Variant report

Variant	rs12526431
Chromosome Location	chr6:106697392-106697393
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	chr6:106695363..106697607-chr6:106707956..106710160,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10484576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10485352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10499049	0.90[CEU][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12524358	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12526668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12529488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1415945	1.00[AFR][1000 genomes]
rs17066826	1.00[AFR][1000 genomes]
rs17066847	1.00[AFR][1000 genomes]
rs17587319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17625939	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2299860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28656919	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2883662	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3761796	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3804332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804338	0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[ASN][1000 genomes]
rs3810872	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4945745	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945746	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4946735	1.00[AFR][1000 genomes]
rs4946736	1.00[AFR][1000 genomes]
rs4946737	1.00[AFR][1000 genomes]
rs4946739	1.00[AFR][1000 genomes]
rs4946741	0.93[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes]
rs55682462	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56204731	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[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	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
6	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS 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	25 gene(s)	inside rSNPs	diseases
7	nsv1022855	chr6:106570926-106802072	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv538401	chr6:106570926-106802072	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1019265	chr6:106587627-106727591	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv538402	chr6:106587627-106727591	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	nsv1025963	chr6:106593639-106848778	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
13	nsv1020047	chr6:106597828-106912047	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv970664	chr6:106635267-106887670	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
15	nsv1030367	chr6:106667748-106802072	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv538403	chr6:106667748-106802072	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv521859	chr6:106675819-106703618	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv520329	chr6:106683995-106703618	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
19	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 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	chr6:106671600-106724400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr6:106675400-106698800	Weak transcription	Pancreas	Pancrea
3	chr6:106675400-106705000	Weak transcription	K562	blood
4	chr6:106676400-106739200	Weak transcription	Small Intestine	intestine
5	chr6:106676800-106698800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:106677000-106699600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:106677600-106713000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr6:106683400-106710000	Weak transcription	Fetal Stomach	stomach
9	chr6:106683400-106716600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:106684000-106710600	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:106684000-106710800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:106684000-106720200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:106684200-106700000	Weak transcription	NH-A	brain
14	chr6:106686000-106704000	Weak transcription	HepG2	liver
15	chr6:106686600-106710400	Weak transcription	Left Ventricle	heart
16	chr6:106688200-106698600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:106688200-106700600	Weak transcription	Psoas Muscle	Psoas
18	chr6:106688400-106700200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:106688400-106710400	Weak transcription	Right Ventricle	heart
20	chr6:106688800-106697400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:106688800-106701800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:106689400-106700600	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:106689400-106710800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:106689800-106698800	Weak transcription	Lung	lung
25	chr6:106689800-106734000	Weak transcription	Esophagus	oesophagus
26	chr6:106690000-106697400	Weak transcription	Brain Germinal Matrix	brain
27	chr6:106690200-106701000	Weak transcription	Aorta	Aorta
28	chr6:106690200-106709800	Weak transcription	Fetal Intestine Small	intestine
29	chr6:106690400-106713200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:106691200-106700000	Weak transcription	HSMMtube	muscle
31	chr6:106691600-106706000	Weak transcription	Ovary	ovary
32	chr6:106693800-106698800	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:106694000-106701000	Weak transcription	HUVEC	blood vessel
34	chr6:106694200-106698800	Weak transcription	Brain Anterior Caudate	brain
35	chr6:106694400-106697600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:106694400-106700400	Weak transcription	Fetal Brain Male	brain
37	chr6:106694400-106710800	Weak transcription	Spleen	Spleen
38	chr6:106694600-106703000	Weak transcription	Brain Angular Gyrus	brain
39	chr6:106694800-106697800	Strong transcription	Primary B cells from cord blood	blood
40	chr6:106695600-106698800	Weak transcription	Stomach Mucosa	stomach
41	chr6:106695800-106697600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:106695800-106699800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:106695800-106700000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:106695800-106700400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:106695800-106701000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:106695800-106701600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr6:106695800-106705600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:106695800-106709200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr6:106695800-106740800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr6:106696000-106697600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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