Variant report

Variant	rs12477881
Chromosome Location	chr2:153595330-153595331
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	chr2:153589125..153592910-chr2:153595125..153598674,4	K562	blood:
2	chr2:153594973..153596577-chr2:153598285..153600899,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10172024	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10181485	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10200667	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1036526	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1065266	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10931229	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1128804	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11544718	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11899051	0.84[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs12621561	0.88[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs12997814	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13005368	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13010731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13017428	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13031469	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13419068	0.81[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs1370498	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1437678	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16831548	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16831740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17328734	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs17400645	0.85[CHB][hapmap];0.86[ASN][1000 genomes]
rs1962313	0.85[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs1986743	0.85[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs1992146	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2118377	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2304556	0.84[CHB][hapmap]
rs2304559	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2346534	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2346539	0.82[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs2346540	0.84[ASN][1000 genomes]
rs2346541	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2346542	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2346543	0.86[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs2346549	0.81[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs2346550	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3171980	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3175	0.83[JPT][hapmap]
rs34585982	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34668102	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3748937	0.86[ASN][1000 genomes]
rs3748938	0.81[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs3748939	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3762503	0.81[CHB][hapmap];0.84[ASN][1000 genomes]
rs3762506	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3762507	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3811566	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4233660	0.86[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs4267470	0.86[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs4580346	0.81[ASN][1000 genomes]
rs4664121	0.82[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs4664122	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4664601	0.81[CHB][hapmap];0.84[ASN][1000 genomes]
rs4664602	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4664604	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4664605	0.85[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs4664606	0.85[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs4664607	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4664609	0.87[ASN][1000 genomes]
rs4664610	0.86[CHB][hapmap];0.80[JPT][hapmap];0.89[ASN][1000 genomes]
rs55785027	0.80[EUR][1000 genomes]
rs56283545	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61049574	0.86[ASN][1000 genomes]
rs6434128	0.90[CHB][hapmap]
rs6434161	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6434162	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6713779	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6723574	0.87[ASN][1000 genomes]
rs6727279	0.83[ASN][1000 genomes]
rs6746079	0.84[ASN][1000 genomes]
rs6746321	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6748160	0.86[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs715047	0.82[ASN][1000 genomes]
rs72871191	0.84[ASN][1000 genomes]
rs72872607	0.84[ASN][1000 genomes]
rs7556673	0.81[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs7558920	0.84[ASN][1000 genomes]
rs7559219	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7560393	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7570759	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7576152	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7576847	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs7582253	0.82[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs7589899	0.86[ASN][1000 genomes]
rs7592669	0.89[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7593347	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7596408	0.80[CHB][hapmap]
rs7599946	0.86[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs7605709	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7608603	0.85[CHB][hapmap];0.80[JPT][hapmap];0.86[ASN][1000 genomes]
rs9288121	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9288125	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9288127	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9646744	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9789505	0.84[ASN][1000 genomes]
rs9789521	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1798142	chr2:153578113-153600123	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875293	chr2:153578900-153617420	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv834422	chr2:153589448-153743069	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153575800-153611600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:153575800-153611600	Weak transcription	Esophagus	oesophagus
3	chr2:153575800-153621400	Weak transcription	Pancreas	Pancrea
4	chr2:153576000-153615800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:153577200-153617600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:153577600-153617800	Weak transcription	NHLF	lung
7	chr2:153578600-153605800	Weak transcription	Fetal Heart	heart
8	chr2:153579600-153602000	Weak transcription	Fetal Brain Male	brain
9	chr2:153579800-153599800	Weak transcription	A549	lung
10	chr2:153582000-153610600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:153583000-153611600	Weak transcription	Lung	lung
12	chr2:153587400-153595600	Weak transcription	Psoas Muscle	Psoas
13	chr2:153587400-153603800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:153587400-153608800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:153587400-153610600	Weak transcription	Small Intestine	intestine
16	chr2:153587600-153599800	Weak transcription	Stomach Mucosa	stomach
17	chr2:153587600-153602000	Weak transcription	Hela-S3	cervix
18	chr2:153587600-153618000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:153587600-153621600	Weak transcription	NHEK	skin
20	chr2:153588000-153617800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:153588200-153618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:153588600-153619400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:153589400-153613600	Weak transcription	Brain Angular Gyrus	brain
24	chr2:153589600-153601600	Weak transcription	Brain Substantia Nigra	brain
25	chr2:153590200-153616800	Weak transcription	Right Ventricle	heart
26	chr2:153590400-153620400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:153590800-153595600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:153590800-153596800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:153591000-153596000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:153591000-153597000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:153591000-153611800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:153591200-153596800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:153591400-153596200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr2:153591400-153596400	Strong transcription	Primary T cells from cord blood	blood
35	chr2:153591400-153596400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:153591400-153596400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:153591400-153596800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:153591400-153597000	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr2:153591400-153597000	Strong transcription	Fetal Thymus	thymus
40	chr2:153591600-153595800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr2:153591600-153596800	Strong transcription	Placenta	Placenta
42	chr2:153592000-153597000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:153592200-153618800	Weak transcription	HSMMtube	muscle
44	chr2:153592400-153596600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:153592600-153596200	Strong transcription	Fetal Lung	lung
46	chr2:153592600-153596800	Strong transcription	Fetal Intestine Large	intestine
47	chr2:153592800-153596000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:153592800-153596400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr2:153592800-153596600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:153592800-153596600	Strong transcription	Adipose Nuclei	Adipose

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