Variant report

Variant	rs10490445
Chromosome Location	chr2:37617484-37617485
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37617148..37619096-chr2:37640287..37642419,2	K562	blood:
2	chr2:37550683..37552401-chr2:37616317..37619162,3	MCF-7	breast:
3	chr2:37445368..37447696-chr2:37615687..37618666,2	MCF-7	breast:
4	chr2:37616988..37619309-chr2:37620004..37622156,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115825	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10173794	0.89[ASN][1000 genomes]
rs11886889	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12615162	0.84[EUR][1000 genomes]
rs12617664	0.80[ASN][1000 genomes]
rs17020706	0.83[ASN][1000 genomes]
rs2058717	0.81[ASN][1000 genomes]
rs4510203	0.84[EUR][1000 genomes]
rs4670198	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4670703	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4670704	0.92[ASN][1000 genomes]
rs4670708	0.82[ASN][1000 genomes]
rs56107750	0.80[ASN][1000 genomes]
rs58027408	0.82[ASN][1000 genomes]
rs58864283	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6544073	0.96[LWK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs72792862	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72792863	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72792867	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7564835	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7567553	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870803	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs870804	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37607400-37618200	Weak transcription	Right Atrium	heart
2	chr2:37613600-37618400	Enhancers	NHDF-Ad	bronchial
3	chr2:37614200-37618400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:37614200-37618600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:37614200-37618600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:37614400-37618400	Enhancers	HMEC	breast
7	chr2:37614800-37623000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:37615000-37618800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr2:37615200-37618600	Enhancers	Osteobl	bone
10	chr2:37615200-37619200	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:37615400-37618600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:37615800-37618600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:37616000-37618000	Enhancers	Spleen	Spleen
14	chr2:37616000-37618400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr2:37616000-37619000	Enhancers	Primary B cells from cord blood	blood
16	chr2:37616000-37619800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:37616200-37618600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:37616200-37618800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:37616400-37618200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:37616400-37618600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr2:37616600-37617600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:37616600-37617600	Enhancers	Lung	lung
23	chr2:37616600-37617600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr2:37616600-37617800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:37616600-37618000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:37616600-37618000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr2:37616600-37618000	Enhancers	Thymus	Thymus
28	chr2:37616600-37618400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:37616600-37618400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:37616600-37618400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:37616600-37618400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr2:37616600-37618400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:37616600-37618400	Enhancers	Esophagus	oesophagus
34	chr2:37616600-37618400	Enhancers	Left Ventricle	heart
35	chr2:37616600-37618400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:37616600-37618400	Flanking Active TSS	GM12878-XiMat	blood
37	chr2:37616600-37618400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr2:37616600-37618600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr2:37616600-37618600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:37616600-37618600	Enhancers	Fetal Thymus	thymus
41	chr2:37616600-37618600	Enhancers	Hela-S3	cervix
42	chr2:37616600-37618800	Enhancers	Primary hematopoietic stem cells	blood
43	chr2:37616600-37618800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr2:37616800-37618000	Enhancers	HSMM	muscle
45	chr2:37616800-37618200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr2:37616800-37618200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr2:37616800-37618200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:37616800-37618200	Enhancers	Adipose Nuclei	Adipose
49	chr2:37616800-37618200	Enhancers	Brain Anterior Caudate	brain
50	chr2:37616800-37618200	Enhancers	Skeletal Muscle Male	skeletal muscle

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