Variant report

Variant	rs58857902
Chromosome Location	chr7:129495866-129495867
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	chr7:129493067..129496024-chr7:129500943..129503078,3	K562	blood:
2	chr7:129493067..129496024-chr7:129500943..129503078,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10216157	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10240142	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10242002	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10246707	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10249037	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10253233	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10261367	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10273782	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1046691	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10500121	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1526323	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17162050	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17162123	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17162136	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17162295	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17639187	0.82[ASN][1000 genomes]
rs2037720	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28604351	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62489374	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62489375	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62491492	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62491503	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62491504	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62491537	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6467267	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6959075	0.81[AFR][1000 genomes]
rs6962745	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6979056	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73161641	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7789336	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7801603	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7803795	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9656386	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[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:120 , 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	chr7:129477800-129498400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:129479400-129543600	Weak transcription	Thymus	Thymus
4	chr7:129481400-129499800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:129481400-129510000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:129484000-129497000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:129484200-129498600	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:129484200-129503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:129485400-129498600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:129485400-129503800	Weak transcription	Lung	lung
11	chr7:129485600-129496000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:129485600-129502400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:129486400-129502400	Weak transcription	Esophagus	oesophagus
14	chr7:129486400-129505400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:129486600-129501400	Weak transcription	Right Ventricle	heart
16	chr7:129486800-129499200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr7:129487200-129502400	Weak transcription	Ovary	ovary
18	chr7:129488200-129499600	Weak transcription	Left Ventricle	heart
19	chr7:129488600-129496000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:129488600-129496400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:129490800-129496000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr7:129491600-129510000	Weak transcription	Fetal Intestine Large	intestine
23	chr7:129491800-129502000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:129492000-129497000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:129492000-129498800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:129492000-129499400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:129492000-129501200	Weak transcription	Stomach Mucosa	stomach
28	chr7:129492000-129509200	Weak transcription	Fetal Intestine Small	intestine
29	chr7:129492200-129496800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:129492200-129499200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:129492200-129501800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:129492200-129502400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:129492600-129502400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr7:129492800-129496400	Enhancers	Fetal Brain Female	brain
35	chr7:129492800-129496800	Enhancers	NHLF	lung
36	chr7:129493000-129500800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:129493200-129497600	Strong transcription	Primary B cells from cord blood	blood
38	chr7:129493400-129496200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr7:129493400-129496800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:129493600-129496800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:129493800-129498200	Weak transcription	Brain Substantia Nigra	brain
42	chr7:129493800-129499600	Weak transcription	Spleen	Spleen
43	chr7:129493800-129502400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:129493800-129502400	Weak transcription	HSMMtube	muscle
45	chr7:129493800-129510400	Weak transcription	Brain Germinal Matrix	brain
46	chr7:129494000-129496000	Enhancers	Liver	Liver
47	chr7:129494000-129496000	Weak transcription	Psoas Muscle	Psoas
48	chr7:129494000-129496000	Weak transcription	K562	blood
49	chr7:129494000-129497000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:129494000-129497600	Weak transcription	Primary monocytes fromperipheralblood	blood

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