Variant report

Variant	rs11217750
Chromosome Location	chr11:120049484-120049485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120048267..120049912-chr11:120106077..120107880,2	K562	blood:
2	chr11:120043099..120045650-chr11:120048774..120051644,2	K562	blood:
3	chr11:120047526..120050169-chr11:120053721..120056397,2	K562	blood:
4	chr11:120045083..120049940-chr11:120105955..120109053,5	K562	blood:
5	chr11:120045369..120049048-chr11:120049155..120051073,3	K562	blood:
6	chr11:120049376..120051724-chr11:120052135..120053974,2	K562	blood:

Variant related genes	Relation type
ENSG00000137699	Chromatin interaction
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10790369	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892544	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892545	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217699	0.83[JPT][hapmap]
rs11217701	0.89[AMR][1000 genomes]
rs11217702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11217705	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11217707	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11217708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217712	0.86[ASN][1000 genomes]
rs11217713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11217723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217725	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11217726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217732	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217739	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217741	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217742	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11217743	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217744	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217745	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11217746	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217748	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217749	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217751	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217753	1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217754	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11535714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12049837	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12224041	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12224472	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12225418	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274981	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12281157	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283165	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291620	0.94[AMR][1000 genomes]
rs12417084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12417094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12417234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12418352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12419511	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12419830	0.89[AMR][1000 genomes]
rs12419976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12419985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12420985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12421218	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12422179	0.81[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34981150	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3740728	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740729	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740730	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7118957	0.83[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73575945	0.82[ASN][1000 genomes]
rs896693	0.83[JPT][hapmap]

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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120040600-120049600	Weak transcription	Right Atrium	heart
2	chr11:120043600-120051000	Weak transcription	HepG2	liver
3	chr11:120043600-120057000	Weak transcription	Esophagus	oesophagus
4	chr11:120043800-120050400	Weak transcription	Liver	Liver
5	chr11:120044400-120049600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:120044400-120055200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:120044600-120051400	Weak transcription	Fetal Kidney	kidney
8	chr11:120044600-120051800	Weak transcription	Pancreas	Pancrea
9	chr11:120045000-120051200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:120046200-120053000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:120046400-120049600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:120046400-120051000	Weak transcription	Fetal Intestine Large	intestine
13	chr11:120046400-120051600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:120046800-120055800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:120048200-120055600	Enhancers	Fetal Stomach	stomach
16	chr11:120048400-120051000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:120048400-120051600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:120048600-120049600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:120048600-120051200	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:120048600-120051600	Weak transcription	Brain Substantia Nigra	brain
21	chr11:120048800-120049800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:120049000-120049800	Enhancers	Colon Smooth Muscle	Colon
23	chr11:120049000-120050000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr11:120049000-120050200	Weak transcription	Brain Angular Gyrus	brain
25	chr11:120049000-120050200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr11:120049000-120051600	Enhancers	Fetal Lung	lung
27	chr11:120049000-120052000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:120049000-120052200	Enhancers	Fetal Muscle Leg	muscle
29	chr11:120049000-120055200	Enhancers	Fetal Muscle Trunk	muscle
30	chr11:120049200-120049600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:120049200-120049800	Enhancers	NHLF	lung
32	chr11:120049200-120050000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
33	chr11:120049200-120050200	Enhancers	Adipose Nuclei	Adipose
34	chr11:120049200-120050600	Enhancers	Stomach Smooth Muscle	stomach
35	chr11:120049200-120054400	Genic enhancers	Fetal Intestine Small	intestine
36	chr11:120049400-120049600	Enhancers	Left Ventricle	heart
37	chr11:120049400-120049600	Enhancers	NHDF-Ad	bronchial
38	chr11:120049400-120050000	Enhancers	Ovary	ovary
39	chr11:120049400-120050200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:120049400-120051200	Weak transcription	HUVEC	blood vessel
41	chr11:120049400-120051400	Enhancers	Osteobl	bone
42	chr11:120049400-120051800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:120049400-120054800	Enhancers	Brain Anterior Caudate	brain
44	chr11:120049400-120059800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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