Variant report

Variant	rs8039298
Chromosome Location	chr15:40703690-40703691
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40703661-40704420	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:40703367-40704280	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40702415..40703948-chr15:40706457..40708796,2	K562	blood:
2	chr15:40702565..40704374-chr15:40706518..40708140,2	MCF-7	breast:
3	chr15:40657809..40661993-chr15:40702342..40704983,3	K562	blood:
4	chr15:40698036..40700084-chr15:40700377..40704412,6	MCF-7	breast:

Variant related genes	Relation type
IVD	TF binding region
ENSG00000259368	Chromatin interaction
ENSG00000128928	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11070255	1.00[EUR][1000 genomes]
rs12385956	1.00[EUR][1000 genomes]
rs13380241	1.00[EUR][1000 genomes]
rs14363	1.00[EUR][1000 genomes]
rs1494534	1.00[EUR][1000 genomes]
rs1801528	1.00[EUR][1000 genomes]
rs1869906	1.00[EUR][1000 genomes]
rs28565228	1.00[EUR][1000 genomes]
rs28637697	1.00[EUR][1000 genomes]
rs28657938	1.00[EUR][1000 genomes]
rs28750294	1.00[EUR][1000 genomes]
rs34268290	1.00[AMR][1000 genomes]
rs35611758	1.00[EUR][1000 genomes]
rs55984256	1.00[EUR][1000 genomes]
rs56010221	1.00[EUR][1000 genomes]
rs56020318	1.00[EUR][1000 genomes]
rs56908156	1.00[EUR][1000 genomes]
rs57134155	1.00[EUR][1000 genomes]
rs58042425	1.00[EUR][1000 genomes]
rs58584688	1.00[EUR][1000 genomes]
rs58870954	1.00[EUR][1000 genomes]
rs58903833	1.00[EUR][1000 genomes]
rs61579851	1.00[EUR][1000 genomes]
rs61678895	1.00[EUR][1000 genomes]
rs6492943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6492946	1.00[EUR][1000 genomes]
rs6492948	1.00[EUR][1000 genomes]
rs6492949	1.00[EUR][1000 genomes]
rs7162308	1.00[EUR][1000 genomes]
rs7164094	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7164281	1.00[EUR][1000 genomes]
rs7165233	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7165670	1.00[EUR][1000 genomes]
rs7168197	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168416	1.00[EUR][1000 genomes]
rs7173079	1.00[EUR][1000 genomes]
rs7173239	1.00[EUR][1000 genomes]
rs7175153	1.00[EUR][1000 genomes]
rs7176418	1.00[EUR][1000 genomes]
rs7182052	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73383123	1.00[EUR][1000 genomes]
rs73383129	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385112	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385114	1.00[EUR][1000 genomes]
rs73389487	1.00[EUR][1000 genomes]
rs73389489	1.00[EUR][1000 genomes]
rs73389492	1.00[EUR][1000 genomes]
rs73390187	1.00[EUR][1000 genomes]
rs74011172	1.00[EUR][1000 genomes]
rs74011173	1.00[EUR][1000 genomes]
rs74011174	1.00[EUR][1000 genomes]
rs8023956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8025846	1.00[EUR][1000 genomes]
rs8033915	1.00[EUR][1000 genomes]
rs8034169	1.00[EUR][1000 genomes]
rs8037881	1.00[EUR][1000 genomes]
rs8038243	1.00[EUR][1000 genomes]
rs8040231	1.00[EUR][1000 genomes]
rs8364	1.00[EUR][1000 genomes]
rs9672591	1.00[EUR][1000 genomes]
rs9672893	1.00[AMR][1000 genomes];1.00[EUR][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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 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	chr15:40698600-40712400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:40698800-40707000	Weak transcription	Psoas Muscle	Psoas
3	chr15:40698800-40707600	Weak transcription	NHEK	skin
4	chr15:40698800-40709600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr15:40699000-40714000	Weak transcription	Small Intestine	intestine
6	chr15:40699600-40704400	Strong transcription	Adipose Nuclei	Adipose
7	chr15:40699600-40704400	Strong transcription	Fetal Intestine Small	intestine
8	chr15:40699600-40704600	Strong transcription	Fetal Lung	lung
9	chr15:40699600-40710000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr15:40699600-40710800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:40699600-40710800	Strong transcription	Primary T cells from cord blood	blood
12	chr15:40699600-40711000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr15:40699600-40711000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr15:40699600-40711000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:40699600-40711200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr15:40699600-40712400	Weak transcription	Right Atrium	heart
17	chr15:40699600-40714000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr15:40699800-40704400	Strong transcription	Fetal Intestine Large	intestine
19	chr15:40699800-40709000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
20	chr15:40699800-40709200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:40699800-40709200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:40699800-40710800	Strong transcription	NHLF	lung
23	chr15:40699800-40711000	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr15:40699800-40711000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:40699800-40711000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:40699800-40711000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr15:40699800-40711000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:40699800-40711000	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr15:40699800-40711000	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr15:40699800-40711000	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr15:40699800-40711000	Strong transcription	Osteobl	bone
32	chr15:40699800-40711400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr15:40699800-40712400	Strong transcription	Fetal Stomach	stomach
34	chr15:40700000-40703800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr15:40700000-40704200	Strong transcription	Colonic Mucosa	Colon
36	chr15:40700000-40705800	Strong transcription	NHDF-Ad	bronchial
37	chr15:40700000-40708400	Strong transcription	Rectal Smooth Muscle	rectum
38	chr15:40700000-40710600	Strong transcription	HSMM	muscle
39	chr15:40700000-40710800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr15:40700000-40710800	Strong transcription	Fetal Thymus	thymus
41	chr15:40700000-40711000	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr15:40700000-40711000	Strong transcription	Left Ventricle	heart
43	chr15:40700000-40711000	Strong transcription	Lung	lung
44	chr15:40700000-40711400	Strong transcription	Fetal Muscle Leg	muscle
45	chr15:40700000-40711800	Strong transcription	Thymus	Thymus
46	chr15:40700000-40712200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:40700000-40712600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:40700200-40706800	Weak transcription	Fetal Heart	heart
49	chr15:40700200-40710800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr15:40700200-40711000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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