Variant report

Variant	rs4337680
Chromosome Location	chr3:178684081-178684082
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:178683297..178685774-chr3:178688722..178691285,2	K562	blood:
2	chr3:178151977..178152917-chr3:178683893..178684956,4	MCF-7	breast:
3	chr3:178151944..178152650-chr3:178683969..178684905,3	MCF-7	breast:
4	chr3:178154305..178154928-chr3:178683797..178684596,2	MCF-7	breast:
5	chr3:178153839..178154942-chr3:178683727..178684638,3	MCF-7	breast:
6	chr3:178682903..178685774-chr3:178687578..178691285,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11711320	0.94[EUR][1000 genomes]
rs11720081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13092881	0.87[ASN][1000 genomes]
rs4245914	0.94[EUR][1000 genomes]
rs4279147	0.94[EUR][1000 genomes]
rs4280676	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4315724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4377525	0.93[EUR][1000 genomes]
rs4395442	0.94[EUR][1000 genomes]
rs4417911	0.94[EUR][1000 genomes]
rs4469018	0.91[EUR][1000 genomes]
rs4501160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4505756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4522816	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4525914	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4552405	0.94[EUR][1000 genomes]
rs4579062	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs4607155	0.87[EUR][1000 genomes]
rs4626139	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4632588	0.81[EUR][1000 genomes]
rs4637331	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs4955796	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4955802	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4955807	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs4955810	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs56115013	0.94[EUR][1000 genomes]
rs56154408	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6443607	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6443614	0.94[EUR][1000 genomes]
rs6443617	0.80[EUR][1000 genomes]
rs6772028	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs6789706	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6790867	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs6793769	0.94[EUR][1000 genomes]
rs6793893	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs6794956	0.87[EUR][1000 genomes]
rs6795238	0.87[EUR][1000 genomes]
rs6800015	0.89[CEU][hapmap]
rs6804084	0.95[CEU][hapmap]
rs7429173	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7612363	0.94[EUR][1000 genomes]
rs7633318	0.94[CEU][hapmap]
rs7639391	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs7643052	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7651510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7652668	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7652946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9846511	0.94[EUR][1000 genomes]
rs9860318	0.91[EUR][1000 genomes]
rs9860749	0.91[EUR][1000 genomes]
rs9879637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9880749	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1010148	chr3:178650949-178691377	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv461026	chr3:178661814-178886609	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv592649	chr3:178661814-178886609	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178669400-178685000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:178678200-178684600	Weak transcription	Psoas Muscle	Psoas
3	chr3:178678600-178684200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:178678600-178684600	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:178678800-178684400	Weak transcription	Brain Anterior Caudate	brain
6	chr3:178679400-178684200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:178679800-178684600	Weak transcription	HSMMtube	muscle
8	chr3:178680000-178684200	Weak transcription	Fetal Lung	lung
9	chr3:178680000-178684600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:178680000-178684600	Weak transcription	Fetal Stomach	stomach
11	chr3:178680200-178684600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:178680200-178684600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr3:178682000-178686200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:178682800-178684600	Weak transcription	HSMM	muscle
15	chr3:178683200-178684200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:178683200-178684800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:178683200-178687800	Enhancers	Primary B cells from peripheral blood	blood
18	chr3:178683400-178684200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr3:178683600-178684200	Enhancers	GM12878-XiMat	blood
20	chr3:178683600-178684400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:178683600-178684600	Enhancers	Primary B cells from cord blood	blood
22	chr3:178683600-178691200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:178684000-178684200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:178684000-178684200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr3:178684000-178684200	Enhancers	HUVEC	blood vessel
26	chr3:178684000-178684600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:178684000-178685000	Enhancers	Colon Smooth Muscle	Colon
28	chr3:178684000-178685000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr3:178684000-178685200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr3:178684000-178685400	Enhancers	Primary T cells from cord blood	blood
31	chr3:178684000-178685600	Enhancers	Dnd41	blood

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