Variant report

Variant	rs2670623
Chromosome Location	chr4:89973910-89973911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:89962640..89965457-chr4:89973321..89975706,2	K562	blood:
2	chr4:89970076..89973919-chr4:89975021..89978811,7	K562	blood:
3	chr4:89963957..89965462-chr4:89973010..89975706,2	K562	blood:

Variant related genes	Relation type
ENSG00000138640	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10033484	0.83[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs11097208	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11737182	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs12512799	0.80[ASN][1000 genomes]
rs12640018	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13138280	0.83[JPT][hapmap]
rs13148188	0.84[ASN][1000 genomes]
rs1398940	0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1458557	0.89[JPT][hapmap]
rs16996143	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs17015027	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17015052	0.84[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1708668	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1708669	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1708670	0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs1708681	0.93[ASN][1000 genomes]
rs1795722	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1795727	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1795729	0.90[ASN][1000 genomes]
rs1795734	0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1795738	0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1849597	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1903007	0.84[JPT][hapmap]
rs1921679	0.89[JPT][hapmap]
rs1921683	0.80[ASN][1000 genomes]
rs1921684	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1961979	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2018779	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2085601	0.84[JPT][hapmap]
rs2090031	0.88[ASN][1000 genomes]
rs2178583	0.89[JPT][hapmap]
rs2178584	0.89[JPT][hapmap]
rs2178585	0.83[JPT][hapmap]
rs2464514	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2609275	0.84[JPT][hapmap]
rs2704571	0.95[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs2704573	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs2704577	0.84[JPT][hapmap]
rs28600923	0.94[ASN][1000 genomes]
rs2869971	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2869972	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2869973	0.80[ASN][1000 genomes]
rs28712360	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2904261	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35441198	0.81[ASN][1000 genomes]
rs4285052	0.86[ASN][1000 genomes]
rs4450885	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4507326	0.94[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs4642211	0.83[JPT][hapmap]
rs4693981	0.83[ASN][1000 genomes]
rs60618725	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62306363	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62306364	0.86[ASN][1000 genomes]
rs62306390	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62306391	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6819725	0.81[ASN][1000 genomes]
rs6821678	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs6827857	0.81[ASN][1000 genomes]
rs6834787	0.81[ASN][1000 genomes]
rs6844655	0.89[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs6852373	0.81[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6853480	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs72877642	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7656238	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7659904	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7660314	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7680864	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7686954	0.83[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs7697075	0.84[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs7697900	0.83[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs7697921	0.80[ASN][1000 genomes]
rs9307054	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs9307055	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs9307060	0.81[ASN][1000 genomes]
rs9307061	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9991237	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv461577	chr4:89904124-89986326	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv594807	chr4:89904124-89986326	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89937200-89975600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:89944200-89978000	Weak transcription	Pancreas	Pancrea
3	chr4:89958200-89974400	Weak transcription	Aorta	Aorta
4	chr4:89959000-89975400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:89959200-89974400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:89963200-89975800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:89970600-89975200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:89971000-89974000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:89971200-89974400	Weak transcription	HUVEC	blood vessel
10	chr4:89971600-89974400	Weak transcription	K562	blood
11	chr4:89972600-89975400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:89972600-89975400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:89973000-89974400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:89973000-89975800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:89973200-89974200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:89973200-89974200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:89973200-89975000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:89973200-89975600	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:89973200-89977000	Weak transcription	Psoas Muscle	Psoas
20	chr4:89973400-89974000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:89973400-89974600	Weak transcription	Ovary	ovary
22	chr4:89973400-89975200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:89973400-89976400	Weak transcription	Fetal Intestine Small	intestine
24	chr4:89973400-89976800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:89973400-89977800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:89973400-89977800	Weak transcription	Right Ventricle	heart
27	chr4:89973600-89974000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr4:89973600-89975600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:89973600-89977800	Weak transcription	Placenta	Placenta

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