Variant report

Variant	rs341050
Chromosome Location	chr11:72349390-72349391
allele	C/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	USF1	chr11:72349021-72349450	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr11:72348794-72349512	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72340095..72342278-chr11:72348258..72351014,2	MCF-7	breast:
2	chr11:72342072..72343913-chr11:72348665..72350291,3	K562	blood:
3	chr11:72345729..72347708-chr11:72348323..72351528,4	K562	blood:

Variant related genes	Relation type
ENSG00000255808	TF binding region
PDE2A	TF binding region
ENSG00000186642	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1038377	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10898861	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs151449	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs341038	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs342321	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366068	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3781923	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781926	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs401999	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs455631	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs458437	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs459309	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs459546	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs460633	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs464853	0.96[ASN][1000 genomes]
rs676845	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs676911	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh 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
6	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 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	chr11:72334800-72350200	Enhancers	Left Ventricle	heart
2	chr11:72335600-72349400	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr11:72335800-72350600	Enhancers	Brain Hippocampus Middle	brain
4	chr11:72336000-72350400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:72339000-72350600	Enhancers	Brain Cingulate Gyrus	brain
6	chr11:72340200-72349400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:72340400-72349400	Enhancers	Fetal Brain Female	brain
8	chr11:72341600-72349400	Enhancers	Brain Anterior Caudate	brain
9	chr11:72342600-72349400	Enhancers	HUVEC	blood vessel
10	chr11:72343400-72350200	Enhancers	Right Atrium	heart
11	chr11:72343400-72351000	Weak transcription	Esophagus	oesophagus
12	chr11:72343600-72349600	Bivalent Enhancer	Fetal Stomach	stomach
13	chr11:72343600-72350800	Weak transcription	Brain Substantia Nigra	brain
14	chr11:72343600-72351000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr11:72344600-72349600	Enhancers	Stomach Smooth Muscle	stomach
16	chr11:72344600-72351600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr11:72345800-72350400	Enhancers	Colon Smooth Muscle	Colon
18	chr11:72346400-72349400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr11:72346600-72350400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr11:72346800-72351600	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr11:72347000-72350800	Enhancers	Spleen	Spleen
22	chr11:72347200-72351000	Enhancers	Brain Angular Gyrus	brain
23	chr11:72347600-72349400	Enhancers	Hela-S3	cervix
24	chr11:72347600-72351000	Enhancers	Right Ventricle	heart
25	chr11:72348200-72349400	Enhancers	Liver	Liver
26	chr11:72348200-72351000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr11:72348600-72349400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr11:72348600-72352600	Enhancers	Lung	lung
29	chr11:72348800-72349400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr11:72348800-72352800	Weak transcription	Gastric	stomach
31	chr11:72349000-72349600	Enhancers	Psoas Muscle	Psoas
32	chr11:72349000-72350800	Weak transcription	Fetal Brain Male	brain
33	chr11:72349000-72352200	Weak transcription	Pancreas	Pancrea
34	chr11:72349200-72349400	Bivalent Enhancer	Adipose Nuclei	Adipose
35	chr11:72349200-72349400	Enhancers	Brain Germinal Matrix	brain
36	chr11:72349200-72349400	Bivalent Enhancer	Small Intestine	intestine
37	chr11:72349200-72349600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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