Variant report

Variant	rs7308381
Chromosome Location	chr12:20766685-20766686
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10743379	0.91[YRI][hapmap];0.82[AFR][1000 genomes]
rs10743380	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10770670	0.81[EUR][1000 genomes]
rs11610456	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11611208	0.88[CEU][hapmap];0.97[EUR][1000 genomes]
rs11611971	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11612686	0.84[EUR][1000 genomes]
rs11615708	0.87[EUR][1000 genomes]
rs12307274	0.97[EUR][1000 genomes]
rs4131319	0.84[EUR][1000 genomes]
rs4265637	0.84[EUR][1000 genomes]
rs4594049	0.91[AFR][1000 genomes]
rs6487113	0.90[EUR][1000 genomes]
rs7961297	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7964099	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9668712	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv557702	chr12:20755626-20779078	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
7	nsv469158	chr12:20766559-20783761	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	nsv557703	chr12:20766559-20783761	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20756200-20780200	Weak transcription	Fetal Stomach	stomach
2	chr12:20756200-20784400	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:20761200-20769200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:20761400-20771000	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:20761400-20781400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:20761400-20784200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:20761600-20769200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:20763000-20780200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:20763600-20768000	Weak transcription	Fetal Intestine Small	intestine
10	chr12:20764800-20769200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:20764800-20769200	Weak transcription	Osteobl	bone
12	chr12:20765200-20781400	Weak transcription	HUVEC	blood vessel
13	chr12:20765400-20771800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:20765800-20769200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:20765800-20771000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:20765800-20782000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:20766200-20766800	Flanking Active TSS	A549	lung
18	chr12:20766200-20767000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr12:20766200-20767000	Strong transcription	Fetal Intestine Large	intestine
20	chr12:20766400-20766800	Genic enhancers	Left Ventricle	heart
21	chr12:20766400-20767600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:20766600-20780400	Weak transcription	Aorta	Aorta
23	chr12:20766600-20787800	Weak transcription	Right Ventricle	heart
24	chr12:20766600-20805000	Strong transcription	Hela-S3	cervix

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