Variant report

Variant	rs10861601
Chromosome Location	chr12:106816741-106816742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106813373..106816819-chr12:106818451..106821463,3	K562	blood:
2	chr12:106815439..106817563-chr12:107168270..107169813,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257545	Chromatin interaction
ENSG00000111785	Chromatin interaction

Extended variants
information (count: 167 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:165)

rs_ID	r²[population]
rs10047654	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10444532	0.88[EUR][1000 genomes]
rs10507211	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10746059	0.80[ASN][1000 genomes]
rs10746060	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778464	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10778465	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778466	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778468	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778469	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778470	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778471	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778473	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778474	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778475	1.00[ASN][1000 genomes]
rs10778476	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778477	0.88[ASN][1000 genomes]
rs10778478	1.00[ASN][1000 genomes]
rs10778480	1.00[ASN][1000 genomes]
rs10778481	1.00[ASN][1000 genomes]
rs10861577	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs10861578	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs10861579	0.85[EUR][1000 genomes]
rs10861580	0.92[ASN][1000 genomes]
rs10861581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10861582	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10861583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10861585	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10861586	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10861587	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10861588	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10861589	0.92[ASN][1000 genomes]
rs10861590	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10861591	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10861592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10861593	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10861594	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10861595	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10861597	1.00[CHB][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10861598	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10861599	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10861604	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861605	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10861608	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10861609	1.00[ASN][1000 genomes]
rs10861613	0.96[ASN][1000 genomes]
rs11112933	1.00[CHB][hapmap]
rs11112940	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11112942	0.81[ASN][1000 genomes]
rs11112943	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11112945	0.85[EUR][1000 genomes]
rs11112948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11112949	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11112951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11112952	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11112953	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11112957	0.92[ASN][1000 genomes]
rs11112961	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112971	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112979	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112980	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112986	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112990	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112991	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112992	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112993	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112995	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11113003	0.88[ASN][1000 genomes]
rs11113004	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11113009	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1134577	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11609315	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11611176	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11611252	1.00[ASN][1000 genomes]
rs11611815	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11615682	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11835357	1.00[ASN][1000 genomes]
rs11835362	0.88[ASN][1000 genomes]
rs12298876	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12305705	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309708	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12309758	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12312915	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322877	0.89[ASN][1000 genomes]
rs12422988	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12423068	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12424952	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12425459	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17038414	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17218490	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17284674	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17285274	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs1921952	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2141774	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2141775	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2243455	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2288268	0.81[AMR][1000 genomes]
rs2374606	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2374610	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28669886	0.81[ASN][1000 genomes]
rs2888888	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2900499	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2900500	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34955444	0.80[ASN][1000 genomes]
rs3851631	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3851632	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3851633	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4509864	1.00[JPT][hapmap]
rs4625578	0.86[EUR][1000 genomes]
rs55678155	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55689816	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58297001	0.81[ASN][1000 genomes]
rs58767490	0.81[ASN][1000 genomes]
rs60224628	0.81[ASN][1000 genomes]
rs60635749	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61940334	0.81[ASN][1000 genomes]
rs61940335	0.81[ASN][1000 genomes]
rs61940342	0.81[ASN][1000 genomes]
rs61941917	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61941918	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61941920	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61941921	0.88[ASN][1000 genomes]
rs61941922	1.00[ASN][1000 genomes]
rs61941943	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61941944	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61943670	0.85[EUR][1000 genomes]
rs61943672	0.80[ASN][1000 genomes]
rs61943690	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61943693	0.84[ASN][1000 genomes]
rs61943694	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539268	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539269	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6539270	1.00[ASN][1000 genomes]
rs6539271	1.00[ASN][1000 genomes]
rs67911933	0.92[ASN][1000 genomes]
rs67966244	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7132744	0.83[EUR][1000 genomes]
rs7132971	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7134615	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134881	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs7135054	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7136098	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7137445	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7139139	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139249	1.00[ASN][1000 genomes]
rs7297873	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7298062	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7298462	0.80[ASN][1000 genomes]
rs7303873	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306012	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7306277	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7306326	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7307711	0.82[AMR][1000 genomes]
rs7308541	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309020	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310703	0.80[ASN][1000 genomes]
rs7311957	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7313040	0.88[ASN][1000 genomes]
rs7315549	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7961133	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7963213	1.00[ASN][1000 genomes]
rs7965520	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7969743	1.00[ASN][1000 genomes]
rs7971581	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976305	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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106764000-106821000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:106773000-106828000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:106774400-106834000	Weak transcription	Small Intestine	intestine
4	chr12:106774600-106819000	Weak transcription	Right Ventricle	heart
5	chr12:106776800-106821800	Weak transcription	Brain Angular Gyrus	brain
6	chr12:106779600-106821800	Weak transcription	Brain Substantia Nigra	brain
7	chr12:106783600-106818800	Weak transcription	Fetal Heart	heart
8	chr12:106787000-106830200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:106787600-106856600	Weak transcription	GM12878-XiMat	blood
10	chr12:106787800-106852400	Weak transcription	Gastric	stomach
11	chr12:106787800-106852800	Weak transcription	Pancreas	Pancrea
12	chr12:106788000-106827200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:106789000-106829800	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:106789200-106821400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:106789400-106819000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:106789400-106821800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:106790000-106819000	Weak transcription	Lung	lung
18	chr12:106790400-106821000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:106791800-106817200	Weak transcription	Aorta	Aorta
20	chr12:106791800-106819000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:106791800-106821200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:106792000-106817200	Weak transcription	Esophagus	oesophagus
23	chr12:106792000-106819000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:106792000-106821400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:106792000-106827800	Weak transcription	Fetal Intestine Large	intestine
26	chr12:106800000-106828200	Weak transcription	K562	blood
27	chr12:106802400-106854000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:106803200-106828400	Weak transcription	Fetal Thymus	thymus
29	chr12:106804800-106832600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:106806400-106826800	Weak transcription	Spleen	Spleen
31	chr12:106807200-106828000	Weak transcription	Thymus	Thymus
32	chr12:106808600-106819000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:106808600-106827800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:106809000-106819000	Weak transcription	Psoas Muscle	Psoas
35	chr12:106809000-106821000	Weak transcription	Primary B cells from cord blood	blood
36	chr12:106809000-106821400	Weak transcription	Dnd41	blood
37	chr12:106809200-106821000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:106809200-106821600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:106809200-106830000	Weak transcription	Fetal Kidney	kidney
40	chr12:106809400-106824000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:106810600-106821400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:106810600-106823600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:106810600-106827800	Weak transcription	Fetal Intestine Small	intestine
44	chr12:106810800-106819000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:106811000-106820600	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr12:106811200-106819000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr12:106811200-106826800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:106811400-106818800	Weak transcription	Left Ventricle	heart
49	chr12:106811400-106821800	Weak transcription	Liver	Liver
50	chr12:106811400-106824000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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