Variant report

Variant	rs10497522
Chromosome Location	chr2:179652047-179652048
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179648853..179650532-chr2:179651365..179653001,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10171049	0.82[YRI][hapmap]
rs10221590	1.00[CEU][hapmap];0.82[YRI][hapmap]
rs10497519	1.00[CEU][hapmap]
rs10497524	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10497525	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11887915	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11888217	1.00[TSI][hapmap]
rs11892354	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11895382	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs11897386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11904138	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12693168	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13398235	1.00[TSI][hapmap]
rs13421990	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap]
rs1484120	1.00[CEU][hapmap];0.82[YRI][hapmap]
rs1552280	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16866519	1.00[CEU][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes]
rs17355623	1.00[CEU][hapmap]
rs1872202	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1905520	1.00[CEU][hapmap]
rs1905521	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2035496	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2046778	0.82[CHB][hapmap]
rs2054706	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2054707	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2054708	0.85[GIH][hapmap]
rs2291301	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2291302	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2291303	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2291312	0.82[YRI][hapmap]
rs2303836	0.85[JPT][hapmap]
rs2306637	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2366752	1.00[CEU][hapmap]
rs3754949	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3754950	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3769859	0.81[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs3769861	0.94[ASN][1000 genomes]
rs3769862	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3816781	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4893852	1.00[TSI][hapmap]
rs4893853	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes]
rs4894037	0.82[YRI][hapmap]
rs4894040	1.00[CEU][hapmap]
rs4894041	1.00[CEU][hapmap];0.82[YRI][hapmap]
rs4894045	1.00[CEU][hapmap];0.82[YRI][hapmap]
rs4894048	1.00[CEU][hapmap];0.88[GIH][hapmap]
rs4894049	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs58152091	0.94[ASN][1000 genomes]
rs60305852	0.94[ASN][1000 genomes]
rs61680869	0.94[ASN][1000 genomes]
rs719201	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs72647887	0.80[AFR][1000 genomes]
rs72647888	0.80[AFR][1000 genomes]
rs73973151	0.94[ASN][1000 genomes]
rs7572955	1.00[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179533600-179669200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:179605400-179662400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:179610800-179671400	Weak transcription	Ovary	ovary
4	chr2:179627000-179655200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:179627400-179653200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:179627600-179652600	Weak transcription	Brain Substantia Nigra	brain
7	chr2:179627600-179663800	Weak transcription	Thymus	Thymus
8	chr2:179629600-179666200	Weak transcription	GM12878-XiMat	blood
9	chr2:179632000-179658800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:179632400-179667800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:179636200-179660600	Weak transcription	Brain Anterior Caudate	brain
12	chr2:179639000-179672000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:179639400-179671400	Weak transcription	Gastric	stomach
14	chr2:179642600-179653000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:179644800-179655400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:179646000-179657600	Weak transcription	Primary B cells from cord blood	blood
17	chr2:179646000-179684800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr2:179646400-179659400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:179647800-179655400	Weak transcription	Pancreas	Pancrea
20	chr2:179647800-179658800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:179647800-179672000	Weak transcription	Fetal Thymus	thymus
22	chr2:179648400-179667200	Weak transcription	HSMM	muscle
23	chr2:179649000-179657600	Weak transcription	Aorta	Aorta
24	chr2:179649200-179655200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:179649200-179657600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:179650400-179664400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:179650600-179655400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:179650600-179657400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr2:179650800-179653000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:179650800-179657200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:179650800-179657400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:179650800-179662800	Weak transcription	Fetal Intestine Large	intestine
33	chr2:179651000-179652800	Weak transcription	HSMMtube	muscle
34	chr2:179651000-179654000	Weak transcription	Left Ventricle	heart
35	chr2:179651000-179655400	Weak transcription	Primary T cells from cord blood	blood
36	chr2:179651000-179655400	Weak transcription	Psoas Muscle	Psoas
37	chr2:179651000-179655800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:179651000-179655800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr2:179651000-179655800	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:179651400-179655600	Weak transcription	Right Ventricle	heart
41	chr2:179651600-179652200	Enhancers	Fetal Heart	heart

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