Variant report

Variant	rs62491538
Chromosome Location	chr7:129576181-129576182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129571288..129573143-chr7:129575394..129577004,2	MCF-7	breast:
2	chr7:129575738..129578941-chr7:129585169..129588929,4	K562	blood:
3	chr7:129573624..129576987-chr7:129579188..129581897,3	K562	blood:
4	chr7:129574249..129576849-chr7:129590844..129592389,2	K562	blood:

Variant related genes	Relation type
ENSG00000186591	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16873739	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2280680	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3807118	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3807119	0.90[AMR][1000 genomes]
rs4728179	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4731633	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4731634	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4731636	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62491490	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62491495	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62491500	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62491519	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62491520	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62491531	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62491534	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62491535	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62491540	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62491541	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129516200-129584400	Weak transcription	Fetal Brain Male	brain
2	chr7:129530000-129587600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:129547400-129576800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:129549200-129586800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:129549400-129580200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:129549800-129577800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:129549800-129588200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:129555200-129587000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:129556600-129579000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:129556600-129588000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:129557400-129587000	Weak transcription	Fetal Lung	lung
12	chr7:129558000-129580200	Weak transcription	Aorta	Aorta
13	chr7:129558000-129584600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:129558000-129587600	Weak transcription	Brain Germinal Matrix	brain
15	chr7:129559600-129576400	Weak transcription	Thymus	Thymus
16	chr7:129559600-129578800	Weak transcription	Pancreas	Pancrea
17	chr7:129559600-129580200	Weak transcription	Gastric	stomach
18	chr7:129559600-129580200	Weak transcription	Ovary	ovary
19	chr7:129559600-129581200	Weak transcription	Lung	lung
20	chr7:129559600-129588000	Weak transcription	Esophagus	oesophagus
21	chr7:129559800-129588600	Weak transcription	Colonic Mucosa	Colon
22	chr7:129564000-129580200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:129564200-129577200	Weak transcription	HSMM	muscle
24	chr7:129564400-129586800	Weak transcription	A549	lung
25	chr7:129564800-129580200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:129564800-129580200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:129564800-129580200	Weak transcription	Small Intestine	intestine
28	chr7:129565200-129587400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr7:129565400-129587400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:129565600-129586400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr7:129565600-129587600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:129565600-129588200	Weak transcription	HMEC	breast
33	chr7:129565800-129579000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:129565800-129579000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:129565800-129580000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:129565800-129580200	Weak transcription	Right Ventricle	heart
37	chr7:129565800-129580200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:129565800-129580200	Weak transcription	Spleen	Spleen
39	chr7:129565800-129580200	Weak transcription	HepG2	liver
40	chr7:129565800-129584400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:129565800-129586600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:129565800-129586800	Weak transcription	Brain Anterior Caudate	brain
43	chr7:129565800-129587000	Weak transcription	NH-A	brain
44	chr7:129565800-129587400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:129565800-129587600	Weak transcription	Brain Angular Gyrus	brain
46	chr7:129565800-129588200	Weak transcription	HUVEC	blood vessel
47	chr7:129566000-129577200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:129566000-129579000	Weak transcription	Fetal Heart	heart
49	chr7:129566000-129579200	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:129566000-129580000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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