Variant report

Variant	rs880487
Chromosome Location	chr11:120063980-120063981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10790369	0.83[JPT][hapmap]
rs11217705	0.86[JPT][hapmap]
rs11217732	0.86[JPT][hapmap]
rs11217739	0.86[JPT][hapmap]
rs11217742	0.85[JPT][hapmap]
rs11217748	0.86[JPT][hapmap]
rs11217749	0.85[JPT][hapmap]
rs11217750	0.85[JPT][hapmap]
rs11217751	0.82[JPT][hapmap]
rs11217753	0.81[JPT][hapmap]
rs12049837	0.85[JPT][hapmap]
rs12291620	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12419511	0.85[JPT][hapmap]
rs12420591	0.81[ASN][1000 genomes]
rs12422179	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12791282	0.99[EUR][1000 genomes]
rs12791393	0.86[EUR][1000 genomes]
rs12792820	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs12800456	0.96[EUR][1000 genomes]
rs12807240	0.99[EUR][1000 genomes]
rs12807541	0.99[EUR][1000 genomes]
rs12808972	0.87[EUR][1000 genomes]
rs2076765	0.82[EUR][1000 genomes]
rs3740728	0.86[JPT][hapmap]
rs3740729	0.86[JPT][hapmap]
rs3740731	0.86[JPT][hapmap]
rs7118957	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7119349	0.86[ASN][1000 genomes]
rs7119458	0.82[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs896693	1.00[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription 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 miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120056000-120064600	Enhancers	Fetal Stomach	stomach
2	chr11:120058000-120068800	Weak transcription	Right Atrium	heart
3	chr11:120058200-120068200	Weak transcription	Spleen	Spleen
4	chr11:120058400-120066400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:120058400-120066600	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:120058400-120066800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:120059400-120067200	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:120060000-120067400	Weak transcription	Right Ventricle	heart
9	chr11:120061400-120064600	Enhancers	Fetal Intestine Large	intestine
10	chr11:120062000-120064000	Enhancers	Fetal Brain Male	brain
11	chr11:120062200-120064400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr11:120062200-120065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:120062200-120073600	Enhancers	Fetal Intestine Small	intestine
14	chr11:120062400-120064200	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr11:120062600-120066400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:120063000-120064200	Enhancers	Placenta	Placenta
17	chr11:120063000-120064200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr11:120063000-120064600	Enhancers	Ovary	ovary
19	chr11:120063000-120064600	Enhancers	Pancreas	Pancrea
20	chr11:120063200-120065800	Weak transcription	Fetal Kidney	kidney
21	chr11:120063200-120066000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:120063200-120066400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:120063400-120064400	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr11:120063600-120064200	Enhancers	Esophagus	oesophagus
25	chr11:120063600-120064200	Enhancers	Fetal Lung	lung
26	chr11:120063600-120064400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:120063600-120064400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr11:120063600-120064400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr11:120063600-120064600	Flanking Active TSS	HepG2	liver
30	chr11:120063800-120064000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:120063800-120064000	Flanking Active TSS	Liver	Liver
32	chr11:120063800-120064000	Enhancers	Duodenum Mucosa	Duodenum
33	chr11:120063800-120064200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:120063800-120064400	Enhancers	Fetal Heart	heart
35	chr11:120063800-120064400	Enhancers	Gastric	stomach
36	chr11:120063800-120064400	Enhancers	Small Intestine	intestine
37	chr11:120063800-120064600	Enhancers	Colonic Mucosa	Colon

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