Variant report

Variant	rs17805852
Chromosome Location	chr8:117697921-117697922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117697505..117699043-chr8:117703582..117706384,2	K562	blood:
2	chr8:117696331..117699023-chr8:117777229..117780131,3	K562	blood:
3	chr8:117686959..117689799-chr8:117696195..117697939,2	MCF-7	breast:
4	chr8:117695254..117697926-chr8:117699947..117701822,2	K562	blood:
5	chr8:117694279..117697121-chr8:117697195..117699219,2	K562	blood:

Variant related genes	Relation type
ENSG00000147679	Chromatin interaction
ENSG00000147677	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12548885	1.00[AFR][1000 genomes]
rs16888870	1.00[AFR][1000 genomes]
rs2921775	1.00[AFR][1000 genomes]
rs2921780	1.00[AFR][1000 genomes]
rs2921781	1.00[AFR][1000 genomes]
rs2921786	1.00[AFR][1000 genomes]
rs2921789	1.00[AFR][1000 genomes]
rs2921791	1.00[AFR][1000 genomes]
rs3020109	1.00[AFR][1000 genomes]
rs3020124	1.00[AFR][1000 genomes]
rs62510172	0.92[EUR][1000 genomes]
rs62510184	1.00[EUR][1000 genomes]
rs62510188	1.00[EUR][1000 genomes]
rs62510189	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62510193	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72683604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117654600-117715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:117659000-117698000	Weak transcription	Hela-S3	cervix
3	chr8:117666000-117699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:117667000-117699200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:117668200-117707000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:117670200-117707000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:117671000-117717600	Weak transcription	HepG2	liver
8	chr8:117674800-117706800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr8:117677400-117699200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr8:117678200-117700600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:117678200-117705600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:117679000-117703200	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:117681200-117698000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr8:117682800-117698600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:117682800-117703400	Weak transcription	Primary T cells from cord blood	blood
16	chr8:117682800-117707400	Weak transcription	Right Atrium	heart
17	chr8:117684000-117698600	Weak transcription	Fetal Stomach	stomach
18	chr8:117684000-117698800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:117684200-117700400	Weak transcription	K562	blood
20	chr8:117685200-117698800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:117685400-117707200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:117686200-117703200	Weak transcription	GM12878-XiMat	blood
23	chr8:117690000-117698800	Weak transcription	Fetal Kidney	kidney
24	chr8:117690000-117707000	Weak transcription	Primary B cells from cord blood	blood
25	chr8:117693400-117700000	Weak transcription	Fetal Intestine Small	intestine
26	chr8:117694600-117703200	Weak transcription	Brain Substantia Nigra	brain
27	chr8:117695400-117699400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:117695600-117704400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:117695600-117707600	Weak transcription	Dnd41	blood
30	chr8:117695800-117698800	Weak transcription	Left Ventricle	heart
31	chr8:117696400-117698800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:117696600-117698200	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr8:117696800-117698400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:117696800-117700600	Enhancers	HUVEC	blood vessel
35	chr8:117697000-117698200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:117697000-117701000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr8:117697000-117704800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr8:117697200-117701400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:117697200-117701400	Enhancers	Fetal Heart	heart
40	chr8:117697200-117701600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:117697200-117702400	Weak transcription	Brain Anterior Caudate	brain
42	chr8:117697400-117698000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:117697400-117698000	Enhancers	Brain Cingulate Gyrus	brain
44	chr8:117697400-117698200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:117697400-117698200	Enhancers	Gastric	stomach
46	chr8:117697400-117698400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:117697400-117698400	Flanking Active TSS	Fetal Lung	lung
48	chr8:117697400-117698400	Enhancers	NHDF-Ad	bronchial
49	chr8:117697400-117699000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr8:117697400-117699400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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