Variant report

Variant	rs2194177
Chromosome Location	chr5:75449995-75449996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1002541	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs10040232	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs10064352	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs10514062	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs12153396	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12653182	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12655684	0.89[CHB][hapmap]
rs12657109	0.94[ASN][1000 genomes]
rs12657276	0.84[CHD][hapmap]
rs12659872	1.00[JPT][hapmap]
rs13187212	0.88[ASN][1000 genomes]
rs1393224	0.88[CHB][hapmap]
rs1423106	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1423107	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17651269	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17673879	0.81[CHD][hapmap]
rs17673963	1.00[JPT][hapmap]
rs17674301	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs2055439	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs2358531	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs2878766	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs34101768	0.88[ASN][1000 genomes]
rs34951990	0.88[ASN][1000 genomes]
rs6453208	0.84[CHD][hapmap]
rs67657625	0.88[ASN][1000 genomes]
rs67940529	0.88[ASN][1000 genomes]
rs6868505	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs71630905	0.88[ASN][1000 genomes]
rs7711119	0.81[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1033350	chr5:75367809-75538460	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1034853	chr5:75382047-75534981	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv462212	chr5:75388834-75534570	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv598676	chr5:75388834-75534570	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv526084	chr5:75410511-75530494	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv2757119	chr5:75426863-75474780	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv2759351	chr5:75426863-75474780	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv34707	chr5:75429015-75450144	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1021722	chr5:75429015-75450547	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv34958	chr5:75429015-75474921	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv818353	chr5:75431439-75450127	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1018966	chr5:75431439-75450547	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv2763917	chr5:75431439-75450559	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv516875	chr5:75431439-75455251	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv598677	chr5:75431439-75455251	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1033837	chr5:75432737-75450547	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1021628	chr5:75435313-75450547	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv1015349	chr5:75439222-75450132	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75449800-75450600	Enhancers	H9 Cell Line	embryonic stem cell
2	chr5:75449800-75450600	Enhancers	HUES6 Cell Line	embryonic stem cell

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