Variant report

Variant	rs12198145
Chromosome Location	chr6:75887271-75887272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10484915	0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs1203210	0.90[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12176508	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12215389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1323069	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1407733	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs1407734	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs1474847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16886237	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16886240	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs171261	0.80[EUR][1000 genomes]
rs171264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173274	1.00[CEU][hapmap]
rs187067	1.00[CEU][hapmap]
rs1967709	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs240363	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs240365	0.84[EUR][1000 genomes]
rs240366	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs240370	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs240394	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap]
rs240395	1.00[CEU][hapmap]
rs240399	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap]
rs240408	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs240411	0.87[ASN][1000 genomes]
rs240413	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs240414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240415	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240418	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs240422	0.90[CEU][hapmap]
rs240433	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs240721	0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs240741	0.94[JPT][hapmap]
rs3756791	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3777505	0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs3777507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777508	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777509	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777510	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs431116	0.90[CEU][hapmap]
rs511970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs588691	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs601846	0.84[EUR][1000 genomes]
rs73463812	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73747435	0.96[ASN][1000 genomes]
rs73747437	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs743003	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs743004	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs743005	0.84[EUR][1000 genomes]
rs7768671	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs910523	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs9293997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9360895	0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs9443160	0.90[CEU][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022377	chr6:75762463-75919592	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv538309	chr6:75762463-75919592	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv830697	chr6:75763095-75915029	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv463155	chr6:75789526-75980419	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv603762	chr6:75789526-75980419	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv886181	chr6:75852488-75919484	Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75862400-75888600	Weak transcription	Fetal Intestine Large	intestine
2	chr6:75862400-75889800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:75877200-75900200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:75877400-75888800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:75877600-75905800	Strong transcription	HSMM	muscle
6	chr6:75880600-75888200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:75881400-75889200	Weak transcription	Aorta	Aorta
8	chr6:75881400-75896400	Weak transcription	Fetal Kidney	kidney
9	chr6:75881600-75891600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:75881600-75893200	Weak transcription	Fetal Intestine Small	intestine
11	chr6:75881600-75898000	Weak transcription	Colon Smooth Muscle	Colon
12	chr6:75881800-75889600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:75882000-75888200	Weak transcription	Fetal Heart	heart
14	chr6:75882600-75889800	Strong transcription	Osteobl	bone
15	chr6:75882600-75891600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:75883600-75888600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:75883800-75888400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:75884000-75887600	Strong transcription	Fetal Muscle Leg	muscle
19	chr6:75884200-75888200	Strong transcription	NHDF-Ad	bronchial
20	chr6:75884200-75888400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:75884200-75889600	Strong transcription	Stomach Smooth Muscle	stomach
22	chr6:75884200-75891000	Strong transcription	HSMMtube	muscle
23	chr6:75884400-75890800	Strong transcription	NH-A	brain
24	chr6:75884400-75894200	Strong transcription	Fetal Muscle Trunk	muscle
25	chr6:75884600-75888200	Strong transcription	NHEK	skin
26	chr6:75885200-75887800	Weak transcription	HMEC	breast
27	chr6:75885400-75888000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:75885600-75890200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:75885800-75887600	Strong transcription	Fetal Stomach	stomach
30	chr6:75886200-75889600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:75886200-75889600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:75886200-75889600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr6:75886200-75889800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:75886200-75890600	Weak transcription	Lung	lung
35	chr6:75886200-75892800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:75886400-75889400	Weak transcription	Adipose Nuclei	Adipose
37	chr6:75886400-75889600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:75886400-75889800	Weak transcription	Ovary	ovary
39	chr6:75886600-75888200	Weak transcription	NHLF	lung
40	chr6:75886600-75896400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:75886800-75888200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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