Variant report

Variant	rs12193222
Chromosome Location	chr6:11565802-11565803
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:11141294..11142898-chr6:11563806..11566787,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10456073	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10456408	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10456409	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10947294	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10947297	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10947298	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10947299	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10947300	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10947301	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10947305	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10947330	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10947356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10947357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10947360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10947400	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10947402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10947403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10947419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12189605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12189776	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12189829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12190208	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12191269	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12191798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12192607	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12192728	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12193579	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12194303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194504	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12194522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195075	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12195374	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12196157	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12197783	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12199315	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12199737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201467	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12201652	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12202370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12203104	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12203843	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12204093	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12207526	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12207574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12208383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12208387	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12208514	0.85[EUR][1000 genomes]
rs12209347	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12209878	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12209963	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12210023	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12210076	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12211376	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12211930	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12212790	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12214484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215719	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12524640	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12525082	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12526369	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12529805	0.83[YRI][hapmap]
rs16868542	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16868544	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16871460	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16871461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16871481	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16871482	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs16871484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17697296	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17697372	0.87[ASN][1000 genomes]
rs17697397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17764876	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17764967	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2275398	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28651839	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs489364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55923988	0.85[EUR][1000 genomes]
rs56132761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6907207	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs9461842	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9461895	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9469217	0.91[JPT][hapmap]
rs9469363	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9469368	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9469544	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9469545	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9469546	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9469548	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9469550	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9469561	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9469563	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9791196	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[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	nsv600989	chr6:11509323-11581990	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1015234	chr6:11545582-11583516	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11540600-11566600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:11548000-11566600	Weak transcription	Placenta	Placenta
3	chr6:11551600-11566600	Weak transcription	Aorta	Aorta
4	chr6:11552800-11566800	Weak transcription	Brain Anterior Caudate	brain
5	chr6:11553400-11566600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:11553400-11566800	Weak transcription	Gastric	stomach
7	chr6:11553400-11567000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr6:11556400-11568000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:11556800-11566800	Weak transcription	Lung	lung
10	chr6:11556800-11571600	Weak transcription	Ovary	ovary
11	chr6:11557000-11575600	Weak transcription	Spleen	Spleen
12	chr6:11557200-11566200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:11557200-11575400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:11557400-11573200	Weak transcription	Psoas Muscle	Psoas
15	chr6:11558400-11566800	Weak transcription	Fetal Stomach	stomach
16	chr6:11559000-11566400	Weak transcription	Fetal Brain Female	brain
17	chr6:11559200-11566000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:11559800-11566600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr6:11561400-11566000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:11562200-11566400	Weak transcription	Brain Germinal Matrix	brain
21	chr6:11563400-11575600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:11564000-11566200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:11564200-11566000	Weak transcription	Dnd41	blood
24	chr6:11564200-11566800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:11564200-11569200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:11564200-11573400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr6:11564400-11566200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:11564600-11566600	Weak transcription	HSMMtube	muscle
29	chr6:11564600-11572800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr6:11564800-11566400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:11564800-11566600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr6:11564800-11566600	Weak transcription	Fetal Muscle Leg	muscle
33	chr6:11565000-11566000	Enhancers	Brain Hippocampus Middle	brain
34	chr6:11565000-11566800	Weak transcription	Liver	Liver
35	chr6:11565000-11566800	Weak transcription	HepG2	liver
36	chr6:11565200-11566000	Enhancers	Brain Substantia Nigra	brain
37	chr6:11565200-11566200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr6:11565200-11566400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr6:11565200-11566600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr6:11565200-11566600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:11565200-11566800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:11565200-11568800	Weak transcription	Colon Smooth Muscle	Colon
43	chr6:11565200-11569600	Weak transcription	Fetal Thymus	thymus
44	chr6:11565200-11575400	Weak transcription	Right Ventricle	heart
45	chr6:11565400-11566600	Weak transcription	Left Ventricle	heart
46	chr6:11565400-11566800	Weak transcription	Brain Angular Gyrus	brain
47	chr6:11565400-11566800	Weak transcription	Pancreas	Pancrea
48	chr6:11565400-11567000	Weak transcription	Fetal Intestine Small	intestine
49	chr6:11565400-11567000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr6:11565800-11567800	Strong transcription	Primary B cells from cord blood	blood

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