Variant report

Variant	rs1513780
Chromosome Location	chr11:72320500-72320501
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72193243..72193909-chr11:72319827..72320926,3	K562	blood:
2	chr11:72315461..72317278-chr11:72318771..72321876,3	K562	blood:
3	chr11:72296428..72297428-chr11:72319819..72320660,3	K562	blood:
4	chr11:72182308..72182988-chr11:72320289..72320813,2	MCF-7	breast:
5	chr11:72314859..72319000-chr11:72319326..72322445,4	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11235547	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs341085	0.85[LWK][hapmap]
rs3781931	1.00[CEU][hapmap];0.95[GIH][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs3781934	0.95[EUR][1000 genomes]
rs4944563	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944566	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55738331	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55861597	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56210510	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs754042	0.95[EUR][1000 genomes]
rs755933	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes]
rs904469	1.00[CEU][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
2	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
3	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
5	nsv468633	chr11:72281884-72336564	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv468634	chr11:72281884-72336564	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv555406	chr11:72281884-72336564	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
9	nsv468635	chr11:72284569-72336564	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv555407	chr11:72284569-72336564	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1042182	chr11:72294042-72348491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72313400-72322400	Weak transcription	Fetal Intestine Small	intestine
2	chr11:72316600-72320600	Enhancers	Left Ventricle	heart
3	chr11:72317200-72321400	Weak transcription	Colonic Mucosa	Colon
4	chr11:72317600-72323800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:72317600-72326400	Weak transcription	Gastric	stomach
6	chr11:72318400-72321200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:72318400-72322600	Weak transcription	Esophagus	oesophagus
8	chr11:72318600-72324600	Weak transcription	Right Atrium	heart
9	chr11:72318800-72321200	Enhancers	Spleen	Spleen
10	chr11:72318800-72322800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:72318800-72324400	Weak transcription	Fetal Brain Female	brain
12	chr11:72319000-72321600	Weak transcription	Fetal Brain Male	brain
13	chr11:72319000-72324400	Weak transcription	Brain Germinal Matrix	brain
14	chr11:72319000-72325400	Weak transcription	Brain Angular Gyrus	brain
15	chr11:72319200-72325200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:72319400-72320600	Enhancers	Right Ventricle	heart
17	chr11:72319400-72323800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:72319400-72324200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:72319600-72321400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr11:72319800-72325200	Weak transcription	Brain Anterior Caudate	brain
21	chr11:72320000-72324600	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:72320000-72325000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:72320200-72325400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:72320400-72320600	Enhancers	Lung	lung
25	chr11:72320400-72320600	Enhancers	HSMMtube	muscle
26	chr11:72320400-72320800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr11:72320400-72320800	Enhancers	Colon Smooth Muscle	Colon
28	chr11:72320400-72321000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr11:72320400-72322400	Bivalent Enhancer	Adipose Nuclei	Adipose

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