Variant report

Variant	rs57569962
Chromosome Location	chr8:59762562-59762563
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	chr8:59757012..59762726-chr8:59763817..59766643,5	K562	blood:

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10504264	0.85[ASN][1000 genomes]
rs16924095	0.85[ASN][1000 genomes]
rs16924124	0.85[ASN][1000 genomes]
rs2122015	0.85[ASN][1000 genomes]
rs3779998	0.91[ASN][1000 genomes]
rs3779999	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57636927	0.85[ASN][1000 genomes]
rs61049278	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471753	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992462	1.00[EUR][1000 genomes]
rs6999284	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008234	0.85[ASN][1000 genomes]
rs73243052	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73243060	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243092	0.85[ASN][1000 genomes]
rs73249047	0.85[ASN][1000 genomes]
rs73249050	0.80[ASN][1000 genomes]
rs7820385	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826293	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59720800-59762600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:59730800-59770800	Strong transcription	Fetal Thymus	thymus
3	chr8:59745600-59770800	Weak transcription	Fetal Kidney	kidney
4	chr8:59745800-59770800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:59746400-59773200	Weak transcription	Fetal Intestine Small	intestine
6	chr8:59746600-59763600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr8:59746800-59763600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:59747400-59770800	Weak transcription	Pancreas	Pancrea
9	chr8:59749200-59762600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:59750800-59762600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:59750800-59771000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:59751000-59763400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:59753600-59762600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:59754000-59762600	Weak transcription	Thymus	Thymus
15	chr8:59755000-59762600	Weak transcription	NHLF	lung
16	chr8:59755400-59762600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:59755400-59762800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:59755400-59762800	Weak transcription	Gastric	stomach
19	chr8:59755600-59770400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:59755800-59772200	Weak transcription	Small Intestine	intestine
21	chr8:59756800-59762800	Weak transcription	Fetal Stomach	stomach
22	chr8:59757800-59762600	Weak transcription	Fetal Intestine Large	intestine
23	chr8:59757800-59762600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:59758400-59768600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:59758400-59777400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:59758600-59762800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:59759000-59762600	Weak transcription	Esophagus	oesophagus
28	chr8:59759400-59762600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:59759600-59762800	Weak transcription	Fetal Lung	lung
30	chr8:59759600-59770200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:59760000-59762600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr8:59760400-59764400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:59760400-59770800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:59760600-59762800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:59760600-59764200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:59760800-59764400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:59761000-59762800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:59761000-59777200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:59761200-59770800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:59761600-59762600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:59761600-59764200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:59761600-59764600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:59761600-59769000	Strong transcription	Dnd41	blood
44	chr8:59761800-59762600	Enhancers	NHEK	skin
45	chr8:59761800-59764200	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:59761800-59764400	Enhancers	HUVEC	blood vessel
47	chr8:59761800-59764600	Strong transcription	Primary hematopoietic stem cells	blood
48	chr8:59762000-59762800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:59762000-59770800	Weak transcription	Colon Smooth Muscle	Colon
50	chr8:59762200-59763800	Flanking Active TSS	A549	lung

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