Variant report

Variant	rs17047813
Chromosome Location	chr2:56562110-56562111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10183245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10460555	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10460559	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11125623	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11125624	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11677428	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11677608	0.83[EUR][1000 genomes]
rs11679038	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11683066	0.95[CHB][hapmap]
rs11690074	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11902889	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12053439	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13382999	0.87[EUR][1000 genomes]
rs13386846	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13390229	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13400915	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13403867	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes]
rs13404434	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13410910	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes]
rs13416084	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13416192	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13417930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13427576	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1549029	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs17047815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17047819	0.83[EUR][1000 genomes]
rs17047821	0.83[EUR][1000 genomes]
rs1990758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2032698	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2111473	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2193480	0.83[EUR][1000 genomes]
rs2216330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2216331	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56832643	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58363543	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59132151	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62164360	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62164361	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62164363	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62164364	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62167332	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62167333	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62167337	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62167338	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6545565	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6751240	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6754471	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6760801	0.83[EUR][1000 genomes]
rs72916125	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72916129	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73940663	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73940664	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73940665	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7561764	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[EUR][1000 genomes]
rs7591011	0.92[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes]
rs7602941	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7606693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9309275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9309276	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs9309277	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9808063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv874170	chr2:56496589-56590865	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv834093	chr2:56538097-56708677	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1004449	chr2:56538460-56715861	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv874171	chr2:56545845-56727178	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv582032	chr2:56551074-56599354	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56560200-56563200	Enhancers	Adipose Nuclei	Adipose
2	chr2:56560400-56562200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:56560400-56562400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:56560600-56562400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:56560600-56575400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:56560800-56562200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:56560800-56562800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:56560800-56563400	Weak transcription	Left Ventricle	heart
9	chr2:56561000-56562600	Enhancers	HSMMtube	muscle
10	chr2:56561000-56562800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:56561000-56564000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:56561200-56562600	Enhancers	Colon Smooth Muscle	Colon
13	chr2:56561200-56564400	Weak transcription	HSMM	muscle
14	chr2:56561600-56562400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:56561600-56562600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:56561800-56562600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:56561800-56563800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:56562000-56562200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr2:56562000-56564400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:56562000-56566000	Weak transcription	Fetal Heart	heart
21	chr2:56562000-56566200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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