Variant report

Variant	rs7573688
Chromosome Location	chr2:46713478-46713479
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46693283..46695227-chr2:46712341..46714395,2	K562	blood:
2	chr2:46712457..46718126-chr2:46724421..46727428,6	K562	blood:

Variant related genes	Relation type
ENSG00000253515	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11125078	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11125081	0.88[GIH][hapmap]
rs12470939	0.88[EUR][1000 genomes]
rs12471274	0.86[EUR][1000 genomes]
rs12473673	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12474961	0.82[CHB][hapmap];0.82[YRI][hapmap];0.86[EUR][1000 genomes]
rs12474965	0.91[EUR][1000 genomes]
rs12475015	0.84[AMR][1000 genomes]
rs12612916	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12613088	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12617193	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12619386	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12619696	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];1.00[MEX][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12619754	0.88[EUR][1000 genomes]
rs12621486	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12622818	0.87[CHB][hapmap];0.81[CHD][hapmap];0.93[MEX][hapmap];0.84[MKK][hapmap];0.91[EUR][1000 genomes]
rs1530623	0.87[CHB][hapmap];0.87[MEX][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes]
rs1551123	1.00[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1562454	1.00[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17035200	0.86[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.81[MEX][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1868095	0.83[EUR][1000 genomes]
rs1868845	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2053766	0.88[EUR][1000 genomes]
rs2121699	0.83[CHB][hapmap];0.83[EUR][1000 genomes]
rs2166746	0.87[CHB][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes]
rs2276555	0.87[CHB][hapmap];0.82[CHD][hapmap];0.80[ASN][1000 genomes]
rs2276556	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2881326	0.85[EUR][1000 genomes]
rs34405528	0.80[EUR][1000 genomes]
rs35589072	0.80[EUR][1000 genomes]
rs4145835	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4952825	1.00[ASW][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.89[MKK][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4952826	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.80[JPT][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4952827	1.00[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4953364	0.93[MEX][hapmap];0.86[EUR][1000 genomes]
rs4953370	0.88[EUR][1000 genomes]
rs4953376	0.82[CHB][hapmap];0.90[LWK][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];0.91[YRI][hapmap];0.88[EUR][1000 genomes]
rs4953395	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55871716	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56894248	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57996107	0.86[EUR][1000 genomes]
rs58402726	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58725320	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59013670	0.91[EUR][1000 genomes]
rs59761895	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59856996	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60685999	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61193538	0.86[EUR][1000 genomes]
rs66533451	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6714240	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6723195	0.91[EUR][1000 genomes]
rs6746695	1.00[CEU][hapmap]
rs67739992	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67960524	0.89[EUR][1000 genomes]
rs68030749	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72618620	0.85[EUR][1000 genomes]
rs72618621	0.85[EUR][1000 genomes]
rs72618622	0.88[EUR][1000 genomes]
rs72618623	0.88[EUR][1000 genomes]
rs72618624	0.88[EUR][1000 genomes]
rs72618625	0.88[EUR][1000 genomes]
rs72618626	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72618627	0.88[EUR][1000 genomes]
rs72618628	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72618629	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72618631	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72618632	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72873772	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7574467	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7595513	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.94[MEX][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9710956	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv437435	chr2:46636967-46763587	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv9702	chr2:46668106-46745740	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv817828	chr2:46670146-46739157	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv519216	chr2:46683683-46723219	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv581746	chr2:46699145-46719922	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv581747	chr2:46709571-46718989	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv457341	chr2:46712759-46724016	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv581748	chr2:46712759-46724016	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46689200-46714800	Weak transcription	Right Atrium	heart
2	chr2:46700200-46714800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:46705000-46716600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:46708400-46714800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:46708400-46714800	Weak transcription	Lung	lung
6	chr2:46709200-46714600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:46709200-46714800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:46709400-46714600	Weak transcription	NHDF-Ad	bronchial
9	chr2:46709600-46714600	Weak transcription	HUVEC	blood vessel
10	chr2:46709600-46714600	Weak transcription	Osteobl	bone
11	chr2:46709600-46715000	Weak transcription	A549	lung
12	chr2:46710000-46713600	Weak transcription	Hela-S3	cervix
13	chr2:46710000-46714600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:46710000-46714600	Weak transcription	NHLF	lung
15	chr2:46710800-46714800	Weak transcription	Right Ventricle	heart
16	chr2:46712000-46714000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:46712600-46714600	Weak transcription	Left Ventricle	heart
18	chr2:46713000-46714400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:46713000-46714600	Weak transcription	Psoas Muscle	Psoas
20	chr2:46713200-46714600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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