Variant report

Variant	rs341088
Chromosome Location	chr11:72313975-72313976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72307077..72309343-chr11:72312749..72315321,2	K562	blood:
2	chr11:72313089..72314978-chr11:72334364..72335937,2	K562	blood:
3	chr11:72313216..72314795-chr11:72323736..72325517,2	K562	blood:

Variant related genes	Relation type
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10793036	0.96[ASN][1000 genomes]
rs11235546	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235551	0.87[ASN][1000 genomes]
rs1135029	0.91[ASN][1000 genomes]
rs11605051	0.89[ASN][1000 genomes]
rs12276767	0.87[ASN][1000 genomes]
rs1467135	0.91[ASN][1000 genomes]
rs168173	0.90[ASN][1000 genomes]
rs1980089	0.90[ASN][1000 genomes]
rs1980090	0.91[ASN][1000 genomes]
rs2280098	0.91[ASN][1000 genomes]
rs341049	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs341086	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3781938	0.91[ASN][1000 genomes]
rs3781939	0.91[ASN][1000 genomes]
rs3825009	0.88[ASN][1000 genomes]
rs429075	0.91[ASN][1000 genomes]
rs456405	0.85[ASN][1000 genomes]
rs458575	0.87[ASN][1000 genomes]
rs4943939	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56350365	0.91[ASN][1000 genomes]
rs61895571	0.96[ASN][1000 genomes]
rs61895572	0.87[ASN][1000 genomes]
rs90409	0.95[ASN][1000 genomes]
rs907850	0.91[ASN][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72304600-72316600	Weak transcription	Left Ventricle	heart
2	chr11:72306400-72315200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:72310400-72316800	Weak transcription	Colonic Mucosa	Colon
4	chr11:72310600-72316000	Weak transcription	Right Ventricle	heart
5	chr11:72311000-72316600	Weak transcription	Esophagus	oesophagus
6	chr11:72311200-72314400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:72311200-72316000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:72311400-72314600	Weak transcription	Fetal Brain Female	brain
9	chr11:72311600-72314400	Weak transcription	Brain Anterior Caudate	brain
10	chr11:72312000-72314400	Weak transcription	Brain Germinal Matrix	brain
11	chr11:72312000-72316600	Weak transcription	HSMMtube	muscle
12	chr11:72312000-72317000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:72312200-72317000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:72312800-72317600	Genic enhancers	Spleen	Spleen
15	chr11:72313000-72314000	Bivalent Enhancer	Stomach Mucosa	stomach
16	chr11:72313200-72314200	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:72313400-72314000	Bivalent Enhancer	Adipose Nuclei	Adipose
18	chr11:72313400-72316000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:72313400-72316200	Strong transcription	Fetal Muscle Leg	muscle
20	chr11:72313400-72322400	Weak transcription	Fetal Intestine Small	intestine
21	chr11:72313600-72314000	Genic enhancers	Brain Angular Gyrus	brain
22	chr11:72313600-72315400	Strong transcription	Brain Hippocampus Middle	brain
23	chr11:72313600-72316600	Strong transcription	Stomach Smooth Muscle	stomach
24	chr11:72313600-72316800	Weak transcription	Gastric	stomach
25	chr11:72313600-72317200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:72313800-72314200	Genic enhancers	Brain Inferior Temporal Lobe	brain
27	chr11:72313800-72314400	Weak transcription	Brain Cingulate Gyrus	brain

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