Variant report

Variant	rs12546206
Chromosome Location	chr8:131167048-131167049
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	chr8:131166087..131168835-chr8:131177427..131180204,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1008819	0.80[YRI][hapmap]
rs10091313	0.80[CHB][hapmap];0.81[ASN][1000 genomes]
rs10113410	0.92[CHD][hapmap]
rs1017281	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs10956511	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10956514	0.86[CHB][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.86[TSI][hapmap]
rs1118887	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1123205	0.92[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap]
rs1158570	0.81[CHD][hapmap]
rs11774690	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11774947	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.84[ASN][1000 genomes]
rs11775292	0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12548888	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12549794	0.84[EUR][1000 genomes]
rs13253189	0.86[LWK][hapmap];0.89[YRI][hapmap]
rs13256967	0.94[YRI][hapmap]
rs13258946	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs13269464	0.80[CHB][hapmap];0.81[CHD][hapmap]
rs1340020	0.95[YRI][hapmap]
rs1340021	0.85[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap]
rs1340022	0.87[CHD][hapmap]
rs1469288	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1538728	0.85[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap]
rs16904191	0.82[JPT][hapmap]
rs17212137	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17282526	0.80[CHB][hapmap]
rs17284725	0.84[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs1978550	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.86[ASN][1000 genomes]
rs1978551	1.00[YRI][hapmap]
rs2033059	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2045092	0.86[CHD][hapmap]
rs2114196	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2123870	0.80[CHB][hapmap]
rs2554369	0.81[CHD][hapmap]
rs2554373	0.80[CHB][hapmap];0.84[CHD][hapmap]
rs2791349	0.90[LWK][hapmap]
rs2894508	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3935174	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs4733568	0.80[CHB][hapmap]
rs4733571	0.84[CEU][hapmap];0.86[CHB][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs4733572	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.80[ASN][1000 genomes]
rs4733768	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4733770	0.97[ASN][1000 genomes]
rs4733775	0.84[CEU][hapmap];0.81[CHB][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs4733776	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4733777	0.84[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs4733780	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.84[ASN][1000 genomes]
rs4733781	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs62524640	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62524650	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62525923	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6470800	0.80[CHB][hapmap];0.83[CHD][hapmap]
rs6470802	0.80[CHB][hapmap];0.81[CHD][hapmap]
rs6470805	0.95[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs6470815	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6988261	0.81[ASN][1000 genomes]
rs6992305	0.80[CHB][hapmap]
rs7002892	0.86[CHD][hapmap]
rs7004884	0.81[CHD][hapmap]
rs7012705	0.92[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7015970	0.80[CHB][hapmap]
rs7018225	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap]
rs7018391	0.89[YRI][hapmap]
rs72722365	0.81[ASN][1000 genomes]
rs7386417	0.80[CHB][hapmap];0.92[CHD][hapmap]
rs7460645	0.80[CHB][hapmap];0.89[CHD][hapmap]
rs7464885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7832651	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7833007	0.80[CHB][hapmap]
rs7839155	0.84[CEU][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap];0.89[TSI][hapmap]
rs7846376	0.81[CHD][hapmap]
rs876575	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs9643252	0.81[CHB][hapmap]
rs966185	0.80[CHB][hapmap];0.86[CHD][hapmap]
rs9942745	0.89[YRI][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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:131128800-131186800	Weak transcription	Fetal Brain Male	brain
4	chr8:131130400-131180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:131140000-131169200	Weak transcription	Brain Angular Gyrus	brain
6	chr8:131146600-131178800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:131146600-131206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:131147400-131194400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:131147600-131170400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:131147600-131199800	Weak transcription	Pancreas	Pancrea
11	chr8:131148000-131183800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:131148000-131194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:131148400-131169800	Weak transcription	K562	blood
14	chr8:131148600-131169800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:131148600-131170200	Weak transcription	Fetal Intestine Small	intestine
16	chr8:131149000-131168000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:131149000-131170600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:131149000-131178400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:131149200-131168600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:131149200-131172200	Weak transcription	HepG2	liver
21	chr8:131149200-131178600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:131149200-131184400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:131149400-131169200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:131149400-131169600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:131149600-131169400	Weak transcription	Thymus	Thymus
26	chr8:131150200-131168600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:131150800-131169600	Weak transcription	Brain Germinal Matrix	brain
28	chr8:131152000-131181000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:131152200-131182200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:131152800-131193600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:131155000-131168600	Weak transcription	Esophagus	oesophagus
32	chr8:131155200-131167600	Weak transcription	Gastric	stomach
33	chr8:131155200-131169600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:131155200-131169800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:131155200-131206800	Weak transcription	Psoas Muscle	Psoas
36	chr8:131155400-131167600	Weak transcription	Left Ventricle	heart
37	chr8:131155600-131177600	Strong transcription	A549	lung
38	chr8:131156200-131194800	Weak transcription	Fetal Kidney	kidney
39	chr8:131156600-131194200	Weak transcription	GM12878-XiMat	blood
40	chr8:131157600-131180800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr8:131157800-131176200	Strong transcription	Placenta	Placenta
42	chr8:131158000-131178600	Weak transcription	Hela-S3	cervix
43	chr8:131158200-131176000	Strong transcription	Fetal Muscle Leg	muscle
44	chr8:131159000-131170800	Strong transcription	HUVEC	blood vessel
45	chr8:131159000-131171200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:131159400-131194000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:131160200-131167800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr8:131160800-131168600	Weak transcription	HMEC	breast
49	chr8:131161400-131172800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:131162000-131168600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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