Variant report

Variant	rs7431827
Chromosome Location	chr3:99791550-99791551
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:99789802..99792121-chr3:99804695..99807400,2	K562	blood:
2	chr3:99790868..99792575-chr3:99794274..99797056,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12107408	0.88[YRI][hapmap]
rs12486901	0.82[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs12487143	0.85[CEU][hapmap]
rs12489030	0.82[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs12494994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12496041	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1387649	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1565341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3921767	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs4928233	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4928236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4928240	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6414382	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6440991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6777622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6792339	0.82[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs6800456	0.88[JPT][hapmap]
rs73859922	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7610759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7632345	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs7634628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7641782	0.92[CEU][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7652706	0.92[CEU][hapmap];0.88[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9824430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9827744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9872339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv869848	chr3:99652246-99904276	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv932634	chr3:99660690-99888854	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1010579	chr3:99660754-99901817	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1008483	chr3:99660754-99903769	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1010897	chr3:99660754-99904783	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1001529	chr3:99661758-99892654	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
9	nsv536665	chr3:99661758-99892654	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	nsv591148	chr3:99774720-99905803	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99767600-99801000	Weak transcription	HSMM	muscle
2	chr3:99774000-99794800	Weak transcription	Stomach Mucosa	stomach
3	chr3:99783200-99792400	Weak transcription	Psoas Muscle	Psoas
4	chr3:99783200-99793600	Weak transcription	Aorta	Aorta
5	chr3:99783600-99792200	Weak transcription	Fetal Lung	lung
6	chr3:99784200-99792400	Weak transcription	Fetal Stomach	stomach
7	chr3:99787000-99792200	Weak transcription	Fetal Intestine Small	intestine
8	chr3:99787600-99795200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr3:99787800-99792200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr3:99787800-99792600	Enhancers	Osteobl	bone
11	chr3:99788000-99792200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr3:99788000-99792800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:99788200-99791600	Weak transcription	Fetal Intestine Large	intestine
14	chr3:99788200-99791800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:99788200-99792000	Weak transcription	Fetal Thymus	thymus
16	chr3:99788200-99792200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:99788200-99792600	Weak transcription	Thymus	Thymus
18	chr3:99788400-99791600	Weak transcription	NHDF-Ad	bronchial
19	chr3:99788400-99792600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr3:99788400-99792600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:99788400-99792600	Weak transcription	Right Atrium	heart
22	chr3:99788600-99792200	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:99788600-99792400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:99788600-99792600	Weak transcription	Brain Substantia Nigra	brain
25	chr3:99789000-99792400	Weak transcription	HUVEC	blood vessel
26	chr3:99789200-99792400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr3:99789400-99792600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:99789400-99793200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr3:99790000-99792200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr3:99790000-99792800	Enhancers	K562	blood
31	chr3:99790200-99791600	Enhancers	Duodenum Mucosa	Duodenum
32	chr3:99790200-99792200	Weak transcription	NH-A	brain
33	chr3:99790200-99792400	Enhancers	Primary B cells from cord blood	blood
34	chr3:99790200-99793400	Enhancers	Primary B cells from peripheral blood	blood
35	chr3:99790400-99792200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:99790400-99792200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:99790400-99792400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:99790400-99792400	Enhancers	Small Intestine	intestine
39	chr3:99790400-99793000	Weak transcription	Esophagus	oesophagus
40	chr3:99790400-99793000	Weak transcription	Left Ventricle	heart
41	chr3:99790400-99793200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr3:99790600-99791600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:99790600-99791600	Enhancers	Fetal Muscle Leg	muscle
44	chr3:99790600-99792200	Enhancers	Adipose Nuclei	Adipose
45	chr3:99790600-99792400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr3:99790600-99792400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:99790600-99793200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr3:99790600-99793400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr3:99790800-99792200	Enhancers	Primary T cells from cord blood	blood
50	chr3:99790800-99792600	Enhancers	Primary hematopoietic stem cells	blood

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