Variant report

Variant	rs8029780
Chromosome Location	chr15:75758397-75758398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75756995..75759766-chr15:75760306..75762971,3	K562	blood:
2	chr15:75659818..75661978-chr15:75758002..75760294,2	K562	blood:
3	chr15:75752352..75754092-chr15:75757674..75759732,2	MCF-7	breast:
4	chr15:75756960..75758581-chr15:75761852..75764681,2	K562	blood:

Variant related genes	Relation type
ENSG00000140400	Chromatin interaction
ENSG00000169410	Chromatin interaction
ENSG00000260274	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs7168055	1.00[AMR][1000 genomes]
rs7172092	1.00[AMR][1000 genomes]
rs7178526	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8024290	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs8024614	0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
6	nsv482802	chr15:75686519-75899896	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
8	nsv904387	chr15:75706296-75806911	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv531902	chr15:75724505-75919237	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
10	nsv904388	chr15:75730182-75804543	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	nsv904389	chr15:75739824-75806911	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75748600-75759000	Weak transcription	Gastric	stomach
2	chr15:75748800-75758600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:75748800-75760000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:75748800-75760800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:75749000-75758400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr15:75749000-75758600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr15:75749000-75758600	Weak transcription	Esophagus	oesophagus
8	chr15:75749000-75758600	Weak transcription	Right Ventricle	heart
9	chr15:75749000-75758800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr15:75749000-75759800	Weak transcription	Brain Substantia Nigra	brain
11	chr15:75749000-75760800	Weak transcription	Fetal Brain Male	brain
12	chr15:75749000-75761000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr15:75749000-75797800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr15:75749200-75758400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:75749200-75758600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr15:75749200-75758800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr15:75749200-75759800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr15:75749200-75760000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr15:75749200-75760600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr15:75749200-75760600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr15:75749200-75760800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr15:75749200-75776800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr15:75749200-75782000	Weak transcription	Right Atrium	heart
24	chr15:75749400-75758400	Weak transcription	Fetal Lung	lung
25	chr15:75749400-75758600	Weak transcription	Spleen	Spleen
26	chr15:75749400-75758800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr15:75749600-75758600	Weak transcription	HMEC	breast
28	chr15:75749600-75759600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr15:75749600-75759600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr15:75749600-75760200	Weak transcription	Pancreas	Pancrea
31	chr15:75750200-75759000	Weak transcription	Hela-S3	cervix
32	chr15:75750200-75761000	Weak transcription	K562	blood
33	chr15:75751000-75758400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:75751000-75758600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:75753000-75758600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:75753200-75760200	Weak transcription	Ovary	ovary
37	chr15:75753400-75758800	Weak transcription	Small Intestine	intestine
38	chr15:75753400-75760000	Weak transcription	Fetal Kidney	kidney
39	chr15:75753600-75760200	Weak transcription	Stomach Mucosa	stomach
40	chr15:75754400-75760200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:75754400-75770800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr15:75754600-75758400	Weak transcription	HepG2	liver
43	chr15:75755000-75758400	Weak transcription	Placenta	Placenta
44	chr15:75755200-75763800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:75755200-75772400	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr15:75755200-75772400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:75755200-75772600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:75755400-75758600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr15:75755400-75758800	Weak transcription	Aorta	Aorta
50	chr15:75755400-75759600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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