Variant report

Variant	rs17609515
Chromosome Location	chr8:87557153-87557154
allele	C/T
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	CEBPB	chr8:87557039-87557340	A549	lung:	n/a	chr8:87557175-87557188 chr8:87557175-87557188 chr8:87557177-87557188 chr8:87557175-87557188 chr8:87557175-87557186
2	CEBPB	chr8:87557035-87557350	HepG2	liver:	n/a	chr8:87557175-87557188 chr8:87557175-87557188 chr8:87557177-87557188 chr8:87557175-87557188 chr8:87557175-87557186
3	CEBPB	chr8:87557033-87557348	IMR90	lung:	n/a	chr8:87557175-87557188 chr8:87557175-87557188 chr8:87557177-87557188 chr8:87557175-87557188 chr8:87557175-87557186

No.	Distal block	Cell Line	Cell type
1	chr8:87519168..87522025-chr8:87556518..87558633,2	MCF-7	breast:
2	chr8:87526686..87529594-chr8:87554156..87558749,4	MCF-7	breast:
3	chr8:87525283..87528783-chr8:87553365..87557961,4	MCF-7	breast:

Variant related genes	Relation type
CPNE3	TF binding region
ENSG00000176623	Chromatin interaction
ENSG00000085719	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10099858	0.89[CEU][hapmap]
rs17609487	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17682647	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2119537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688597	0.93[AMR][1000 genomes]
rs72688599	0.93[AMR][1000 genomes]
rs72688600	0.93[AMR][1000 genomes]
rs72688602	0.93[AMR][1000 genomes]
rs72690405	0.93[AMR][1000 genomes]
rs72690406	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72690409	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72690411	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72690412	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72690413	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72690414	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72690415	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72690418	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72690421	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72690423	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72690424	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72690427	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72690429	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72690431	0.89[EUR][1000 genomes]
rs72690432	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690438	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72690440	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72690441	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72690444	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72690446	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72690449	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72690456	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72690458	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72690467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87527400-87568400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87527600-87562000	Weak transcription	Pancreas	Pancrea
3	chr8:87527600-87568200	Weak transcription	Gastric	stomach
4	chr8:87527600-87584000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:87527800-87560000	Weak transcription	HSMMtube	muscle
6	chr8:87528000-87563800	Weak transcription	Hela-S3	cervix
7	chr8:87528000-87573600	Weak transcription	Stomach Mucosa	stomach
8	chr8:87528200-87572000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:87528400-87560400	Weak transcription	Thymus	Thymus
10	chr8:87528600-87557200	Weak transcription	Small Intestine	intestine
11	chr8:87528600-87566000	Weak transcription	Spleen	Spleen
12	chr8:87536000-87559400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:87539600-87560200	Weak transcription	Lung	lung
14	chr8:87541600-87563800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr8:87541600-87570600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:87542000-87558800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:87543200-87571200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:87543200-87572600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:87543400-87568800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:87543800-87560000	Weak transcription	Esophagus	oesophagus
21	chr8:87545000-87571400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:87545000-87576800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr8:87546400-87569400	Strong transcription	NHDF-Ad	bronchial
24	chr8:87546600-87557200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:87546600-87557200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:87546600-87570200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:87546600-87570800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:87547800-87563200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:87548400-87569400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:87548800-87573400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:87549000-87572600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr8:87549200-87568200	Weak transcription	K562	blood
33	chr8:87549800-87557200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:87549800-87566000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:87550600-87560400	Weak transcription	Aorta	Aorta
36	chr8:87550600-87569800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:87550800-87560400	Weak transcription	Fetal Stomach	stomach
38	chr8:87551000-87559400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr8:87551200-87557200	Weak transcription	Brain Angular Gyrus	brain
40	chr8:87551200-87557200	Weak transcription	Brain Substantia Nigra	brain
41	chr8:87551200-87557200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr8:87551200-87559400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr8:87551200-87559600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:87551200-87568200	Weak transcription	Psoas Muscle	Psoas
45	chr8:87551400-87557200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:87551600-87559600	Weak transcription	HepG2	liver
47	chr8:87551600-87560000	Weak transcription	Right Ventricle	heart
48	chr8:87552200-87561800	Weak transcription	Fetal Intestine Small	intestine
49	chr8:87552600-87557200	Weak transcription	Fetal Brain Male	brain
50	chr8:87552600-87575000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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