Variant report

Variant	rs11045351
Chromosome Location	chr12:20787484-20787485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10841523	1.00[LWK][hapmap]
rs10841544	1.00[LWK][hapmap]
rs10841578	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11045301	1.00[LWK][hapmap]
rs11045335	0.91[CEU][hapmap];0.88[TSI][hapmap]
rs11045352	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11045353	0.84[AMR][1000 genomes]
rs11045355	0.82[MEX][hapmap]
rs12818243	1.00[LWK][hapmap]
rs7488869	1.00[LWK][hapmap]
rs7974916	0.91[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv898858	chr12:20775890-20791982	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20766600-20787800	Weak transcription	Right Ventricle	heart
2	chr12:20766600-20805000	Strong transcription	Hela-S3	cervix
3	chr12:20767600-20787800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:20768000-20813600	Weak transcription	Colonic Mucosa	Colon
5	chr12:20774000-20810800	Weak transcription	Placenta	Placenta
6	chr12:20780400-20812800	Weak transcription	Adipose Nuclei	Adipose
7	chr12:20780600-20812800	Weak transcription	Small Intestine	intestine
8	chr12:20782800-20792600	Weak transcription	Fetal Lung	lung
9	chr12:20782800-20799000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:20783000-20791200	Weak transcription	HUVEC	blood vessel
11	chr12:20783000-20801600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:20783000-20808200	Weak transcription	Ovary	ovary
13	chr12:20783000-20808400	Weak transcription	Pancreas	Pancrea
14	chr12:20783000-20812600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:20783200-20787800	Weak transcription	Aorta	Aorta
16	chr12:20783200-20803400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:20783400-20789400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:20783800-20791400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:20784400-20788800	Strong transcription	Left Ventricle	heart
20	chr12:20784600-20794600	Strong transcription	Fetal Intestine Large	intestine
21	chr12:20784600-20799600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:20784600-20810600	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:20784800-20812600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:20784800-20816000	Weak transcription	Osteobl	bone
25	chr12:20785000-20809400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:20785600-20799000	Weak transcription	A549	lung
27	chr12:20785600-20808400	Weak transcription	Fetal Kidney	kidney
28	chr12:20786000-20788600	Strong transcription	Fetal Intestine Small	intestine
29	chr12:20786600-20787600	Enhancers	HepG2	liver
30	chr12:20786600-20788600	Strong transcription	Fetal Stomach	stomach
31	chr12:20786800-20800200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:20787200-20788000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr12:20787200-20788200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr12:20787200-20789400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr12:20787200-20789600	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:20787200-20794400	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr12:20787400-20788200	Strong transcription	Fetal Muscle Leg	muscle
38	chr12:20787400-20788400	Strong transcription	Colon Smooth Muscle	Colon

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