Variant report

Variant	rs12213494
Chromosome Location	chr6:118961143-118961144
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:118954415..118957401-chr6:118960640..118962641,2	K562	blood:
2	chr6:118960642..118962898-chr6:119005841..119008808,2	K562	blood:
3	chr6:118960572..118962933-chr6:118967463..118969327,2	K562	blood:

Variant related genes	Relation type
ENSG00000111860	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10155773	0.85[EUR][1000 genomes]
rs10457339	0.85[EUR][1000 genomes]
rs10457340	0.85[EUR][1000 genomes]
rs11153751	1.00[AMR][1000 genomes]
rs11153762	0.85[EUR][1000 genomes]
rs12190964	0.85[EUR][1000 genomes]
rs12191005	0.81[EUR][1000 genomes]
rs12191529	0.85[EUR][1000 genomes]
rs12192532	0.81[EUR][1000 genomes]
rs12197348	0.85[EUR][1000 genomes]
rs12199786	1.00[AMR][1000 genomes]
rs12200660	0.81[EUR][1000 genomes]
rs12201928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12202466	0.81[EUR][1000 genomes]
rs12203556	1.00[AMR][1000 genomes]
rs12204374	0.81[EUR][1000 genomes]
rs12205793	0.81[EUR][1000 genomes]
rs12206369	0.85[EUR][1000 genomes]
rs12206459	0.85[EUR][1000 genomes]
rs12207554	0.85[EUR][1000 genomes]
rs12209500	0.85[EUR][1000 genomes]
rs12211934	0.85[EUR][1000 genomes]
rs12215364	1.00[EUR][1000 genomes]
rs12215456	1.00[EUR][1000 genomes]
rs12215565	1.00[EUR][1000 genomes]
rs13328242	0.85[EUR][1000 genomes]
rs13437148	0.85[EUR][1000 genomes]
rs13437314	0.85[EUR][1000 genomes]
rs60500545	1.00[EUR][1000 genomes]
rs6903291	0.85[EUR][1000 genomes]
rs6904344	0.85[EUR][1000 genomes]
rs7764014	0.85[EUR][1000 genomes]
rs9320657	0.85[EUR][1000 genomes]
rs9320659	0.85[EUR][1000 genomes]
rs9320661	1.00[EUR][1000 genomes]
rs9320662	1.00[EUR][1000 genomes]
rs9372510	1.00[EUR][1000 genomes]
rs9481822	0.85[EUR][1000 genomes]
rs9481823	0.85[EUR][1000 genomes]
rs9481824	0.85[EUR][1000 genomes]
rs9481829	0.85[EUR][1000 genomes]
rs9481830	0.85[EUR][1000 genomes]
rs9481835	0.85[EUR][1000 genomes]
rs9481839	0.85[EUR][1000 genomes]
rs9489427	0.85[EUR][1000 genomes]
rs9489430	0.85[EUR][1000 genomes]
rs9489435	0.85[EUR][1000 genomes]
rs9489451	0.85[EUR][1000 genomes]
rs9489464	0.85[EUR][1000 genomes]
rs9489468	0.85[EUR][1000 genomes]
rs9489472	0.85[EUR][1000 genomes]
rs9489480	0.85[EUR][1000 genomes]
rs9489481	0.85[EUR][1000 genomes]
rs9489484	1.00[EUR][1000 genomes]
rs9489485	1.00[EUR][1000 genomes]
rs9489488	1.00[EUR][1000 genomes]
rs9489490	1.00[EUR][1000 genomes]
rs9489492	1.00[EUR][1000 genomes]
rs9489495	0.81[EUR][1000 genomes]
rs9489496	0.81[EUR][1000 genomes]
rs9489501	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv432958	chr6:118692307-119010307	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1034448	chr6:118698169-119016383	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv432959	chr6:118716318-119010307	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv949416	chr6:118772508-119033063	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv1022865	chr6:118786586-119058789	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
18	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
19	nsv1030331	chr6:118874345-118975680	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118912200-118966200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:118927000-118965000	Weak transcription	NHLF	lung
3	chr6:118931600-118970400	Weak transcription	NH-A	brain
4	chr6:118940200-118966400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:118943800-118970000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:118944400-118961600	Weak transcription	Ovary	ovary
7	chr6:118950400-118970400	Weak transcription	Fetal Kidney	kidney
8	chr6:118951600-118961800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr6:118952000-118961600	Weak transcription	Psoas Muscle	Psoas
10	chr6:118952000-118965200	Weak transcription	Aorta	Aorta
11	chr6:118952200-118965000	Weak transcription	Left Ventricle	heart
12	chr6:118952200-118966400	Weak transcription	Fetal Stomach	stomach
13	chr6:118952200-118966400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:118952200-118970600	Weak transcription	Thymus	Thymus
15	chr6:118952400-118965000	Weak transcription	Osteobl	bone
16	chr6:118953000-118964600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:118953200-118971400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:118953400-118970600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:118953800-118971200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr6:118954000-118970400	Weak transcription	HSMM	muscle
21	chr6:118954200-118965000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:118954200-118965600	Weak transcription	Fetal Thymus	thymus
23	chr6:118958000-118961400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:118958000-118964800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:118958000-118966000	Weak transcription	Pancreas	Pancrea
26	chr6:118958000-118970000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:118959000-118962400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:118959200-118961600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:118959200-118961800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr6:118959200-118961800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:118959200-118966800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr6:118959400-118961200	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr6:118959400-118961400	Enhancers	Stomach Mucosa	stomach
34	chr6:118959600-118961200	Enhancers	Liver	Liver
35	chr6:118959600-118961600	Enhancers	Primary T cells from cord blood	blood
36	chr6:118959600-118961600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr6:118960200-118961400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:118960200-118961400	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr6:118960200-118961400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr6:118960200-118961400	Enhancers	GM12878-XiMat	blood
41	chr6:118960200-118961800	Enhancers	Fetal Lung	lung
42	chr6:118960200-118962000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr6:118960200-118963800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr6:118960400-118961200	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr6:118960400-118961400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr6:118960400-118961400	Active TSS	Brain Cingulate Gyrus	brain
47	chr6:118960400-118961600	Enhancers	Brain Angular Gyrus	brain
48	chr6:118960400-118961800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:118960400-118962000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr6:118960400-118963200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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