Variant report

Variant	rs7311368
Chromosome Location	chr12:40156844-40156845
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	chr12:40150704..40153291-chr12:40154955..40157099,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10877748	1.00[CEU][hapmap]
rs17127219	1.00[CEU][hapmap]
rs17127234	1.00[CEU][hapmap]
rs17127239	1.00[CEU][hapmap]
rs28370698	1.00[CEU][hapmap]
rs58831669	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60093332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7135349	1.00[CEU][hapmap]
rs7305465	1.00[CEU][hapmap];0.88[YRI][hapmap]
rs7305817	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73087812	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73087865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092112	0.96[AFR][1000 genomes]
rs73092158	0.92[AFR][1000 genomes]
rs73095613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095624	0.89[AFR][1000 genomes]
rs73095629	0.83[AFR][1000 genomes]
rs73095648	1.00[AMR][1000 genomes]
rs73095657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095664	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73096551	0.85[AFR][1000 genomes]
rs73096571	0.85[AFR][1000 genomes]
rs73096578	0.85[AFR][1000 genomes]
rs73098557	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73098572	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73098577	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73098599	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102556	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102559	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102562	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102575	0.96[AFR][1000 genomes]
rs73104971	0.85[AFR][1000 genomes]
rs73104975	0.85[AFR][1000 genomes]
rs73104981	0.85[AFR][1000 genomes]
rs7315985	1.00[CEU][hapmap]
rs7962740	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1037457	chr12:39898349-40245401	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS 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
3	nsv541480	chr12:39898349-40245401	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
4	nsv899024	chr12:40046408-40188870	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1053603	chr12:40082673-40197609	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv427907	chr12:40122713-40199621	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv428280	chr12:40122713-40199621	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40144200-40157600	Weak transcription	Pancreas	Pancrea
2	chr12:40144800-40166400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:40145000-40175000	Weak transcription	Right Ventricle	heart
4	chr12:40145600-40157400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:40146000-40166800	Weak transcription	Ovary	ovary
6	chr12:40146200-40157200	Weak transcription	Aorta	Aorta
7	chr12:40146200-40157200	Weak transcription	Left Ventricle	heart
8	chr12:40146200-40159000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:40147400-40157200	Weak transcription	Adipose Nuclei	Adipose
10	chr12:40148000-40157000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:40148200-40157000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:40150000-40157200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:40150200-40160400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:40151400-40160600	Weak transcription	NHDF-Ad	bronchial
15	chr12:40151600-40157200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:40151800-40160800	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:40152800-40159600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:40153200-40157200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr12:40153200-40171400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:40154200-40157600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:40154600-40158600	Weak transcription	Psoas Muscle	Psoas
22	chr12:40155000-40157200	Weak transcription	Fetal Intestine Large	intestine
23	chr12:40155600-40158200	Weak transcription	Colonic Mucosa	Colon
24	chr12:40155800-40161200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:40156200-40158200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:40156400-40158200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr12:40156400-40172800	Weak transcription	Fetal Intestine Small	intestine
28	chr12:40156600-40160400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:40156800-40157400	Enhancers	Fetal Lung	lung
30	chr12:40156800-40158000	Strong transcription	Liver	Liver
31	chr12:40156800-40158000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr12:40156800-40158200	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr12:40156800-40159000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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