Variant report

Variant	rs9992387
Chromosome Location	chr4:151283874-151283875
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10007294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10021676	0.90[EUR][1000 genomes]
rs10021938	1.00[EUR][1000 genomes]
rs10022107	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10471055	0.90[EUR][1000 genomes]
rs12499251	0.87[EUR][1000 genomes]
rs12499400	0.87[EUR][1000 genomes]
rs12501888	1.00[GIH][hapmap]
rs12503255	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12511109	0.90[EUR][1000 genomes]
rs12512965	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12513356	1.00[GIH][hapmap]
rs13434795	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1504782	1.00[CEU][hapmap];0.87[CHB][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs17632340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28373995	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28416574	0.84[ASN][1000 genomes]
rs28446645	0.90[EUR][1000 genomes]
rs28456277	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28460294	0.90[EUR][1000 genomes]
rs28490505	0.86[EUR][1000 genomes]
rs28573941	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28587623	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28623363	0.87[EUR][1000 genomes]
rs28680477	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57925391	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61520262	0.90[EUR][1000 genomes]
rs6848342	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72953804	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72955819	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7664323	0.90[EUR][1000 genomes]
rs7692551	1.00[GIH][hapmap]
rs9307872	0.87[EUR][1000 genomes]
rs9307873	0.87[EUR][1000 genomes]
rs9307875	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv880259	chr4:151210761-151367745	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv880260	chr4:151214038-151331191	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv830112	chr4:151243801-151431771	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151243000-151312000	Weak transcription	Primary B cells from cord blood	blood
2	chr4:151244200-151300600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:151247800-151285200	Weak transcription	GM12878-XiMat	blood
4	chr4:151262400-151311200	Weak transcription	Primary T cells from cord blood	blood
5	chr4:151268800-151293800	Weak transcription	Fetal Intestine Small	intestine
6	chr4:151269800-151300600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:151270400-151285200	Weak transcription	Aorta	Aorta
8	chr4:151272000-151293800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:151272000-151298600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:151272000-151371400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:151272400-151294000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:151275400-151287600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:151277800-151287000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:151278600-151285400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:151279200-151298000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:151279400-151287800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:151280600-151287600	Weak transcription	Fetal Stomach	stomach
18	chr4:151280600-151289200	Weak transcription	Fetal Lung	lung
19	chr4:151282000-151287800	Weak transcription	Ovary	ovary
20	chr4:151282200-151287400	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:151282400-151287400	Weak transcription	Fetal Heart	heart

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