Variant report

Variant	rs62491533
Chromosome Location	chr7:129564134-129564135
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129563668..129568192-chr7:129591513..129594464,5	K562	blood:
2	chr7:129564058..129565620-chr7:129567153..129569978,2	K562	blood:
3	chr7:129562159..129565168-chr7:129590778..129594464,4	K562	blood:
4	chr7:129552819..129555561-chr7:129563082..129564976,2	K562	blood:
5	chr7:129554834..129557816-chr7:129564035..129566068,2	MCF-7	breast:
6	chr7:129552819..129554448-chr7:129562935..129564976,2	K562	blood:
7	chr7:129559119..129562737-chr7:129563005..129568178,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000186591	Chromatin interaction
ENSG00000244036	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12533468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3807121	0.92[ASN][1000 genomes]
rs3817530	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4728180	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4731638	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56222328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62489376	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62489377	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62489378	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62489379	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62489381	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62489382	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62491539	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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:122 , 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	chr7:129518200-129564600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:129530000-129587600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:129547400-129576800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:129549200-129586800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:129549400-129580200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:129549800-129572800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:129549800-129577800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:129549800-129588200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:129552400-129564600	Weak transcription	HMEC	breast
11	chr7:129553200-129570000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:129554000-129573800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:129555200-129587000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:129555600-129564600	Weak transcription	K562	blood
15	chr7:129556600-129565200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:129556600-129572800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:129556600-129579000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:129556600-129588000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:129557400-129566800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:129557400-129587000	Weak transcription	Fetal Lung	lung
21	chr7:129557600-129565400	Weak transcription	Brain Angular Gyrus	brain
22	chr7:129557800-129565400	Weak transcription	Fetal Kidney	kidney
23	chr7:129557800-129565400	Weak transcription	Right Atrium	heart
24	chr7:129557800-129572800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:129558000-129564800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:129558000-129565400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:129558000-129569200	Weak transcription	Fetal Brain Female	brain
28	chr7:129558000-129570000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:129558000-129573400	Weak transcription	HSMMtube	muscle
30	chr7:129558000-129580200	Weak transcription	Aorta	Aorta
31	chr7:129558000-129584600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:129558000-129587600	Weak transcription	Brain Germinal Matrix	brain
33	chr7:129558200-129564600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:129558200-129565000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:129558200-129572800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr7:129558600-129565400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr7:129558800-129565400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:129559000-129564600	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:129559600-129564600	Weak transcription	Fetal Thymus	thymus
40	chr7:129559600-129565400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:129559600-129576400	Weak transcription	Thymus	Thymus
42	chr7:129559600-129578800	Weak transcription	Pancreas	Pancrea
43	chr7:129559600-129580200	Weak transcription	Gastric	stomach
44	chr7:129559600-129580200	Weak transcription	Ovary	ovary
45	chr7:129559600-129581200	Weak transcription	Lung	lung
46	chr7:129559600-129588000	Weak transcription	Esophagus	oesophagus
47	chr7:129559800-129564600	Weak transcription	Liver	Liver
48	chr7:129559800-129565400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:129559800-129588600	Weak transcription	Colonic Mucosa	Colon
50	chr7:129560000-129564600	Weak transcription	HepG2	liver

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