Variant report

Variant	rs6859306
Chromosome Location	chr5:80511489-80511490
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	chr17:58001323..58002216-chr5:80511299..80512148,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10036376	1.00[JPT][hapmap]
rs10514215	1.00[JPT][hapmap]
rs13184427	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs13187211	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16878538	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16878563	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16878572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17294956	1.00[JPT][hapmap]
rs2270825	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2406555	0.82[AMR][1000 genomes]
rs34198027	0.88[AMR][1000 genomes]
rs34378267	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34755999	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35646117	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35813740	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35926115	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6899067	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs750728	1.00[JPT][hapmap]
rs7725743	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs976741	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[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	nsv598750	chr5:80503528-80599578	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80464200-80528400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:80465200-80528200	Weak transcription	Ovary	ovary
3	chr5:80466000-80512600	Weak transcription	Gastric	stomach
4	chr5:80485200-80516200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:80491000-80520200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:80491000-80528400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:80491200-80530000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:80491400-80528400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:80492000-80528600	Weak transcription	Left Ventricle	heart
10	chr5:80496600-80513200	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr5:80497000-80517000	Weak transcription	Right Atrium	heart
12	chr5:80498000-80528800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:80498800-80530000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:80504400-80512200	Weak transcription	Right Ventricle	heart
15	chr5:80505400-80527800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:80506000-80525400	Weak transcription	Brain Angular Gyrus	brain
17	chr5:80506000-80530000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:80506200-80520400	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:80506400-80528000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:80507600-80528200	Weak transcription	HepG2	liver
21	chr5:80508000-80520400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr5:80509000-80528400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:80509200-80512200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:80509200-80528800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr5:80509400-80530000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:80509600-80518400	Weak transcription	Fetal Intestine Small	intestine
27	chr5:80509800-80520000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:80510600-80515200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr5:80510600-80521200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr5:80510600-80528800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:80510800-80514800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr5:80510800-80521600	Weak transcription	Adipose Nuclei	Adipose
33	chr5:80511000-80514600	Weak transcription	Primary T cells from cord blood	blood
34	chr5:80511400-80513600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:80511400-80515000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:80511400-80515400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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