Variant report

Variant	rs62491519
Chromosome Location	chr7:129528036-129528037
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:129524986..129526488-chr7:129526523..129528805,2	K562	blood:

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

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

rs_ID	r²[population]
rs16873739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2280680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3807118	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3807119	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4728179	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4731633	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4731634	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4731636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491490	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62491495	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62491500	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62491520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62491534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62491535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62491538	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62491540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62491541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[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	chr7:129475000-129534800	Weak transcription	Colonic Mucosa	Colon
2	chr7:129479400-129543600	Weak transcription	Thymus	Thymus
3	chr7:129497000-129536800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:129503200-129529000	Weak transcription	Gastric	stomach
5	chr7:129503400-129538400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:129505600-129529600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:129505600-129545600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:129506000-129542800	Weak transcription	Small Intestine	intestine
9	chr7:129509600-129541000	Weak transcription	Spleen	Spleen
10	chr7:129510600-129541000	Weak transcription	Esophagus	oesophagus
11	chr7:129511200-129529000	Weak transcription	Brain Germinal Matrix	brain
12	chr7:129511200-129529600	Weak transcription	Brain Substantia Nigra	brain
13	chr7:129512000-129529600	Weak transcription	Fetal Stomach	stomach
14	chr7:129513200-129548600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:129513800-129529600	Weak transcription	Fetal Intestine Small	intestine
16	chr7:129516000-129529400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:129516200-129529000	Weak transcription	Aorta	Aorta
18	chr7:129516200-129529000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:129516200-129542800	Weak transcription	HSMMtube	muscle
20	chr7:129516200-129584400	Weak transcription	Fetal Brain Male	brain
21	chr7:129516600-129528800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:129517200-129529200	Weak transcription	Fetal Lung	lung
23	chr7:129517400-129543800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:129518000-129529000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:129518000-129537200	Weak transcription	Brain Angular Gyrus	brain
26	chr7:129518000-129537200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:129518000-129545200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:129518200-129529000	Weak transcription	Brain Anterior Caudate	brain
29	chr7:129518200-129529000	Weak transcription	Right Ventricle	heart
30	chr7:129518200-129529200	Weak transcription	Brain Hippocampus Middle	brain
31	chr7:129518200-129542600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr7:129518200-129557200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:129518200-129564600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:129518400-129529000	Weak transcription	Lung	lung
35	chr7:129518400-129529000	Weak transcription	Right Atrium	heart
36	chr7:129518400-129529000	Weak transcription	HepG2	liver
37	chr7:129518400-129529400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr7:129518400-129536200	Weak transcription	Psoas Muscle	Psoas
39	chr7:129518400-129538000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:129519200-129535000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:129519400-129546400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:129519600-129546400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:129520800-129531600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr7:129520800-129535000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:129520800-129535800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr7:129520800-129541400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:129520800-129545600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr7:129520800-129551200	Weak transcription	Placenta	Placenta
49	chr7:129521000-129529000	Weak transcription	GM12878-XiMat	blood
50	chr7:129521000-129529200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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