Variant report

Variant	rs2200946
Chromosome Location	chr3:21723618-21723619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:21721634..21724337-chr3:21728946..21730736,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12152385	1.00[YRI][hapmap]
rs17009275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17009299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2035749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2200945	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55689118	0.87[ASN][1000 genomes]
rs55905392	0.87[ASN][1000 genomes]
rs73138867	0.95[ASN][1000 genomes]
rs7610132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9816269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010460	chr3:21516810-21839871	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834631	chr3:21612283-21763887	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1007048	chr3:21666807-21865229	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv536516	chr3:21666807-21865229	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv527771	chr3:21716235-21726363	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3461577	chr3:21721448-21727746	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv589901	chr3:21721486-21725619	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv589902	chr3:21721486-21725749	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv589903	chr3:21721486-21725811	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv589904	chr3:21721486-21725926	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv589905	chr3:21722700-21725405	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv589906	chr3:21722700-21725619	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv589907	chr3:21722700-21725749	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv589908	chr3:21722700-21725811	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv589909	chr3:21722700-21725926	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv3518739	chr3:21722973-21727021	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3461581	chr3:21723261-21726242	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv5738	chr3:21723576-21726215	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3461578	chr3:21723578-21726068	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv3518743	chr3:21723606-21726078	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21710000-21724400	Weak transcription	Left Ventricle	heart
2	chr3:21715000-21728600	Weak transcription	Psoas Muscle	Psoas
3	chr3:21720400-21727000	Weak transcription	Aorta	Aorta
4	chr3:21720600-21724000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:21720600-21725000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:21721200-21725200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:21721600-21727600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr3:21722400-21724800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:21722600-21725200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:21723400-21724000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:21723400-21724000	Enhancers	NHDF-Ad	bronchial
12	chr3:21723400-21724400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:21723400-21724600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:21723400-21725800	Enhancers	Fetal Stomach	stomach
15	chr3:21723600-21723800	Enhancers	Fetal Kidney	kidney
16	chr3:21723600-21724600	Enhancers	HMEC	breast

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