Variant report

Variant	rs12530806
Chromosome Location	chr7:66390724-66390725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66385788..66388541-chr7:66389275..66392826,4	MCF-7	breast:
2	chr7:65958803..65960399-chr7:66390332..66392925,2	K562	blood:
3	chr7:66384799..66388848-chr7:66389441..66396879,12	K562	blood:

Variant related genes	Relation type
ENSG00000106609	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10267335	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10281796	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11028	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12536410	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12698546	0.86[EUR][1000 genomes]
rs12698547	0.89[EUR][1000 genomes]
rs13220977	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13227468	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13231140	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13241598	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28441684	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28648401	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2901311	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34577323	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3800817	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4717328	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4717331	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4718412	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4718422	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4718424	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4718430	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs68168107	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12530806	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs12530806	RP4-756H11.3	cis	lung	GTEx
rs12530806	RP4-756H11.3	cis	Thyroid	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66387400-66395000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:66387400-66395000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:66387600-66393400	Weak transcription	Fetal Heart	heart
4	chr7:66387600-66394800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:66387600-66394800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:66387600-66394800	Weak transcription	Esophagus	oesophagus
7	chr7:66387600-66395000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:66387600-66395200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:66387600-66395200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:66387600-66407200	Weak transcription	NH-A	brain
11	chr7:66387600-66409800	Weak transcription	Fetal Kidney	kidney
12	chr7:66387600-66428000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:66387800-66391200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:66387800-66391800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:66387800-66397200	Weak transcription	Osteobl	bone
16	chr7:66388000-66391600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:66388000-66394600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:66388200-66391400	Genic enhancers	Fetal Muscle Leg	muscle
19	chr7:66388200-66392200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:66388200-66393400	Weak transcription	HMEC	breast
21	chr7:66388200-66395000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:66388200-66406800	Weak transcription	NHLF	lung
23	chr7:66388400-66393400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:66388400-66394600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:66388400-66401200	Weak transcription	Fetal Lung	lung
26	chr7:66388400-66406800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:66388400-66406800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:66388600-66391000	Weak transcription	Psoas Muscle	Psoas
29	chr7:66388600-66391400	Strong transcription	GM12878-XiMat	blood
30	chr7:66388600-66392200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:66388600-66394600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:66388600-66395000	Strong transcription	NHEK	skin
33	chr7:66388600-66395400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:66388600-66396000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:66388600-66398000	Weak transcription	Placenta	Placenta
36	chr7:66388600-66403600	Weak transcription	HUVEC	blood vessel
37	chr7:66388600-66403800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:66388600-66406800	Weak transcription	NHDF-Ad	bronchial
39	chr7:66388800-66391400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:66388800-66394000	Weak transcription	Colonic Mucosa	Colon
41	chr7:66388800-66395200	Weak transcription	Brain Substantia Nigra	brain
42	chr7:66388800-66395600	Weak transcription	Ovary	ovary
43	chr7:66389000-66390800	Weak transcription	Fetal Brain Male	brain
44	chr7:66389000-66390800	Weak transcription	Right Atrium	heart
45	chr7:66389000-66391200	Weak transcription	Brain Anterior Caudate	brain
46	chr7:66389000-66391600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:66389000-66391800	Weak transcription	Pancreas	Pancrea
48	chr7:66389000-66392600	Weak transcription	Spleen	Spleen
49	chr7:66389000-66392800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr7:66389000-66392800	Weak transcription	Gastric	stomach

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