Variant report

Variant	rs7653505
Chromosome Location	chr3:49518023-49518024
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1009051	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10155014	0.85[AFR][1000 genomes]
rs10452032	1.00[CHD][hapmap];0.84[MKK][hapmap]
rs1078341	1.00[CHD][hapmap];0.85[MKK][hapmap]
rs10865956	1.00[CHD][hapmap];0.84[MKK][hapmap]
rs11130208	1.00[CHD][hapmap];0.89[MKK][hapmap]
rs11130211	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11715060	0.84[AFR][1000 genomes]
rs11719762	1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs11721148	1.00[ASN][1000 genomes]
rs11923032	0.81[AFR][1000 genomes]
rs11928090	1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs12583	1.00[CHD][hapmap];0.84[MKK][hapmap]
rs12637313	1.00[CHD][hapmap]
rs13096474	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs13322887	1.00[CHD][hapmap];0.84[MKK][hapmap]
rs1352889	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[MKK][hapmap];1.00[ASN][1000 genomes]
rs1464569	1.00[ASW][hapmap];1.00[CHB][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs1491983	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[MKK][hapmap];1.00[ASN][1000 genomes]
rs17080510	1.00[CHB][hapmap]
rs1982861	1.00[CHD][hapmap];0.84[MKK][hapmap]
rs2029591	1.00[CHD][hapmap];0.86[MKK][hapmap]
rs2131108	1.00[CHD][hapmap];0.86[MKK][hapmap]
rs2140270	1.00[CHD][hapmap];0.87[MKK][hapmap]
rs2312462	1.00[CHD][hapmap];0.84[MKK][hapmap]
rs2329021	1.00[CHD][hapmap];0.86[MKK][hapmap]
rs2329025	0.90[AFR][1000 genomes]
rs3448	0.87[MKK][hapmap]
rs34890793	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]
rs3866330	0.92[ASW][hapmap];1.00[CHB][hapmap];0.95[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs3870339	0.93[AFR][1000 genomes]
rs3870341	0.82[AFR][1000 genomes]
rs3905330	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs4241405	1.00[CHD][hapmap];0.86[MKK][hapmap]
rs4241407	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[MKK][hapmap]
rs4855833	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[MKK][hapmap];1.00[ASN][1000 genomes]
rs4855846	1.00[CHD][hapmap];0.86[MKK][hapmap]
rs4855858	0.93[AFR][1000 genomes]
rs4855869	0.84[AFR][1000 genomes]
rs4855882	1.00[CHD][hapmap]
rs4855885	1.00[CHD][hapmap]
rs4955430	1.00[CHD][hapmap]
rs57273516	0.86[AFR][1000 genomes]
rs6446285	1.00[CHD][hapmap]
rs6769744	0.83[AFR][1000 genomes]
rs6774202	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[MKK][hapmap]
rs6805609	1.00[CHD][hapmap]
rs7374731	0.87[AFR][1000 genomes]
rs7619789	0.84[AFR][1000 genomes]
rs7622786	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7625857	0.85[AFR][1000 genomes]
rs7644148	1.00[CHD][hapmap];0.84[MKK][hapmap]
rs8897	1.00[CHD][hapmap]
rs940045	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs974495	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9809237	0.94[AFR][1000 genomes]
rs9824435	1.00[CHD][hapmap]
rs9860055	1.00[CHD][hapmap];0.87[MKK][hapmap]
rs9862534	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[LWK][hapmap];0.90[MKK][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs9871024	1.00[CHD][hapmap];0.84[MKK][hapmap]
rs9883000	1.00[CHD][hapmap];0.86[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3461848	chr3:49517801-49518576	Strong transcription Weak transcription	n/a	n/a	inside rSNPs	diseases
3	esv3461849	chr3:49517866-49518537	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
4	esv3461851	chr3:49517872-49518540	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
5	esv3461853	chr3:49517872-49518540	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
6	esv3461850	chr3:49517885-49518544	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49509400-49520200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:49509600-49519000	Weak transcription	Primary B cells from cord blood	blood
3	chr3:49509600-49522800	Weak transcription	Brain Angular Gyrus	brain
4	chr3:49509600-49530800	Weak transcription	Brain Germinal Matrix	brain
5	chr3:49509600-49537800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:49509800-49520800	Weak transcription	Ovary	ovary
7	chr3:49509800-49522800	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:49509800-49522800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:49509800-49522800	Weak transcription	NHEK	skin
10	chr3:49509800-49523000	Weak transcription	Brain Substantia Nigra	brain
11	chr3:49509800-49531000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:49509800-49537600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr3:49509800-49547800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:49510000-49520000	Weak transcription	Colon Smooth Muscle	Colon
15	chr3:49510000-49520200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr3:49510000-49520800	Weak transcription	Right Atrium	heart
17	chr3:49510000-49521200	Weak transcription	HepG2	liver
18	chr3:49510000-49521400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:49510000-49522800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:49510000-49523200	Weak transcription	Fetal Kidney	kidney
21	chr3:49510000-49526800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr3:49510000-49535600	Weak transcription	NHLF	lung
23	chr3:49510000-49547800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:49511000-49518800	Weak transcription	K562	blood
25	chr3:49511400-49518600	Strong transcription	Fetal Intestine Small	intestine
26	chr3:49511400-49522800	Weak transcription	Stomach Mucosa	stomach
27	chr3:49511800-49518200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:49514000-49519400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr3:49514200-49522000	Weak transcription	NHDF-Ad	bronchial
30	chr3:49514400-49518800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:49514400-49518800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:49514400-49519200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr3:49514400-49520000	Strong transcription	Fetal Thymus	thymus
34	chr3:49514400-49521200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr3:49514400-49522000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:49514400-49522800	Weak transcription	Osteobl	bone
37	chr3:49514400-49532400	Weak transcription	GM12878-XiMat	blood
38	chr3:49514600-49521800	Weak transcription	HSMM	muscle
39	chr3:49514600-49548000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr3:49514800-49532400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:49515000-49519000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr3:49515000-49521800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:49515000-49532800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr3:49515000-49535400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr3:49515200-49520800	Weak transcription	Psoas Muscle	Psoas
46	chr3:49515200-49521200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr3:49515200-49521800	Weak transcription	HMEC	breast
48	chr3:49515200-49522800	Weak transcription	Adipose Nuclei	Adipose
49	chr3:49515200-49523000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr3:49515200-49524600	Weak transcription	Dnd41	blood

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