Variant report

Variant	rs61417743
Chromosome Location	chr11:72339693-72339694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72339617..72343114-chr11:72344003..72346053,4	K562	blood:
2	chr11:72332869..72335160-chr11:72338112..72340780,2	K562	blood:
3	chr11:72338376..72339958-chr11:72347160..72349591,2	K562	blood:

Variant related genes	Relation type
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1056864	1.00[AMR][1000 genomes]
rs10751207	1.00[AMR][1000 genomes]
rs1299161	1.00[AMR][1000 genomes]
rs366711	1.00[AMR][1000 genomes]
rs371903	1.00[AMR][1000 genomes]
rs379276	1.00[AMR][1000 genomes]
rs379638	1.00[AMR][1000 genomes]
rs390130	1.00[AMR][1000 genomes]
rs392818	1.00[AMR][1000 genomes]
rs408269	1.00[AMR][1000 genomes]
rs414178	1.00[AMR][1000 genomes]
rs424234	1.00[AMR][1000 genomes]
rs452228	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[AMR][1000 genomes]
rs58744558	1.00[AMR][1000 genomes]
rs59222962	1.00[AMR][1000 genomes]
rs59414438	1.00[AMR][1000 genomes]
rs633405	1.00[AMR][1000 genomes]
rs644698	1.00[AMR][1000 genomes]
rs7108477	1.00[AMR][1000 genomes]
rs7110834	1.00[AMR][1000 genomes]
rs73529620	1.00[AMR][1000 genomes]
rs73529662	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73529668	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73529672	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73541179	1.00[AMR][1000 genomes]
rs73541198	1.00[AMR][1000 genomes]
rs73542594	0.93[AFR][1000 genomes];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	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73546206	1.00[AMR][1000 genomes]
rs73546230	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
6	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
7	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
8	esv1793754	chr11:72335673-72348106	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72331400-72341200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:72334200-72341600	Enhancers	Right Atrium	heart
3	chr11:72334800-72350200	Enhancers	Left Ventricle	heart
4	chr11:72335400-72340000	Enhancers	Fetal Brain Female	brain
5	chr11:72335400-72340200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr11:72335400-72341200	Enhancers	Brain Anterior Caudate	brain
7	chr11:72335400-72346600	Enhancers	Brain Angular Gyrus	brain
8	chr11:72335600-72340800	Enhancers	Colon Smooth Muscle	Colon
9	chr11:72335600-72341000	Enhancers	Right Ventricle	heart
10	chr11:72335600-72341200	Enhancers	Brain Substantia Nigra	brain
11	chr11:72335600-72341200	Enhancers	Lung	lung
12	chr11:72335600-72344600	Enhancers	Rectal Smooth Muscle	rectum
13	chr11:72335600-72349400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr11:72335800-72342600	Enhancers	Fetal Muscle Trunk	muscle
15	chr11:72335800-72349000	Enhancers	Fetal Brain Male	brain
16	chr11:72335800-72350600	Enhancers	Brain Hippocampus Middle	brain
17	chr11:72336000-72345000	Enhancers	Fetal Muscle Leg	muscle
18	chr11:72336000-72350400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:72336400-72343200	Enhancers	Brain Germinal Matrix	brain
20	chr11:72337400-72342400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:72337400-72342800	Weak transcription	Pancreas	Pancrea
22	chr11:72337600-72342200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:72337600-72343000	Weak transcription	Liver	Liver
24	chr11:72337800-72340200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:72337800-72342400	Weak transcription	Fetal Heart	heart
26	chr11:72337800-72348200	Weak transcription	Gastric	stomach
27	chr11:72338000-72339800	Weak transcription	Fetal Intestine Small	intestine
28	chr11:72338000-72340200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:72338200-72341200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr11:72338200-72342400	Weak transcription	K562	blood
31	chr11:72338200-72342600	Weak transcription	Fetal Intestine Large	intestine
32	chr11:72338400-72340000	Weak transcription	Placenta	Placenta
33	chr11:72338400-72342200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr11:72338400-72342600	Weak transcription	Colonic Mucosa	Colon
35	chr11:72338400-72342600	Weak transcription	HUVEC	blood vessel
36	chr11:72338400-72348200	Weak transcription	Ovary	ovary
37	chr11:72338600-72340600	Enhancers	HSMMtube	muscle
38	chr11:72338800-72340200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:72339000-72340200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:72339000-72340200	Weak transcription	Psoas Muscle	Psoas
41	chr11:72339000-72350600	Enhancers	Brain Cingulate Gyrus	brain
42	chr11:72339200-72340800	Weak transcription	Adipose Nuclei	Adipose
43	chr11:72339200-72341400	Enhancers	Fetal Stomach	stomach
44	chr11:72339400-72339800	Enhancers	Stomach Smooth Muscle	stomach
45	chr11:72339600-72342600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:72339600-72345000	Genic enhancers	Spleen	Spleen

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