Variant report

Variant	rs12504266
Chromosome Location	chr4:128926669-128926670
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	chr4:128926450..128928119-chr4:128982486..128984570,2	K562	blood:

Variant related genes	Relation type
ENSG00000138709	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10000960	0.96[CEU][hapmap]
rs10001048	0.87[CEU][hapmap]
rs1001503	0.87[CEU][hapmap]
rs10019554	0.87[CEU][hapmap]
rs10019840	0.87[CEU][hapmap]
rs10026899	0.96[CEU][hapmap]
rs10493147	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10518529	0.96[CEU][hapmap]
rs1064205	0.95[CEU][hapmap];0.89[YRI][hapmap]
rs10857126	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs10857128	0.96[CEU][hapmap]
rs10857129	0.96[CEU][hapmap]
rs11098940	0.87[CEU][hapmap]
rs11098947	0.88[CEU][hapmap]
rs11098950	0.91[CEU][hapmap]
rs11723915	0.87[CEU][hapmap]
rs11725843	0.86[EUR][1000 genomes]
rs11727049	0.87[CEU][hapmap]
rs11727305	0.95[CEU][hapmap]
rs11735635	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11735810	0.96[CEU][hapmap]
rs12503257	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12504825	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12505717	0.96[CEU][hapmap]
rs12506549	0.96[CEU][hapmap]
rs12509092	0.96[CEU][hapmap]
rs12510785	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12641548	0.96[CEU][hapmap]
rs12645577	0.96[CEU][hapmap]
rs12645636	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs13102049	0.96[CEU][hapmap]
rs13127610	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13135183	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13135526	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13138581	0.96[CEU][hapmap]
rs13139182	0.96[CEU][hapmap]
rs1545711	0.83[CEU][hapmap]
rs16997980	0.96[CEU][hapmap]
rs17012739	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1870422	0.87[CEU][hapmap]
rs1870686	0.95[CEU][hapmap]
rs1870687	0.96[CEU][hapmap]
rs1975878	0.91[CEU][hapmap]
rs1975879	0.91[CEU][hapmap]
rs1993722	0.96[CEU][hapmap]
rs2056470	0.83[CEU][hapmap]
rs2061570	0.96[CEU][hapmap]
rs2061571	0.96[CEU][hapmap]
rs2061572	0.82[CEU][hapmap]
rs2087446	0.88[EUR][1000 genomes]
rs2126112	0.87[CEU][hapmap]
rs2172813	0.95[CEU][hapmap]
rs2305957	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs2306054	0.95[CEU][hapmap];0.89[YRI][hapmap]
rs2306055	0.96[CEU][hapmap]
rs2391231	0.96[CEU][hapmap]
rs34625382	0.84[EUR][1000 genomes]
rs3733320	0.96[CEU][hapmap]
rs3811740	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3811741	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4383632	0.96[CEU][hapmap]
rs4385082	0.96[CEU][hapmap]
rs4484314	0.87[CEU][hapmap]
rs4493552	0.88[CEU][hapmap]
rs4833393	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4833395	0.96[CEU][hapmap]
rs4834223	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs4834224	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.85[EUR][1000 genomes]
rs4834225	0.92[CEU][hapmap]
rs4834226	0.96[CEU][hapmap];0.89[YRI][hapmap]
rs4834229	0.96[CEU][hapmap]
rs4834231	0.87[CEU][hapmap]
rs4834234	0.96[CEU][hapmap]
rs4975239	0.91[CEU][hapmap]
rs6534647	0.86[EUR][1000 genomes]
rs6534648	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs6534655	0.89[EUR][1000 genomes]
rs6534656	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534658	0.86[EUR][1000 genomes]
rs6534659	0.96[CEU][hapmap]
rs6534668	0.96[CEU][hapmap]
rs6534670	0.96[CEU][hapmap]
rs6811718	0.87[CEU][hapmap]
rs6815890	0.96[CEU][hapmap]
rs6818467	0.96[CEU][hapmap]
rs6829891	0.96[CEU][hapmap]
rs6839292	0.88[CEU][hapmap]
rs6839370	0.96[CEU][hapmap]
rs6846535	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6849546	0.95[CEU][hapmap]
rs6851796	0.96[CEU][hapmap]
rs6856312	0.96[CEU][hapmap]
rs7441217	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs748630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7661888	0.96[CEU][hapmap];0.89[YRI][hapmap]
rs7671131	0.83[CEU][hapmap]
rs7684368	0.88[CEU][hapmap]
rs7686130	0.87[CEU][hapmap]
rs7692740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9968459	0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs9993435	0.96[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv879923	chr4:128554404-129068179	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1801492	chr4:128566686-128934513	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers 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 target site	44 gene(s)	inside rSNPs	diseases
6	esv3431515	chr4:128657260-128932577	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv532740	chr4:128710011-129035335	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv1033701	chr4:128803159-129095018	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv1019193	chr4:128810527-128949320	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv1841203	chr4:128817558-129043809	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv1029890	chr4:128828468-129041302	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
13	esv1817670	chr4:128850073-129012181	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	esv1821180	chr4:128850073-129012181	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
15	nsv1018952	chr4:128850790-129082821	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
16	nsv595388	chr4:128853913-129084831	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
17	nsv1019555	chr4:128901614-129088903	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128887600-128933600	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:128887600-128933800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:128887600-128941400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:128887600-128981200	Weak transcription	Psoas Muscle	Psoas
5	chr4:128887800-128930400	Weak transcription	Osteobl	bone
6	chr4:128887800-128933800	Weak transcription	Gastric	stomach
7	chr4:128887800-128940200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:128887800-128941200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:128887800-128951200	Weak transcription	HUVEC	blood vessel
10	chr4:128888400-128941200	Weak transcription	NHDF-Ad	bronchial
11	chr4:128888400-128956000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr4:128888600-128933200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:128890200-128933600	Weak transcription	Aorta	Aorta
14	chr4:128890200-128939200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:128890200-128950600	Weak transcription	HepG2	liver
16	chr4:128890400-128958600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr4:128893600-128948200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:128893600-128954200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:128893600-128955800	Weak transcription	Right Ventricle	heart
20	chr4:128895800-128930200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:128895800-128938400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:128895800-128944600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr4:128895800-128953600	Weak transcription	Pancreas	Pancrea
24	chr4:128896800-128930000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:128896800-128951800	Weak transcription	HSMM	muscle
26	chr4:128900200-128943800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:128901400-128941400	Weak transcription	Small Intestine	intestine
28	chr4:128905000-128940400	Weak transcription	Brain Germinal Matrix	brain
29	chr4:128906400-128926800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:128906600-128940200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:128907200-128926800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:128908000-128940400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:128908200-128933400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:128908600-128933400	Weak transcription	Adipose Nuclei	Adipose
35	chr4:128910200-128926800	Weak transcription	Ovary	ovary
36	chr4:128911000-128933800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:128911200-128926800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:128912400-128933600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:128912600-128950400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:128914600-128933400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr4:128917400-128927600	Weak transcription	NHEK	skin
42	chr4:128917400-128933200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:128917400-128933200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:128917400-128959000	Weak transcription	K562	blood
45	chr4:128917800-128933400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:128917800-128940400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:128918200-128954600	Weak transcription	Brain Angular Gyrus	brain
48	chr4:128919000-128926800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr4:128919000-128933800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr4:128919000-128939600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links