Variant report

Variant	rs10497523
Chromosome Location	chr2:179652802-179652803
allele	A/G
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: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10497520	0.82[CHB][hapmap]
rs12185628	0.85[ASN][1000 genomes]
rs16866412	0.90[JPT][hapmap]
rs16866423	0.90[JPT][hapmap]
rs16866535	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2115558	0.90[JPT][hapmap]
rs3769863	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs3813240	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs3816849	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4894050	0.82[CEU][hapmap]
rs962285	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

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:40 , 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	chr2:179627600-179663800	Weak transcription	Thymus	Thymus
7	chr2:179629600-179666200	Weak transcription	GM12878-XiMat	blood
8	chr2:179632000-179658800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:179632400-179667800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:179636200-179660600	Weak transcription	Brain Anterior Caudate	brain
11	chr2:179639000-179672000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:179639400-179671400	Weak transcription	Gastric	stomach
13	chr2:179642600-179653000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:179644800-179655400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr2:179646000-179657600	Weak transcription	Primary B cells from cord blood	blood
16	chr2:179646000-179684800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:179646400-179659400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:179647800-179655400	Weak transcription	Pancreas	Pancrea
19	chr2:179647800-179658800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:179647800-179672000	Weak transcription	Fetal Thymus	thymus
21	chr2:179648400-179667200	Weak transcription	HSMM	muscle
22	chr2:179649000-179657600	Weak transcription	Aorta	Aorta
23	chr2:179649200-179655200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:179649200-179657600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:179650400-179664400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:179650600-179655400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:179650600-179657400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr2:179650800-179653000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:179650800-179657200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:179650800-179657400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:179650800-179662800	Weak transcription	Fetal Intestine Large	intestine
32	chr2:179651000-179654000	Weak transcription	Left Ventricle	heart
33	chr2:179651000-179655400	Weak transcription	Primary T cells from cord blood	blood
34	chr2:179651000-179655400	Weak transcription	Psoas Muscle	Psoas
35	chr2:179651000-179655800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:179651000-179655800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:179651000-179655800	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:179651400-179655600	Weak transcription	Right Ventricle	heart
39	chr2:179652200-179653000	Weak transcription	Fetal Heart	heart
40	chr2:179652800-179653200	Strong transcription	HSMMtube	muscle

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