Variant report

Variant	rs62492398
Chromosome Location	chr7:150597706-150597707
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150597420..150599552-chr7:150675376..150678121,2	K562	blood:
2	chr7:150596864..150597764-chr7:150685476..150685984,2	MCF-7	breast:
3	chr7:150589872..150593985-chr7:150595485..150599567,4	K562	blood:
4	chr7:150595860..150599286-chr7:150714310..150716664,3	K562	blood:

Variant related genes	Relation type
ENSG00000181652	Chromatin interaction
ENSG00000055118	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10249447	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10264535	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10264668	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10264799	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10264902	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10279036	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10279051	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10279186	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11761679	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11764238	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11767097	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11770409	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11772624	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11773715	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12670489	0.86[EUR][1000 genomes]
rs12670945	0.85[EUR][1000 genomes]
rs12671154	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17173650	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17173651	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17173652	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17258890	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2191754	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2215562	0.86[EUR][1000 genomes]
rs2373877	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28425705	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28670237	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28785222	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28847671	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2888686	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2888687	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2888688	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28889269	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4618613	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62492377	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62492378	0.86[EUR][1000 genomes]
rs62492379	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62492382	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66781963	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67091546	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73165563	0.83[EUR][1000 genomes]
rs73165573	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs732416	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73468653	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73468655	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs758892	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs758894	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs758895	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7780509	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2758140	chr7:150538821-150663697	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2759574	chr7:150538821-150663697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv967441	chr7:150566747-150612420	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv970968	chr7:150589281-150612420	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 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	chr7:150594000-150607400	Weak transcription	Right Atrium	heart
2	chr7:150595800-150598000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr7:150595800-150600200	Enhancers	Fetal Intestine Large	intestine
4	chr7:150595800-150600600	Weak transcription	HMEC	breast
5	chr7:150596000-150598000	Weak transcription	Fetal Heart	heart
6	chr7:150596000-150598000	Weak transcription	Right Ventricle	heart
7	chr7:150596000-150599600	Weak transcription	Hela-S3	cervix
8	chr7:150596200-150597800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:150596200-150597800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:150596200-150598000	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:150596200-150598400	Weak transcription	Brain Anterior Caudate	brain
12	chr7:150596200-150598400	Weak transcription	Fetal Brain Female	brain
13	chr7:150596200-150598600	Weak transcription	K562	blood
14	chr7:150596200-150598800	Weak transcription	Esophagus	oesophagus
15	chr7:150596200-150600600	Weak transcription	HUVEC	blood vessel
16	chr7:150596400-150598400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:150596800-150600200	Enhancers	Fetal Intestine Small	intestine
18	chr7:150597000-150598000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr7:150597000-150599000	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr7:150597200-150598000	Enhancers	Duodenum Mucosa	Duodenum
21	chr7:150597200-150601600	Enhancers	Colonic Mucosa	Colon
22	chr7:150597400-150598200	Bivalent Enhancer	HepG2	liver
23	chr7:150597400-150600000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:150597600-150598400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:150597600-150598800	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr7:150597600-150599000	Enhancers	Liver	Liver
27	chr7:150597600-150599600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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