Variant report

Variant	rs7839014
Chromosome Location	chr8:66735412-66735413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:66728806..66730730-chr8:66734212..66736095,3	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10504392	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1316700	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs59198392	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62507653	0.84[EUR][1000 genomes]
rs6472221	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6472224	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6472228	0.83[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66537647	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66609388	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67813477	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6984402	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72650509	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72666552	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1793412	chr8:66705321-66761366	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7839014	PDE7A	cis	parietal	SCAN
rs7839014	MTFR1	Cis_1M	lymphoblastoid	RTeQTL
rs7839014	MTFR1	cis	cerebellum	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66713400-66738200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:66716200-66738400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:66719400-66738600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:66719400-66750000	Weak transcription	Hela-S3	cervix
5	chr8:66720000-66736800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:66720400-66744800	Weak transcription	NHEK	skin
7	chr8:66721400-66738000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:66723800-66738200	Weak transcription	Pancreas	Pancrea
9	chr8:66725200-66742000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:66725200-66747000	Weak transcription	NHDF-Ad	bronchial
11	chr8:66725400-66742000	Weak transcription	HMEC	breast
12	chr8:66725400-66751200	Weak transcription	Fetal Heart	heart
13	chr8:66727600-66737000	Weak transcription	Brain Angular Gyrus	brain
14	chr8:66727800-66736600	Weak transcription	HSMM	muscle
15	chr8:66729000-66744800	Weak transcription	Gastric	stomach
16	chr8:66729400-66738200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:66729400-66744800	Weak transcription	Spleen	Spleen
18	chr8:66729400-66749400	Weak transcription	Fetal Brain Male	brain
19	chr8:66730000-66741400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:66730000-66741600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr8:66730800-66737400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:66731000-66752600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:66731400-66736600	Strong transcription	Dnd41	blood
24	chr8:66731400-66741000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:66731600-66738000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:66731600-66738200	Weak transcription	Lung	lung
27	chr8:66731600-66740000	Weak transcription	A549	lung
28	chr8:66731600-66741400	Weak transcription	Fetal Stomach	stomach
29	chr8:66731600-66752600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:66731800-66752600	Weak transcription	Adipose Nuclei	Adipose
31	chr8:66732200-66738000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:66732200-66738000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:66732200-66741400	Weak transcription	Fetal Intestine Large	intestine
34	chr8:66732400-66739200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:66732400-66745000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:66732400-66745000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:66732600-66736200	Weak transcription	Primary B cells from cord blood	blood
38	chr8:66732600-66738000	Weak transcription	Thymus	Thymus
39	chr8:66732600-66738800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:66732600-66739000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:66732600-66751000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:66732600-66751000	Weak transcription	Fetal Lung	lung
43	chr8:66732800-66736800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:66732800-66738200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr8:66733000-66736200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:66733000-66738600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr8:66733000-66752000	Weak transcription	Fetal Intestine Small	intestine
48	chr8:66733400-66743800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:66733600-66735800	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr8:66733600-66736600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links