Variant report

Variant	rs699844
Chromosome Location	chr1:74878253-74878254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1022915	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs10890127	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs10890128	0.92[CHB][hapmap]
rs11210458	0.92[CHB][hapmap];0.84[JPT][hapmap]
rs11210463	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs12048736	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1325605	0.92[CHB][hapmap]
rs1325606	0.92[CHB][hapmap];0.83[CHD][hapmap]
rs1341573	0.92[CHB][hapmap];0.81[CHD][hapmap]
rs1527684	0.92[CHB][hapmap];0.81[CHD][hapmap]
rs17095265	1.00[MEX][hapmap]
rs17095295	1.00[MEX][hapmap]
rs17095322	1.00[MEX][hapmap];0.84[EUR][1000 genomes]
rs2203369	0.92[CHB][hapmap];0.84[CHD][hapmap]
rs274575	0.88[EUR][1000 genomes]
rs274581	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs274596	0.83[EUR][1000 genomes]
rs274599	0.85[EUR][1000 genomes]
rs3765670	0.92[CHB][hapmap];0.84[CHD][hapmap]
rs4650265	0.88[EUR][1000 genomes]
rs6665693	0.92[CHB][hapmap]
rs6693806	0.84[CHB][hapmap]
rs7515072	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs7517677	1.00[MEX][hapmap]
rs925643	0.92[CHB][hapmap];0.81[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522147	chr1:74338530-74983835	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1003171	chr1:74407468-75122270	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv535000	chr1:74407468-75122270	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats 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
4	nsv1011308	chr1:74545016-74932777	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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	nsv1007414	chr1:74726454-74976335	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv535002	chr1:74726454-74976335	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1010042	chr1:74798856-75001977	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1002903	chr1:74831209-74993866	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv1831804	chr1:74856263-74879770	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74876600-74881600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:74877800-74878400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:74877800-74878400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:74877800-74878400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:74877800-74878600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:74878000-74878400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:74878000-74878400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:74878000-74878600	Enhancers	Left Ventricle	heart
9	chr1:74878200-74879400	Weak transcription	Fetal Heart	heart

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