Variant report

Variant	rs2513809
Chromosome Location	chr8:99037162-99037163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99035833..99038381-chr8:99052639..99054703,2	K562	blood:

Variant related genes	Relation type
ENSG00000245970	Chromatin interaction
ENSG00000207067	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1466428	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs1965914	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2034779	0.85[JPT][hapmap]
rs2248014	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2255464	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2444873	0.85[ASN][1000 genomes]
rs2444892	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2513810	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2513811	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99008400-99045000	Weak transcription	Colonic Mucosa	Colon
2	chr8:99021200-99053600	Weak transcription	A549	lung
3	chr8:99021400-99043800	Weak transcription	Brain Germinal Matrix	brain
4	chr8:99022400-99055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:99023800-99041200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:99024000-99044000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:99024000-99054800	Weak transcription	Right Ventricle	heart
8	chr8:99024200-99042800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:99024200-99055000	Weak transcription	Fetal Brain Male	brain
10	chr8:99024200-99056000	Weak transcription	Spleen	Spleen
11	chr8:99025000-99052800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:99025200-99045400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:99025400-99045200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:99027600-99037400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:99027600-99045400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:99028800-99045400	Weak transcription	Fetal Brain Female	brain
17	chr8:99029000-99053600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:99030000-99045000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:99030000-99045200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr8:99030400-99037400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:99030400-99043200	Weak transcription	Esophagus	oesophagus
22	chr8:99030600-99042600	Weak transcription	Placenta	Placenta
23	chr8:99030600-99053400	Weak transcription	Pancreas	Pancrea
24	chr8:99030600-99056800	Weak transcription	Aorta	Aorta
25	chr8:99030800-99046400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:99031000-99055400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:99032000-99044200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:99032200-99045800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:99032400-99043200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:99032400-99043200	Weak transcription	Dnd41	blood
31	chr8:99032400-99046800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr8:99033000-99044000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr8:99033600-99039800	Weak transcription	NHLF	lung
34	chr8:99033600-99044000	Weak transcription	Fetal Thymus	thymus
35	chr8:99033600-99045400	Weak transcription	HSMM	muscle
36	chr8:99033800-99037200	Weak transcription	Ovary	ovary
37	chr8:99033800-99037200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr8:99033800-99037400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:99033800-99039200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:99033800-99041200	Weak transcription	Psoas Muscle	Psoas
41	chr8:99033800-99043400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:99033800-99043400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:99033800-99043400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr8:99033800-99043600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr8:99033800-99043800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr8:99033800-99044000	Weak transcription	HSMMtube	muscle
47	chr8:99033800-99044000	Weak transcription	NHDF-Ad	bronchial
48	chr8:99033800-99044400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr8:99033800-99045600	Weak transcription	Thymus	Thymus
50	chr8:99033800-99045600	Weak transcription	HMEC	breast

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