Variant report

Variant	rs11112995
Chromosome Location	chr12:106837749-106837750
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	chr12:106834815..106838397-chr12:106839925..106842697,3	K562	blood:

Extended variants
information (count: 152 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs10047654	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10507211	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10746059	0.80[ASN][1000 genomes]
rs10746060	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10778464	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10778465	0.88[ASN][1000 genomes]
rs10778466	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10778468	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10778469	0.88[ASN][1000 genomes]
rs10778470	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10778471	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10778473	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10778474	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10778475	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778476	0.88[ASN][1000 genomes]
rs10778477	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778478	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778480	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778481	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861580	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10861581	0.80[ASN][1000 genomes]
rs10861582	0.80[ASN][1000 genomes]
rs10861583	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10861585	0.80[ASN][1000 genomes]
rs10861586	0.80[ASN][1000 genomes]
rs10861587	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10861589	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10861590	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861591	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861592	0.88[ASN][1000 genomes]
rs10861593	0.88[ASN][1000 genomes]
rs10861594	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861595	0.88[ASN][1000 genomes]
rs10861597	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861598	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861599	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861601	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10861604	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10861605	0.88[ASN][1000 genomes]
rs10861608	0.88[ASN][1000 genomes]
rs10861609	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861613	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112940	0.81[ASN][1000 genomes]
rs11112942	0.81[ASN][1000 genomes]
rs11112943	0.81[ASN][1000 genomes]
rs11112948	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11112949	0.80[ASN][1000 genomes]
rs11112951	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11112952	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11112953	0.80[ASN][1000 genomes]
rs11112956	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112957	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11112961	0.84[ASN][1000 genomes]
rs11112971	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11112979	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11112980	1.00[ASN][1000 genomes]
rs11112986	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11112990	0.88[ASN][1000 genomes]
rs11112991	0.88[ASN][1000 genomes]
rs11112992	0.88[ASN][1000 genomes]
rs11112993	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11113003	0.88[ASN][1000 genomes]
rs11113004	0.88[ASN][1000 genomes]
rs11113009	0.88[ASN][1000 genomes]
rs11113011	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1134577	0.81[ASN][1000 genomes]
rs11609315	0.88[ASN][1000 genomes]
rs11611176	0.88[ASN][1000 genomes]
rs11611252	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611815	0.81[ASN][1000 genomes]
rs11615682	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11835357	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835362	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12298876	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305705	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12309708	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309758	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312915	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12322877	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12422988	0.81[ASN][1000 genomes]
rs12423068	0.88[ASN][1000 genomes]
rs12425459	0.88[ASN][1000 genomes]
rs17038414	0.88[ASN][1000 genomes]
rs17221107	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17284674	0.81[ASN][1000 genomes]
rs1921952	0.81[ASN][1000 genomes]
rs2141774	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2141775	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2243455	0.81[ASN][1000 genomes]
rs2374606	0.88[ASN][1000 genomes]
rs2374610	0.84[ASN][1000 genomes]
rs28669886	0.81[ASN][1000 genomes]
rs2888888	0.81[ASN][1000 genomes]
rs34955444	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3851631	0.88[ASN][1000 genomes]
rs3851632	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3851633	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4509864	0.90[EUR][1000 genomes]
rs55678155	0.88[ASN][1000 genomes]
rs55689816	0.80[ASN][1000 genomes]
rs58297001	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58767490	0.81[ASN][1000 genomes]
rs60224628	0.81[ASN][1000 genomes]
rs60635749	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61940334	0.81[ASN][1000 genomes]
rs61940335	0.81[ASN][1000 genomes]
rs61940342	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61941917	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61941918	0.88[ASN][1000 genomes]
rs61941920	0.88[ASN][1000 genomes]
rs61941921	0.88[ASN][1000 genomes]
rs61941922	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61941943	0.88[ASN][1000 genomes]
rs61941944	0.88[ASN][1000 genomes]
rs61943672	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61943690	0.88[ASN][1000 genomes]
rs61943693	0.84[ASN][1000 genomes]
rs61943694	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6539268	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6539269	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539270	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539271	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67911933	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67966244	0.88[ASN][1000 genomes]
rs7132971	0.81[ASN][1000 genomes]
rs7134615	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7134881	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7135054	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7136098	0.84[ASN][1000 genomes]
rs7137445	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139139	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7139249	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297873	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298462	0.80[ASN][1000 genomes]
rs7303873	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7306012	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7306277	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306326	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308541	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7309020	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7310703	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7311957	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7313040	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7315549	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961133	0.81[ASN][1000 genomes]
rs7963213	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965520	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969743	1.00[ASN][1000 genomes]
rs7971581	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7976305	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3435035	chr12:106765277-107015325	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832510	chr12:106787730-106951140	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' 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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106787600-106856600	Weak transcription	GM12878-XiMat	blood
2	chr12:106787800-106852400	Weak transcription	Gastric	stomach
3	chr12:106787800-106852800	Weak transcription	Pancreas	Pancrea
4	chr12:106802400-106854000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:106812000-106855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:106813000-106839600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:106813000-106864800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:106813200-106852800	Weak transcription	HMEC	breast
9	chr12:106813200-106855800	Weak transcription	NHDF-Ad	bronchial
10	chr12:106813200-106864800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:106814400-106855800	Weak transcription	Stomach Mucosa	stomach
12	chr12:106819400-106839400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:106819400-106839800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:106819400-106855600	Weak transcription	Right Ventricle	heart
15	chr12:106819600-106845000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:106819600-106846000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:106822000-106852400	Weak transcription	Brain Angular Gyrus	brain
18	chr12:106822000-106853400	Weak transcription	Fetal Brain Female	brain
19	chr12:106822400-106848400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:106823000-106838400	Weak transcription	Fetal Brain Male	brain
21	chr12:106823200-106839200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:106823200-106858000	Weak transcription	Psoas Muscle	Psoas
23	chr12:106824800-106866400	Weak transcription	NHLF	lung
24	chr12:106826200-106843600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:106827200-106853000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr12:106827200-106853200	Weak transcription	Fetal Heart	heart
27	chr12:106827800-106839200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:106828600-106841200	Weak transcription	NH-A	brain
29	chr12:106828600-106905800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:106828800-106839400	Weak transcription	Brain Substantia Nigra	brain
31	chr12:106828800-106839600	Weak transcription	Brain Anterior Caudate	brain
32	chr12:106828800-106839800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:106828800-106852400	Weak transcription	Fetal Thymus	thymus
34	chr12:106828800-106855800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:106828800-106856400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr12:106829000-106867200	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:106829200-106851800	Weak transcription	Fetal Intestine Small	intestine
38	chr12:106830200-106847400	Weak transcription	HUVEC	blood vessel
39	chr12:106830200-106851400	Weak transcription	Spleen	Spleen
40	chr12:106830400-106864600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:106830400-106865800	Weak transcription	K562	blood
42	chr12:106830600-106852400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr12:106830600-106853000	Weak transcription	HepG2	liver
44	chr12:106830800-106838200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:106830800-106839800	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:106830800-106848800	Weak transcription	Aorta	Aorta
47	chr12:106830800-106849400	Weak transcription	HSMMtube	muscle
48	chr12:106831200-106838400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:106831200-106845200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:106831200-106850200	Weak transcription	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links