Variant report

Variant	rs10778469
Chromosome Location	chr12:106819477-106819478
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	chr12:106818749..106822036-chr12:106822874..106825935,3	K562	blood:
2	chr12:106813373..106816819-chr12:106818451..106821463,3	K562	blood:

Extended variants
information (count: 159 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs10047654	0.88[ASN][1000 genomes]
rs10444532	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10507211	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10746059	0.91[ASN][1000 genomes]
rs10746060	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778464	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10778465	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778466	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778468	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778470	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778471	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778473	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778474	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778475	0.88[ASN][1000 genomes]
rs10778476	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778478	0.88[ASN][1000 genomes]
rs10778480	0.88[ASN][1000 genomes]
rs10778481	0.88[ASN][1000 genomes]
rs10778485	0.84[AMR][1000 genomes]
rs10861577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10861578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10861579	0.92[EUR][1000 genomes]
rs10861580	0.80[ASN][1000 genomes]
rs10861581	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10861582	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10861583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10861585	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10861586	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10861587	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10861588	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10861589	0.80[ASN][1000 genomes]
rs10861590	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10861591	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10861592	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861594	0.88[ASN][1000 genomes]
rs10861595	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861597	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs10861598	0.88[ASN][1000 genomes]
rs10861599	0.88[ASN][1000 genomes]
rs10861601	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10861604	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10861605	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861608	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861609	0.88[ASN][1000 genomes]
rs10861613	0.85[ASN][1000 genomes]
rs10861614	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11112933	1.00[CHB][hapmap]
rs11112940	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11112943	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11112945	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112948	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11112949	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11112951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11112952	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11112953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11112957	0.80[ASN][1000 genomes]
rs11112961	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112971	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112979	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112980	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112986	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112990	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112991	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112992	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112993	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11112995	0.88[ASN][1000 genomes]
rs11113003	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11113004	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11113009	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1134577	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11609315	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611176	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611252	0.88[ASN][1000 genomes]
rs11611815	0.83[EUR][1000 genomes]
rs11615682	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11835357	0.88[ASN][1000 genomes]
rs11835362	1.00[ASN][1000 genomes]
rs12298876	0.88[ASN][1000 genomes]
rs12305705	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12309708	0.88[ASN][1000 genomes]
rs12309758	0.88[ASN][1000 genomes]
rs12312915	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12422988	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12423068	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424952	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12425459	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17038414	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17218490	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17284674	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17285274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1921952	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2141774	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2243455	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2288268	0.86[AMR][1000 genomes]
rs2374606	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2374610	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28475238	0.82[AMR][1000 genomes]
rs2888888	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2900499	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2900500	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34955444	0.91[ASN][1000 genomes]
rs3851631	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3851632	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3851633	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4509864	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4522273	0.84[AMR][1000 genomes]
rs4625578	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55678155	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55689816	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60635749	0.88[ASN][1000 genomes]
rs61941917	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61941918	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61941920	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61941921	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61941922	0.88[ASN][1000 genomes]
rs61941943	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61941944	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943670	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61943672	0.91[ASN][1000 genomes]
rs61943690	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943693	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61943694	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6539268	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6539269	0.88[ASN][1000 genomes]
rs6539270	0.88[ASN][1000 genomes]
rs6539271	0.88[ASN][1000 genomes]
rs67911933	0.80[ASN][1000 genomes]
rs67966244	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132744	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7132971	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7134615	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7134881	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs7135054	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7136098	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7137445	0.88[ASN][1000 genomes]
rs7139139	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7139249	0.88[ASN][1000 genomes]
rs7296090	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7297873	0.88[ASN][1000 genomes]
rs7298062	0.85[EUR][1000 genomes]
rs7303873	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7306012	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7306277	0.88[ASN][1000 genomes]
rs7306326	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7307711	0.85[AMR][1000 genomes]
rs7308541	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7309020	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7310703	0.91[ASN][1000 genomes]
rs7311957	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7315549	0.88[ASN][1000 genomes]
rs7961133	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7963213	0.88[ASN][1000 genomes]
rs7965520	0.88[ASN][1000 genomes]
rs7969743	0.88[ASN][1000 genomes]
rs7971581	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7976305	0.88[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:108 , 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	chr12:106776800-106821800	Weak transcription	Brain Angular Gyrus	brain
5	chr12:106779600-106821800	Weak transcription	Brain Substantia Nigra	brain
6	chr12:106787000-106830200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:106787600-106856600	Weak transcription	GM12878-XiMat	blood
8	chr12:106787800-106852400	Weak transcription	Gastric	stomach
9	chr12:106787800-106852800	Weak transcription	Pancreas	Pancrea
10	chr12:106788000-106827200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:106789000-106829800	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:106789200-106821400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:106789400-106821800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:106790400-106821000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:106791800-106821200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:106792000-106821400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:106792000-106827800	Weak transcription	Fetal Intestine Large	intestine
18	chr12:106800000-106828200	Weak transcription	K562	blood
19	chr12:106802400-106854000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:106803200-106828400	Weak transcription	Fetal Thymus	thymus
21	chr12:106804800-106832600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:106806400-106826800	Weak transcription	Spleen	Spleen
23	chr12:106807200-106828000	Weak transcription	Thymus	Thymus
24	chr12:106808600-106827800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr12:106809000-106821000	Weak transcription	Primary B cells from cord blood	blood
26	chr12:106809000-106821400	Weak transcription	Dnd41	blood
27	chr12:106809200-106821000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:106809200-106821600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:106809200-106830000	Weak transcription	Fetal Kidney	kidney
30	chr12:106809400-106824000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:106810600-106821400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:106810600-106823600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:106810600-106827800	Weak transcription	Fetal Intestine Small	intestine
34	chr12:106811000-106820600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:106811200-106826800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:106811400-106821800	Weak transcription	Liver	Liver
37	chr12:106811400-106824000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr12:106811400-106824000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:106811600-106821000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr12:106812000-106821800	Weak transcription	Fetal Stomach	stomach
41	chr12:106812000-106855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:106812200-106821600	Weak transcription	Fetal Lung	lung
43	chr12:106812200-106822400	Weak transcription	Placenta	Placenta
44	chr12:106812600-106821600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:106812600-106827000	Weak transcription	A549	lung
46	chr12:106812800-106822800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:106813000-106821000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:106813000-106821200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:106813000-106822800	Weak transcription	Ovary	ovary
50	chr12:106813000-106823400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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