Variant report

Variant	rs11774690
Chromosome Location	chr8:131190498-131190499
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	chr8:131182729..131185672-chr8:131189241..131191289,2	K562	blood:
2	chr8:131190104..131192008-chr8:131192113..131194046,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10091313	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs1017281	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs10956511	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10956514	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1118887	0.86[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs1123205	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11774633	0.80[ASN][1000 genomes]
rs11774659	0.81[ASN][1000 genomes]
rs11774947	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11775292	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12546206	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12548888	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12549794	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13258946	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs13269464	0.80[CHB][hapmap]
rs13269735	0.80[ASN][1000 genomes]
rs1340021	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs1469288	0.86[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs1538728	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16904191	0.87[JPT][hapmap]
rs17212137	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17282526	0.80[CHB][hapmap];0.81[ASN][1000 genomes]
rs17284725	0.81[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs1978550	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2005030	0.82[JPT][hapmap]
rs2033059	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2085066	0.82[JPT][hapmap]
rs2114196	0.86[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2123870	0.81[CHB][hapmap]
rs2185366	0.80[CHB][hapmap]
rs2554373	0.80[CHB][hapmap]
rs2894508	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3935174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4733568	0.81[CHB][hapmap]
rs4733571	0.84[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs4733572	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4733768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4733770	0.97[ASN][1000 genomes]
rs4733775	0.84[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4733776	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4733777	0.82[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes]
rs4733780	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4733781	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs62524640	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62524650	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62525923	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6470800	0.80[CHB][hapmap]
rs6470802	0.80[CHB][hapmap]
rs6470805	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6470815	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs6988261	0.84[ASN][1000 genomes]
rs6992305	0.81[CHB][hapmap]
rs7012705	0.89[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7015970	0.81[CHB][hapmap]
rs7018225	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs72722365	0.85[ASN][1000 genomes]
rs7386417	0.80[CHB][hapmap]
rs7460645	0.80[CHB][hapmap]
rs7464885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs747498	0.81[JPT][hapmap]
rs747499	0.82[JPT][hapmap]
rs750677	0.82[JPT][hapmap]
rs7832651	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7833007	0.81[CHB][hapmap]
rs7839155	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs874617	0.81[JPT][hapmap]
rs876575	0.86[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs9643252	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs966185	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:131146600-131206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:131147400-131194400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr8:131147600-131199800	Weak transcription	Pancreas	Pancrea
5	chr8:131148000-131194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:131152800-131193600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:131155200-131206800	Weak transcription	Psoas Muscle	Psoas
8	chr8:131156200-131194800	Weak transcription	Fetal Kidney	kidney
9	chr8:131156600-131194200	Weak transcription	GM12878-XiMat	blood
10	chr8:131159400-131194000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:131163000-131198400	Weak transcription	Fetal Heart	heart
12	chr8:131164400-131196600	Weak transcription	Brain Substantia Nigra	brain
13	chr8:131165400-131194200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr8:131166200-131193400	Strong transcription	Primary T cells from cord blood	blood
15	chr8:131166200-131194000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr8:131169600-131194400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:131171000-131208600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:131172200-131198800	Weak transcription	Small Intestine	intestine
19	chr8:131172200-131211600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:131172600-131199800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:131172600-131206800	Weak transcription	Esophagus	oesophagus
22	chr8:131172800-131210800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:131173000-131198600	Weak transcription	Brain Angular Gyrus	brain
24	chr8:131173600-131206600	Weak transcription	Dnd41	blood
25	chr8:131174600-131192800	Weak transcription	HepG2	liver
26	chr8:131174600-131198800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:131175400-131206000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:131177600-131191600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:131177800-131191200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:131177800-131192000	Strong transcription	Osteobl	bone
31	chr8:131179000-131194600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr8:131179000-131198800	Weak transcription	Fetal Lung	lung
33	chr8:131179000-131208600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:131179200-131194600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:131179200-131208600	Weak transcription	Fetal Brain Female	brain
36	chr8:131179400-131191400	Weak transcription	Brain Anterior Caudate	brain
37	chr8:131179400-131193800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr8:131179400-131197200	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:131179400-131199800	Weak transcription	Lung	lung
40	chr8:131179600-131192600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:131179600-131194800	Weak transcription	Colon Smooth Muscle	Colon
42	chr8:131179600-131198800	Weak transcription	Fetal Intestine Small	intestine
43	chr8:131179600-131199800	Weak transcription	Spleen	Spleen
44	chr8:131179600-131218400	Weak transcription	Thymus	Thymus
45	chr8:131179800-131190800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr8:131179800-131191200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr8:131179800-131194400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:131179800-131194600	Weak transcription	Primary B cells from cord blood	blood
49	chr8:131179800-131194600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:131179800-131198200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links