Variant report

Variant	rs644698
Chromosome Location	chr11:72291883-72291884
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:72290717-72292055	Hela-S3	cervix:	n/a	n/a

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

Variant related genes	Relation type
PDE2A	TF binding region
ENSG00000256633	TF binding region
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1056864	1.00[AMR][1000 genomes]
rs10751207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10751208	0.87[AFR][1000 genomes]
rs1299161	1.00[AMR][1000 genomes]
rs366711	1.00[AMR][1000 genomes]
rs371903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs379276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs379638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs390130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs392818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs408269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs414178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs424234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs452228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55816648	1.00[AMR][1000 genomes]
rs56251316	1.00[AMR][1000 genomes]
rs57512065	1.00[AMR][1000 genomes]
rs577536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58744558	1.00[AMR][1000 genomes]
rs59222962	1.00[AMR][1000 genomes]
rs59414438	1.00[AMR][1000 genomes]
rs61417743	1.00[AMR][1000 genomes]
rs633405	1.00[AMR][1000 genomes]
rs7108477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110834	1.00[AMR][1000 genomes]
rs73529620	1.00[AMR][1000 genomes]
rs73529662	1.00[AMR][1000 genomes]
rs73529668	1.00[AMR][1000 genomes]
rs73529672	1.00[AMR][1000 genomes]
rs73541179	1.00[AMR][1000 genomes]
rs73541198	1.00[AMR][1000 genomes]
rs73542594	1.00[AMR][1000 genomes]
rs73543236	1.00[AMR][1000 genomes]
rs73543237	1.00[AMR][1000 genomes]
rs73543245	1.00[AMR][1000 genomes]
rs73543251	1.00[AMR][1000 genomes]
rs73544388	1.00[AMR][1000 genomes]
rs73544400	1.00[AMR][1000 genomes]
rs73546206	1.00[AMR][1000 genomes]
rs73546230	1.00[AMR][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:34 , 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	chr11:72287400-72293000	Strong transcription	Fetal Muscle Leg	muscle
7	chr11:72287400-72295200	Strong transcription	Brain Hippocampus Middle	brain
8	chr11:72287400-72296600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:72287600-72293000	Strong transcription	Brain Cingulate Gyrus	brain
10	chr11:72287600-72295000	Strong transcription	Adipose Nuclei	Adipose
11	chr11:72287600-72295000	Strong transcription	Right Ventricle	heart
12	chr11:72287800-72294200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr11:72287800-72294800	Strong transcription	Fetal Brain Female	brain
14	chr11:72287800-72296400	Strong transcription	Stomach Smooth Muscle	stomach
15	chr11:72288000-72293200	Strong transcription	Brain Germinal Matrix	brain
16	chr11:72288000-72293600	Strong transcription	Brain Inferior Temporal Lobe	brain
17	chr11:72289200-72293600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
18	chr11:72289200-72294000	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:72289400-72292200	Weak transcription	Left Ventricle	heart
20	chr11:72289400-72299800	Weak transcription	Lung	lung
21	chr11:72289800-72295600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:72290600-72292000	Enhancers	Primary B cells from peripheral blood	blood
23	chr11:72290800-72294600	Strong transcription	Brain Anterior Caudate	brain
24	chr11:72291000-72292000	Enhancers	Primary B cells from cord blood	blood
25	chr11:72291000-72292000	Enhancers	Hela-S3	cervix
26	chr11:72291000-72294800	Strong transcription	Colon Smooth Muscle	Colon
27	chr11:72291000-72295400	Weak transcription	Esophagus	oesophagus
28	chr11:72291200-72293600	Strong transcription	HSMMtube	muscle
29	chr11:72291200-72293800	Strong transcription	Brain Angular Gyrus	brain
30	chr11:72291400-72292600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:72291400-72293600	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:72291600-72293400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:72291600-72295600	Strong transcription	Spleen	Spleen
34	chr11:72291800-72292600	Strong transcription	Fetal Intestine Small	intestine

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