Variant report

Variant	rs392565
Chromosome Location	chr11:72290629-72290630
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72290299..72292837-chr11:72306814..72308929,2	K562	blood:
2	chr11:72288586..72291436-chr11:72293581..72295884,2	K562	blood:
3	chr11:72289408..72292307-chr11:72292834..72294829,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256633	Chromatin interaction
ENSG00000186642	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs171021	0.87[CHB][hapmap];0.82[CHD][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap]
rs1980091	0.80[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2365774	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap]
rs341085	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs371862	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs382163	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs426907	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72269600-72295200	Weak transcription	Right Atrium	heart
2	chr11:72282800-72295200	Weak transcription	Gastric	stomach
3	chr11:72283000-72292000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:72285000-72292200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:72285000-72296200	Weak transcription	Liver	Liver
6	chr11:72285200-72291400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:72286200-72291400	Strong transcription	Spleen	Spleen
8	chr11:72286800-72291400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:72287400-72293000	Strong transcription	Fetal Muscle Leg	muscle
10	chr11:72287400-72295200	Strong transcription	Brain Hippocampus Middle	brain
11	chr11:72287400-72296600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:72287600-72293000	Strong transcription	Brain Cingulate Gyrus	brain
13	chr11:72287600-72295000	Strong transcription	Adipose Nuclei	Adipose
14	chr11:72287600-72295000	Strong transcription	Right Ventricle	heart
15	chr11:72287800-72294200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr11:72287800-72294800	Strong transcription	Fetal Brain Female	brain
17	chr11:72287800-72296400	Strong transcription	Stomach Smooth Muscle	stomach
18	chr11:72288000-72293200	Strong transcription	Brain Germinal Matrix	brain
19	chr11:72288000-72293600	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr11:72288400-72291200	Weak transcription	HSMMtube	muscle
21	chr11:72289200-72293600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
22	chr11:72289200-72294000	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:72289400-72292200	Weak transcription	Left Ventricle	heart
24	chr11:72289400-72299800	Weak transcription	Lung	lung
25	chr11:72289600-72291000	Weak transcription	Hela-S3	cervix
26	chr11:72289800-72295600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:72290000-72290800	Weak transcription	Fetal Intestine Small	intestine
28	chr11:72290000-72291000	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:72290000-72291400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:72290400-72290800	Weak transcription	Brain Anterior Caudate	brain
31	chr11:72290400-72291200	Weak transcription	Brain Angular Gyrus	brain
32	chr11:72290600-72292000	Enhancers	Primary B cells from peripheral blood	blood

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