Variant report

Variant	rs7805545
Chromosome Location	chr7:129609681-129609682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129591176..129593761-chr7:129608372..129611572,6	MCF-7	breast:
2	chr7:129606360..129608492-chr7:129608705..129610885,2	MCF-7	breast:
3	chr7:129598314..129600626-chr7:129608223..129610366,4	MCF-7	breast:
4	chr7:129609336..129611503-chr7:129646560..129648430,2	MCF-7	breast:
5	chr7:129601485..129603428-chr7:129606643..129609932,3	K562	blood:
6	chr7:129557764..129560612-chr7:129608880..129612426,3	K562	blood:
7	chr7:129609229..129611456-chr7:129616852..129619054,2	MCF-7	breast:
8	chr7:129603729..129606514-chr7:129609677..129611589,2	MCF-7	breast:
9	chr7:129588627..129590640-chr7:129608239..129610000,3	MCF-7	breast:
10	chr7:129588800..129594558-chr7:129608389..129611367,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000207184	Chromatin interaction
ENSG00000199516	Chromatin interaction
ENSG00000186591	Chromatin interaction
ENSG00000244036	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10246708	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247295	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10271407	1.00[ASN][1000 genomes]
rs2177773	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28563772	1.00[ASN][1000 genomes]
rs4580987	1.00[ASN][1000 genomes]
rs4606000	1.00[ASN][1000 genomes]
rs6467273	1.00[ASN][1000 genomes]
rs6945757	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949020	1.00[ASN][1000 genomes]
rs6959601	1.00[ASN][1000 genomes]
rs6975656	1.00[ASN][1000 genomes]
rs6975965	1.00[ASN][1000 genomes]
rs7778194	1.00[ASN][1000 genomes]
rs7805829	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7805545	CPA2	cis	cerebellum	SCAN
rs7805545	AHCYL2	cis	parietal	SCAN
rs7805545	NRF1	cis	cerebellum	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129598800-129629600	Weak transcription	Right Atrium	heart
2	chr7:129608400-129611000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:129608600-129610000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:129608600-129610200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr7:129608600-129610200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:129608600-129610200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:129608600-129610400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:129608600-129610600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:129608600-129611000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:129608600-129611000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:129608600-129611000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:129608600-129611000	Enhancers	Placenta	Placenta
13	chr7:129608600-129611200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:129608600-129611400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:129608600-129611400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:129608600-129611400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:129608600-129611400	Enhancers	Esophagus	oesophagus
18	chr7:129608800-129610200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:129608800-129610200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr7:129608800-129610200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:129608800-129610800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr7:129609000-129610200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:129609000-129610200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:129609000-129610200	Enhancers	K562	blood
25	chr7:129609000-129611000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr7:129609000-129611200	Enhancers	HMEC	breast
27	chr7:129609000-129611200	Enhancers	HUVEC	blood vessel
28	chr7:129609200-129610200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:129609200-129610200	Enhancers	Fetal Muscle Leg	muscle
30	chr7:129609400-129609800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:129609400-129609800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr7:129609400-129609800	Enhancers	Osteobl	bone
33	chr7:129609400-129610200	Flanking Active TSS	Hela-S3	cervix
34	chr7:129609400-129610800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:129609400-129611000	Enhancers	HepG2	liver
36	chr7:129609600-129609800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:129609600-129609800	Flanking Active TSS	NHEK	skin
38	chr7:129609600-129610200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:129609600-129610200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr7:129609600-129610200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:129609600-129610200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:129609600-129610200	Enhancers	NHDF-Ad	bronchial
43	chr7:129609600-129610400	Flanking Active TSS	A549	lung
44	chr7:129609600-129610400	Flanking Active TSS	NH-A	brain
45	chr7:129609600-129611000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:129609600-129611000	Enhancers	Duodenum Mucosa	Duodenum
47	chr7:129609600-129611000	Enhancers	Fetal Muscle Trunk	muscle
48	chr7:129609600-129611000	Enhancers	NHLF	lung
49	chr7:129609600-129611200	Enhancers	Stomach Mucosa	stomach

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