Variant report

Variant	rs12200232
Chromosome Location	chr6:118961415-118961416
allele	C/T
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: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12153828	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153955	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189855	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190763	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12192216	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12194496	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194679	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195048	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195858	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199508	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199837	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12201919	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203311	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203844	0.88[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204855	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216440	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1688629	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1688630	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1688638	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1771753	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1771754	1.00[JPT][hapmap]
rs1771759	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1936058	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638527	1.00[JPT][hapmap]
rs2638531	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2638546	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2638549	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2638553	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34479025	1.00[ASN][1000 genomes]
rs34496399	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35327831	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35407905	1.00[ASN][1000 genomes]
rs61380216	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67299819	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6941759	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745369	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7766888	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794858	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs794860	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9320664	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9401080	1.00[ASN][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	chr6:118958000-118964800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:118958000-118966000	Weak transcription	Pancreas	Pancrea
25	chr6:118958000-118970000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:118959000-118962400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:118959200-118961600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:118959200-118961800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr6:118959200-118961800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:118959200-118966800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr6:118959600-118961600	Enhancers	Primary T cells from cord blood	blood
32	chr6:118959600-118961600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr6:118960200-118961800	Enhancers	Fetal Lung	lung
34	chr6:118960200-118962000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr6:118960200-118963800	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr6:118960400-118961600	Enhancers	Brain Angular Gyrus	brain
37	chr6:118960400-118961800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:118960400-118962000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr6:118960400-118963200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr6:118960600-118961600	Enhancers	Dnd41	blood
41	chr6:118960600-118962000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr6:118960600-118965000	Weak transcription	Primary B cells from cord blood	blood
43	chr6:118960800-118961800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:118960800-118962600	Enhancers	Brain Anterior Caudate	brain
45	chr6:118960800-118962600	Enhancers	Brain Hippocampus Middle	brain
46	chr6:118960800-118966400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr6:118960800-118970400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:118960800-118970400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr6:118960800-118970400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:118960800-118970600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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