Variant report

Variant	rs17277296
Chromosome Location	chr5:80377287-80377288
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	chr5:80375500..80378381-chr5:80384547..80387171,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17211233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17212829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17291560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17475899	0.81[GIH][hapmap]
rs2592093	0.82[GIH][hapmap]
rs34118	0.86[GIH][hapmap]
rs6864504	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6882120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72769297	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72769298	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72769300	0.84[EUR][1000 genomes];1.00[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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv830360	chr5:80283278-80446040	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80343200-80394400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:80344800-80382600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:80354200-80382400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:80364200-80384200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:80364200-80386200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:80364600-80382800	Weak transcription	Gastric	stomach
7	chr5:80368800-80384200	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr5:80372000-80379000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr5:80372800-80377600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
10	chr5:80373000-80383600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:80373800-80393600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:80374400-80384800	Strong transcription	HepG2	liver
13	chr5:80374800-80382600	Weak transcription	Fetal Intestine Large	intestine
14	chr5:80375000-80377600	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr5:80375000-80382400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr5:80375000-80382800	Weak transcription	Fetal Intestine Small	intestine
17	chr5:80375000-80382800	Weak transcription	Spleen	Spleen
18	chr5:80375000-80384400	Strong transcription	Primary T cells from cord blood	blood
19	chr5:80375000-80384400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr5:80375000-80422600	Weak transcription	Left Ventricle	heart
21	chr5:80375200-80382800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:80375200-80382800	Weak transcription	Aorta	Aorta
23	chr5:80375200-80401000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:80375400-80382800	Weak transcription	Lung	lung
25	chr5:80375400-80385600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:80375600-80384600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:80375600-80393600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:80375800-80377600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:80375800-80377600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:80375800-80400400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr5:80376000-80377600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:80376000-80378800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:80376200-80377400	Strong transcription	Adipose Nuclei	Adipose
34	chr5:80376200-80378800	Enhancers	Brain Substantia Nigra	brain
35	chr5:80376200-80379000	Enhancers	Brain Angular Gyrus	brain
36	chr5:80376800-80377600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr5:80376800-80377600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:80376800-80382200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:80376800-80382600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:80376800-80388400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr5:80377000-80377400	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr5:80377000-80377400	Active TSS	Brain Cingulate Gyrus	brain
43	chr5:80377000-80377400	Flanking Active TSS	Ovary	ovary
44	chr5:80377000-80377600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:80377000-80377600	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr5:80377000-80377600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr5:80377000-80377600	Bivalent/Poised TSS	Osteobl	bone
48	chr5:80377000-80378400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:80377000-80401000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr5:80377200-80377600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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