomes]
rs17111347	1.00[EUR][1000 genomes]
rs1747656	1.00[EUR][1000 genomes]
rs1747658	1.00[EUR][1000 genomes]
rs1749540	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1756256	1.00[EUR][1000 genomes]
rs1756258	1.00[EUR][1000 genomes]
rs1756263	1.00[EUR][1000 genomes]
rs1756264	1.00[EUR][1000 genomes]
rs1765616	1.00[EUR][1000 genomes]
rs1765624	1.00[EUR][1000 genomes]
rs1765625	1.00[EUR][1000 genomes]
rs1765631	1.00[EUR][1000 genomes]
rs1765633	1.00[EUR][1000 genomes]
rs1765634	1.00[EUR][1000 genomes]
rs1765638	1.00[EUR][1000 genomes]
rs1765639	1.00[EUR][1000 genomes]
rs1765642	1.00[EUR][1000 genomes]
rs1765653	0.86[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1772902	1.00[EUR][1000 genomes]
rs1778210	1.00[EUR][1000 genomes]
rs2094824	1.00[EUR][1000 genomes]
rs2391471	1.00[EUR][1000 genomes]
rs2798944	1.00[EUR][1000 genomes]
rs28494821	1.00[EUR][1000 genomes]
rs2893296	1.00[EUR][1000 genomes]
rs2971948	1.00[EUR][1000 genomes]
rs475110	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs479627	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs484420	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4847315	1.00[EUR][1000 genomes]
rs512648	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs513976	1.00[ASW][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs598962	1.00[EUR][1000 genomes]
rs610088	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs630382	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6660037	1.00[EUR][1000 genomes]
rs698945	1.00[EUR][1000 genomes]
rs7417304	1.00[EUR][1000 genomes]
rs768967	1.00[EUR][1000 genomes]
rs860909	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871764	chr1:94917402-95004084	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv947290	chr1:94970084-94984156	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94914800-94985800	Weak transcription	NHLF	lung
2	chr1:94915400-94993200	Weak transcription	HSMMtube	muscle
3	chr1:94916000-94993000	Weak transcription	Esophagus	oesophagus
4	chr1:94917800-95000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:94923800-95000400	Weak transcription	Aorta	Aorta
6	chr1:94929400-94980200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:94929600-94985400	Weak transcription	Fetal Brain Female	brain
8	chr1:94942400-94997200	Weak transcription	Right Ventricle	heart
9	chr1:94946400-94993000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:94952800-94987800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:94952800-94993000	Weak transcription	Brain Angular Gyrus	brain
12	chr1:94952800-94993400	Weak transcription	Brain Substantia Nigra	brain
13	chr1:94956200-95004000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:94956600-94987200	Weak transcription	Fetal Heart	heart
15	chr1:94958000-94985400	Weak transcription	Fetal Brain Male	brain
16	chr1:94958400-94982600	Weak transcription	HMEC	breast
17	chr1:94958400-94992200	Weak transcription	NHDF-Ad	bronchial
18	chr1:94958400-94993200	Weak transcription	NH-A	brain
19	chr1:94958600-94987600	Weak transcription	Primary B cells from cord blood	blood
20	chr1:94958600-95004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:94962000-94988000	Weak transcription	HUVEC	blood vessel
22	chr1:94965400-94987800	Weak transcription	GM12878-XiMat	blood
23	chr1:94965400-94995800	Weak transcription	HSMM	muscle
24	chr1:94965600-94982000	Weak transcription	Stomach Mucosa	stomach
25	chr1:94965600-94988200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:94965600-95000400	Weak transcription	Small Intestine	intestine
27	chr1:94965600-95006400	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:94966200-94993000	Weak transcription	Hela-S3	cervix
29	chr1:94967200-94993000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:94969000-94982600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:94969200-94987000	Weak transcription	Osteobl	bone
32	chr1:94969200-94996200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:94969200-95000400	Weak transcription	Colonic Mucosa	Colon
34	chr1:94969400-94980600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:94969400-94984800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:94969400-94988000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:94970000-94982000	Weak transcription	Fetal Intestine Small	intestine
38	chr1:94970200-94983000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:94970200-94993000	Weak transcription	Brain Anterior Caudate	brain
40	chr1:94970400-94982200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:94970400-94986000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:94970400-94993200	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:94970400-94996000	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:94970400-95003800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:94971000-94993000	Weak transcription	Ovary	ovary
46	chr1:94971000-94996600	Weak transcription	Fetal Stomach	stomach
47	chr1:94971000-94999800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr1:94971400-94995800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:94971600-94985000	Weak transcription	Fetal Lung	lung
50	chr1:94972000-94981600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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