Variant report

Variant	rs2635268
Chromosome Location	chr4:148861837-148861838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11934409	0.86[CHB][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap]
rs11937178	0.86[CHB][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs11939997	0.85[ASN][1000 genomes]
rs11941546	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs11942547	0.82[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs11946732	0.86[CHB][hapmap]
rs13434578	0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs13435747	0.85[ASN][1000 genomes]
rs17024143	0.85[ASN][1000 genomes]
rs187006	0.94[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.99[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2118033	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2118035	0.88[ASN][1000 genomes]
rs2164530	0.82[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2164531	0.81[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2358180	0.85[ASN][1000 genomes]
rs2358181	1.00[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2635256	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2635266	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2635267	0.82[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs4337713	0.85[ASN][1000 genomes]
rs4835469	0.81[CHB][hapmap]
rs55752555	0.89[ASN][1000 genomes]
rs67913037	0.85[ASN][1000 genomes]
rs72617450	0.90[ASN][1000 genomes]
rs7655265	0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7666206	0.85[ASN][1000 genomes]
rs7669783	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs7672161	0.82[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs975371	0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs975372	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1017904	chr4:148814133-148975348	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1024596	chr4:148830472-148886915	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148796800-148863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr4:148796800-148866000	Weak transcription	Thymus	Thymus
3	chr4:148797400-148879600	Weak transcription	Gastric	stomach
4	chr4:148825400-148865800	Weak transcription	Fetal Lung	lung
5	chr4:148826600-148888200	Weak transcription	Fetal Thymus	thymus
6	chr4:148829400-148864200	Weak transcription	Primary T cells from cord blood	blood
7	chr4:148833600-148877400	Weak transcription	Small Intestine	intestine
8	chr4:148835000-148867200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:148835000-148869000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:148836600-148867000	Weak transcription	HMEC	breast
11	chr4:148847400-148877200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:148849200-148875600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:148849600-148863800	Weak transcription	NHLF	lung
14	chr4:148849800-148863800	Weak transcription	GM12878-XiMat	blood
15	chr4:148849800-148863800	Weak transcription	Osteobl	bone
16	chr4:148850000-148863600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:148850000-148863800	Weak transcription	NHDF-Ad	bronchial
18	chr4:148850000-148876400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:148850200-148890800	Weak transcription	HUVEC	blood vessel
20	chr4:148850400-148863800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:148851400-148863800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:148853000-148863800	Weak transcription	NH-A	brain
23	chr4:148854800-148866800	Weak transcription	NHEK	skin
24	chr4:148855000-148863600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:148855200-148866000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr4:148855400-148868600	Weak transcription	Fetal Intestine Small	intestine
27	chr4:148855400-148884800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:148856400-148889000	Weak transcription	Placenta	Placenta
29	chr4:148856600-148863800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr4:148859000-148867000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:148859400-148898000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr4:148859800-148863600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr4:148859800-148878600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:148860000-148863800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:148860000-148864000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:148860400-148864000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr4:148860600-148862000	Enhancers	Fetal Heart	heart
38	chr4:148860600-148869400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:148860800-148862200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:148860800-148862400	Enhancers	Fetal Brain Male	brain
41	chr4:148860800-148862600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:148860800-148863800	Strong transcription	HSMM	muscle
43	chr4:148860800-148879200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr4:148861000-148862000	Enhancers	Brain Hippocampus Middle	brain
45	chr4:148861000-148862400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:148861000-148862800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:148861200-148862000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:148861200-148862000	Strong transcription	Adipose Nuclei	Adipose
49	chr4:148861200-148862000	Genic enhancers	Psoas Muscle	Psoas
50	chr4:148861200-148862200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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