Variant report

Variant	rs62491495
Chromosome Location	chr7:129487478-129487479
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:129447152..129448781-chr7:129486844..129489628,2	MCF-7	breast:
2	chr7:129469764..129472674-chr7:129485963..129488214,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16873739	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2280680	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3807118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807119	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4728179	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4731633	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4731634	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4731636	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62491490	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62491500	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62491519	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62491520	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62491531	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62491534	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62491535	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62491538	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62491540	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62491541	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129472800-129491400	Weak transcription	Fetal Kidney	kidney
2	chr7:129475000-129534800	Weak transcription	Colonic Mucosa	Colon
3	chr7:129477800-129495400	Weak transcription	HepG2	liver
4	chr7:129477800-129498400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:129479200-129489800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:129479200-129490800	Weak transcription	Liver	Liver
7	chr7:129479200-129490800	Weak transcription	Fetal Intestine Large	intestine
8	chr7:129479200-129495600	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:129479400-129493000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:129479400-129493200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:129479400-129543600	Weak transcription	Thymus	Thymus
12	chr7:129479600-129492600	Weak transcription	Placenta	Placenta
13	chr7:129481200-129490800	Weak transcription	Brain Anterior Caudate	brain
14	chr7:129481200-129491400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr7:129481200-129493000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:129481200-129493000	Weak transcription	Fetal Lung	lung
17	chr7:129481400-129499800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:129481400-129510000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:129483200-129489200	Enhancers	HUVEC	blood vessel
20	chr7:129483400-129488200	Enhancers	Psoas Muscle	Psoas
21	chr7:129483600-129487600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:129483800-129489000	Enhancers	HSMM	muscle
23	chr7:129483800-129489400	Weak transcription	Fetal Intestine Small	intestine
24	chr7:129484000-129488200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:129484000-129489000	Enhancers	NHDF-Ad	bronchial
26	chr7:129484000-129497000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:129484200-129495400	Weak transcription	Fetal Stomach	stomach
28	chr7:129484200-129498600	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:129484200-129503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:129485000-129488200	Enhancers	Left Ventricle	heart
31	chr7:129485200-129491000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:129485400-129491000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:129485400-129498600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:129485400-129503800	Weak transcription	Lung	lung
35	chr7:129485600-129491000	Weak transcription	Brain Substantia Nigra	brain
36	chr7:129485600-129491600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr7:129485600-129493200	Weak transcription	Right Atrium	heart
38	chr7:129485600-129493600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:129485600-129493600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr7:129485600-129493600	Weak transcription	Gastric	stomach
41	chr7:129485600-129495400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:129485600-129495400	Weak transcription	Fetal Thymus	thymus
43	chr7:129485600-129496000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr7:129485600-129502400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:129485800-129488000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:129485800-129490800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr7:129485800-129491200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:129485800-129491400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:129485800-129491800	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:129485800-129493200	Weak transcription	Rectal Smooth Muscle	rectum

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