Variant report

Variant	rs12155811
Chromosome Location	chr8:10673513-10673514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10672246..10673781-chr8:10676914..10678468,2	K562	blood:
2	chr8:10671204..10673781-chr8:10675039..10678414,4	K562	blood:
3	chr8:10655273..10657441-chr8:10673003..10675779,2	MCF-7	breast:
4	chr8:10412812..10415531-chr8:10671274..10673611,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10503409	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10503410	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1106740	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11995539	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11998382	0.90[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12375394	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12750	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs1549792	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1549793	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17712981	0.81[EUR][1000 genomes]
rs17718772	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs17720365	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17721089	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs17774331	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17774398	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17774627	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17776404	0.95[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17776427	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17776497	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17776622	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17776946	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2005310	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55637012	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55848210	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56023918	0.84[EUR][1000 genomes]
rs56046029	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56109041	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56122299	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57348261	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58193873	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984391	0.84[EUR][1000 genomes]
rs7002757	0.84[EUR][1000 genomes]
rs7009920	0.90[CEU][hapmap]
rs714370	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73200740	0.81[EUR][1000 genomes]
rs73200742	0.82[EUR][1000 genomes]
rs73208756	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73208757	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73208762	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73208766	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73208769	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73208773	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73208775	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73208778	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73208781	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73208782	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73208785	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73208789	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73208790	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73208791	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73208792	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73208793	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73208794	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73208795	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73209913	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73209918	0.91[EUR][1000 genomes]
rs73209921	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73209922	0.87[EUR][1000 genomes]
rs7817252	0.94[CEU][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7817654	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7826036	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7827063	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7838335	0.90[CEU][hapmap]
rs7845731	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs891558	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs891559	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs9650658	0.90[CEU][hapmap]
rs9650659	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519768	chr8:10600254-10691993	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv519376	chr8:10611708-10691993	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv429860	chr8:10615990-10685890	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10647000-10674400	Weak transcription	Right Ventricle	heart
2	chr8:10647000-10681200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:10647200-10673600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:10648200-10683400	Weak transcription	Brain Angular Gyrus	brain
5	chr8:10650000-10676200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:10657400-10681400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:10657400-10685800	Weak transcription	Psoas Muscle	Psoas
8	chr8:10657600-10674200	Weak transcription	Pancreas	Pancrea
9	chr8:10657600-10674600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:10657600-10674600	Weak transcription	Esophagus	oesophagus
11	chr8:10657600-10674600	Weak transcription	Left Ventricle	heart
12	chr8:10657600-10681800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:10657800-10674400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:10657800-10674600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:10657800-10680600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:10657800-10680600	Weak transcription	HSMMtube	muscle
17	chr8:10658400-10676000	Weak transcription	HepG2	liver
18	chr8:10658600-10676000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:10659400-10676000	Weak transcription	NHLF	lung
20	chr8:10659600-10682400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:10660000-10679200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:10660400-10677000	Weak transcription	NHDF-Ad	bronchial
23	chr8:10662600-10674400	Weak transcription	Brain Anterior Caudate	brain
24	chr8:10662600-10676000	Weak transcription	Brain Germinal Matrix	brain
25	chr8:10662800-10674400	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:10663000-10681200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:10663000-10681400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr8:10663000-10696200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:10665400-10674400	Weak transcription	Fetal Intestine Large	intestine
30	chr8:10665400-10674600	Weak transcription	Spleen	Spleen
31	chr8:10665400-10675200	Weak transcription	Ovary	ovary
32	chr8:10665400-10678600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:10665400-10680800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:10665600-10674600	Weak transcription	Fetal Brain Female	brain
35	chr8:10665600-10674600	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:10665600-10676000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:10665600-10680200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:10665800-10688200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:10666000-10675800	Weak transcription	Fetal Lung	lung
40	chr8:10666400-10678600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr8:10666400-10695200	Strong transcription	Primary T cells from cord blood	blood
42	chr8:10666800-10692400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:10667400-10675200	Weak transcription	HSMM	muscle
44	chr8:10667400-10677400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:10667600-10693200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:10668000-10674600	Weak transcription	Thymus	Thymus
47	chr8:10668400-10682400	Weak transcription	Colonic Mucosa	Colon
48	chr8:10668400-10696200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:10668600-10681400	Weak transcription	A549	lung
50	chr8:10669200-10679600	Strong transcription	Dnd41	blood

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