Variant report

Variant	rs870714
Chromosome Location	chr4:7981238-7981239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7973238..7976056-chr4:7980066..7981632,2	MCF-7	breast:
2	chr4:7943913..7945893-chr4:7981237..7983380,2	MCF-7	breast:
3	chr4:7972595..7975049-chr4:7979721..7982181,5	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12644609	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1317282	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16841523	0.85[YRI][hapmap]
rs1878323	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2386052	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6447897	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7654924	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7677869	0.83[CEU][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv829851	chr4:7958698-8049060	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv878579	chr4:7969594-8011696	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs870714	S100P	cis	cerebellum	SCAN
rs870714	ZNF518B	cis	parietal	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7967000-7987600	Weak transcription	Psoas Muscle	Psoas
2	chr4:7974400-7989400	Weak transcription	Gastric	stomach
3	chr4:7975600-7983600	Weak transcription	Brain Angular Gyrus	brain
4	chr4:7975600-7984800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:7975800-7981600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:7975800-7988400	Weak transcription	Aorta	Aorta
7	chr4:7975800-8004800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:7976000-7988000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:7978800-7987800	Weak transcription	Fetal Kidney	kidney
10	chr4:7978800-8006000	Weak transcription	Brain Anterior Caudate	brain
11	chr4:7979000-7982000	Enhancers	HMEC	breast
12	chr4:7979200-7981800	Enhancers	Fetal Intestine Small	intestine
13	chr4:7979600-7981600	Enhancers	Duodenum Mucosa	Duodenum
14	chr4:7979600-7981800	Enhancers	Fetal Intestine Large	intestine
15	chr4:7979600-7982000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:7979600-7982000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:7979600-7982000	Enhancers	HSMMtube	muscle
18	chr4:7979600-7982200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:7979600-8011400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:7979800-7981400	Enhancers	Fetal Heart	heart
21	chr4:7979800-7981600	Enhancers	Esophagus	oesophagus
22	chr4:7979800-7981600	Enhancers	Placenta	Placenta
23	chr4:7979800-7981800	Enhancers	Fetal Thymus	thymus
24	chr4:7979800-7982000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:7979800-7982000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:7979800-7982000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:7979800-7982000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:7979800-7982000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:7979800-7982000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr4:7979800-7982400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:7980000-7981600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:7980000-7981800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr4:7980000-7982000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr4:7980000-7982000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr4:7980000-7982000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:7980000-7982000	Enhancers	HUVEC	blood vessel
37	chr4:7980000-7982000	Enhancers	NH-A	brain
38	chr4:7980000-7982200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:7980000-7982200	Enhancers	Stomach Mucosa	stomach
40	chr4:7980200-7981600	Enhancers	Lung	lung
41	chr4:7980200-7981800	Enhancers	HSMM	muscle
42	chr4:7980200-7982000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr4:7980400-7981400	Bivalent Enhancer	HepG2	liver
44	chr4:7980400-7981600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr4:7980400-7981600	Enhancers	Colonic Mucosa	Colon
46	chr4:7980400-7981600	Weak transcription	NHLF	lung
47	chr4:7980400-7982000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr4:7980400-7983800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr4:7980600-7981400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:7980600-7981600	Enhancers	Sigmoid Colon	Sigmoid Colon

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