Variant report

Variant	rs7015319
Chromosome Location	chr8:59507471-59507472
allele	A/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	MAFK	chr8:59507180-59507534	K562	blood:	n/a	n/a
2	STAT3	chr8:59507335-59507530	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr8:59507403-59507587	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr8:59507410-59507610	MCF10A-Er-Src	breast:	n/a	n/a
5	MAFF	chr8:59507257-59507519	K562	blood:	n/a	n/a
6	POLR2A	chr8:59507238-59507601	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr8:59507225-59507530	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr8:59507224-59507567	MCF10A-Er-Src	breast:	n/a	n/a
9	JUN	chr8:59507122-59509264	K562	blood:	n/a	chr8:59508508-59508518 chr8:59508718-59508728 chr8:59508509-59508517 chr8:59508510-59508517 chr8:59508505-59508516 chr8:59508508-59508518 chr8:59508508-59508518 chr8:59508021-59508033 chr8:59508517-59508526 chr8:59508509-59508517 chr8:59508508-59508518
10	CTCF	chr8:59507439-59507473	MCF-7	breast:	n/a	n/a
11	POLR2A	chr8:59507218-59507622	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59507125..59509829-chr8:59569234..59572145,2	MCF-7	breast:

Variant related genes	Relation type
NSMAF	TF binding region
ENSG00000035681	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12545426	0.86[AMR][1000 genomes]
rs12547751	0.90[AMR][1000 genomes]
rs16923629	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34604333	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv890939	chr8:59471187-59544413	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1031537	chr8:59482949-59536971	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:59472800-59515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:59473200-59508600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:59477000-59508200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:59477600-59514200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:59477800-59508800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:59478000-59508200	Strong transcription	Primary B cells from peripheral blood	blood
8	chr8:59478000-59508600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:59478000-59508800	Strong transcription	Fetal Intestine Large	intestine
10	chr8:59479600-59508000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:59480600-59515800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:59483200-59508800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr8:59483800-59528000	Strong transcription	Dnd41	blood
14	chr8:59495200-59512800	Strong transcription	Fetal Muscle Leg	muscle
15	chr8:59496000-59507600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:59496800-59507800	Weak transcription	Small Intestine	intestine
17	chr8:59498600-59511200	Weak transcription	Right Ventricle	heart
18	chr8:59498600-59511800	Weak transcription	Brain Germinal Matrix	brain
19	chr8:59498600-59548400	Weak transcription	Stomach Mucosa	stomach
20	chr8:59500200-59524600	Weak transcription	HepG2	liver
21	chr8:59500600-59521000	Weak transcription	Fetal Heart	heart
22	chr8:59500600-59528800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:59501600-59507800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:59502000-59507600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:59502000-59508000	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr8:59502000-59512800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:59503000-59507800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:59503000-59507800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr8:59503000-59507800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:59503000-59508000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:59503000-59545400	Weak transcription	Esophagus	oesophagus
32	chr8:59504000-59507800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:59504200-59508600	Strong transcription	Fetal Thymus	thymus
34	chr8:59504400-59508400	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:59504400-59509200	Strong transcription	Liver	Liver
36	chr8:59504400-59510200	Strong transcription	Primary T cells from cord blood	blood
37	chr8:59505000-59507600	Strong transcription	Brain Anterior Caudate	brain
38	chr8:59505200-59508000	Strong transcription	Fetal Intestine Small	intestine
39	chr8:59505200-59510200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:59505200-59513000	Strong transcription	Duodenum Mucosa	Duodenum
41	chr8:59505400-59508400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr8:59505400-59508600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:59505400-59513000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr8:59505600-59507800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:59505600-59508000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:59505600-59508200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:59505600-59508200	Strong transcription	Psoas Muscle	Psoas
48	chr8:59505600-59508200	Genic enhancers	Osteobl	bone
49	chr8:59505600-59508400	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr8:59505600-59511000	Strong transcription	Stomach Smooth Muscle	stomach

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