Variant report

Variant	rs6869328
Chromosome Location	chr5:80381164-80381165
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80378786..80381593-chr5:80468585..80470537,2	K562	blood:
2	chr5:80380866..80382629-chr5:80384127..80386133,3	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	0.81[EUR][1000 genomes]
rs13162418	0.82[CEU][hapmap]
rs13170314	1.00[ASN][1000 genomes]
rs13183094	0.82[CEU][hapmap]
rs13183890	0.82[CEU][hapmap]
rs13184251	0.82[CEU][hapmap]
rs13187343	1.00[ASN][1000 genomes]
rs16878414	0.86[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs17210066	1.00[ASN][1000 genomes]
rs17211275	0.86[EUR][1000 genomes];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]
rs6888990	0.82[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:53 , 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	chr5:80373000-80383600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:80373800-80393600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:80374400-80384800	Strong transcription	HepG2	liver
11	chr5:80374800-80382600	Weak transcription	Fetal Intestine Large	intestine
12	chr5:80375000-80382400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:80375000-80382800	Weak transcription	Fetal Intestine Small	intestine
14	chr5:80375000-80382800	Weak transcription	Spleen	Spleen
15	chr5:80375000-80384400	Strong transcription	Primary T cells from cord blood	blood
16	chr5:80375000-80384400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr5:80375000-80422600	Weak transcription	Left Ventricle	heart
18	chr5:80375200-80382800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:80375200-80382800	Weak transcription	Aorta	Aorta
20	chr5:80375200-80401000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:80375400-80382800	Weak transcription	Lung	lung
22	chr5:80375400-80385600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:80375600-80384600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr5:80375600-80393600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:80375800-80400400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr5:80376800-80382200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:80376800-80382600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:80376800-80388400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:80377000-80401000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr5:80377200-80381800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:80377200-80382400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:80377200-80382600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr5:80377200-80382600	Weak transcription	NHLF	lung
34	chr5:80377200-80384000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:80377400-80381600	Weak transcription	Adipose Nuclei	Adipose
36	chr5:80377600-80381200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:80377600-80381400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr5:80377600-80381800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr5:80377600-80382600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:80377600-80382800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:80377600-80384400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:80377600-80389800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr5:80378200-80382400	Weak transcription	Ovary	ovary
44	chr5:80378200-80382800	Weak transcription	Brain Anterior Caudate	brain
45	chr5:80378800-80382600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr5:80378800-80382600	Weak transcription	Brain Substantia Nigra	brain
47	chr5:80379000-80382000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr5:80379000-80382000	Weak transcription	Brain Angular Gyrus	brain
49	chr5:80379600-80384200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:80379800-80382600	Weak transcription	Brain Cingulate Gyrus	brain

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