Variant report

Variant	rs17211275
Chromosome Location	chr5:80369801-80369802
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	chr5:80357227..80360103-chr5:80369290..80370908,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10514203	0.94[EUR][1000 genomes]
rs13162418	1.00[CEU][hapmap]
rs13170314	1.00[ASN][1000 genomes]
rs13183094	1.00[CEU][hapmap]
rs13183890	1.00[CEU][hapmap]
rs13184251	1.00[CEU][hapmap]
rs13187343	1.00[ASN][1000 genomes]
rs16878414	0.94[EUR][1000 genomes]
rs17210066	1.00[ASN][1000 genomes]
rs36084289	1.00[ASN][1000 genomes]
rs4703823	1.00[ASN][1000 genomes]
rs4704698	1.00[ASN][1000 genomes]
rs4704701	1.00[ASN][1000 genomes]
rs6869328	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888990	1.00[CEU][hapmap]

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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80319600-80374200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:80338200-80370600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:80338200-80376200	Weak transcription	NHLF	lung
4	chr5:80339800-80374200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:80343200-80394400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:80344800-80382600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:80353600-80375400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:80354200-80382400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:80356200-80370400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:80356600-80374600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:80361400-80374200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:80361400-80374600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:80361400-80374600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:80361600-80374200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:80361600-80374200	Weak transcription	Brain Substantia Nigra	brain
16	chr5:80361600-80374600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:80363200-80374600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr5:80364200-80384200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:80364200-80386200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:80364600-80382800	Weak transcription	Gastric	stomach
21	chr5:80364800-80371000	Weak transcription	Right Ventricle	heart
22	chr5:80365000-80370600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:80365200-80374600	Weak transcription	Fetal Intestine Small	intestine
24	chr5:80366200-80374600	Weak transcription	Ovary	ovary
25	chr5:80366600-80370600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:80366800-80374400	Weak transcription	Adipose Nuclei	Adipose
27	chr5:80367200-80370800	Weak transcription	Fetal Lung	lung
28	chr5:80367600-80374600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:80367800-80370600	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:80367800-80371000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:80368000-80371800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:80368000-80374200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr5:80368400-80370600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:80368600-80370000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:80368600-80370800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr5:80368600-80371000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr5:80368600-80371600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr5:80368600-80374600	Strong transcription	Primary T cells from cord blood	blood
39	chr5:80368800-80371200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:80368800-80384200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr5:80369200-80370200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr5:80369200-80373400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:80369400-80371000	Weak transcription	HepG2	liver

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