Variant report

Variant	rs4832191
Chromosome Location	chr2:85971451-85971452
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	chr2:85970891..85973881-chr2:85976191..85979014,2	K562	blood:
2	chr2:85956902..85958870-chr2:85969528..85972246,2	K562	blood:

Variant related genes	Relation type
ENSG00000168874	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1111527	0.87[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11126998	0.86[CEU][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs13430978	0.80[ASN][1000 genomes]
rs1356621	0.86[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs1356622	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1356623	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1356624	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1465822	0.86[CEU][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs1465823	0.86[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1473275	0.93[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1568310	0.93[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs2118401	0.86[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2176625	0.87[EUR][1000 genomes]
rs2366816	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4832006	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4832007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832188	0.88[EUR][1000 genomes]
rs4832190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6727520	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6735639	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6735655	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs732155	0.87[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7557287	0.83[ASN][1000 genomes]
rs7567852	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85965000-85973400	Enhancers	Fetal Muscle Leg	muscle
2	chr2:85966800-85972200	Enhancers	Lung	lung
3	chr2:85967200-85972400	Enhancers	Stomach Mucosa	stomach
4	chr2:85968000-85971600	Enhancers	Pancreas	Pancrea
5	chr2:85968000-85971600	Enhancers	NHDF-Ad	bronchial
6	chr2:85968000-85972200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:85968000-85972200	Enhancers	NHLF	lung
8	chr2:85968000-85972600	Enhancers	Fetal Muscle Trunk	muscle
9	chr2:85968000-85974600	Enhancers	Left Ventricle	heart
10	chr2:85968200-85972400	Enhancers	HUVEC	blood vessel
11	chr2:85968200-85973200	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr2:85968200-85973800	Enhancers	Right Ventricle	heart
13	chr2:85968200-85974200	Enhancers	Right Atrium	heart
14	chr2:85968400-85971600	Enhancers	Spleen	Spleen
15	chr2:85968400-85973400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:85968600-85971600	Bivalent Enhancer	Fetal Intestine Small	intestine
17	chr2:85969000-85971600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:85969000-85972600	Enhancers	Fetal Stomach	stomach
19	chr2:85969200-85971600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:85969200-85972000	Enhancers	Brain Substantia Nigra	brain
21	chr2:85969200-85972800	Enhancers	Fetal Kidney	kidney
22	chr2:85969600-85972000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:85969600-85972000	Enhancers	HSMM	muscle
24	chr2:85969600-85972000	Enhancers	HSMMtube	muscle
25	chr2:85969600-85972000	Enhancers	Osteobl	bone
26	chr2:85969600-85972800	Enhancers	Liver	Liver
27	chr2:85969600-85973000	Enhancers	NH-A	brain
28	chr2:85969600-85973600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:85969600-85974200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:85969800-85971600	Enhancers	Gastric	stomach
31	chr2:85969800-85971600	Enhancers	Psoas Muscle	Psoas
32	chr2:85969800-85971600	Bivalent Enhancer	GM12878-XiMat	blood
33	chr2:85969800-85971800	Enhancers	Small Intestine	intestine
34	chr2:85969800-85972800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:85969800-85973000	Bivalent Enhancer	Fetal Intestine Large	intestine
36	chr2:85969800-85973800	Enhancers	Brain Angular Gyrus	brain
37	chr2:85969800-85973800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr2:85970000-85972200	Enhancers	Ovary	ovary
39	chr2:85970200-85971600	Enhancers	Aorta	Aorta
40	chr2:85970200-85972400	Bivalent Enhancer	Placenta	Placenta
41	chr2:85970200-85972600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:85970200-85973400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:85970400-85972000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:85970400-85972000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:85970400-85972000	Enhancers	Brain Anterior Caudate	brain
46	chr2:85970400-85972000	Enhancers	Brain Hippocampus Middle	brain
47	chr2:85970400-85972000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:85970400-85972200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:85970400-85972400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:85970400-85972400	Enhancers	Adipose Nuclei	Adipose

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