Variant report

Variant	rs12669119
Chromosome Location	chr7:47978727-47978728
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:47892331..47892915-chr7:47978255..47979042,2	MCF-7	breast:
2	chr7:47969215..47970868-chr7:47978587..47981152,2	K562	blood:
3	chr7:47305690..47306284-chr7:47978107..47978813,2	MCF-7	breast:
4	chr7:47978394..47981153-chr7:48011977..48014017,2	K562	blood:
5	chr7:47977182..47979989-chr7:47980924..47982675,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10261436	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10281977	0.83[ASN][1000 genomes]
rs10499669	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12534886	0.87[ASN][1000 genomes]
rs12667562	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1474283	0.86[ASN][1000 genomes]
rs17131948	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1829730	0.89[ASN][1000 genomes]
rs2177165	0.87[ASN][1000 genomes]
rs2307252	0.88[EUR][1000 genomes]
rs2348665	0.98[EUR][1000 genomes]
rs3176491	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3176568	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3176581	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3176595	0.98[EUR][1000 genomes]
rs36213466	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4720625	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56075223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59023024	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59920101	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62447088	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62447089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62447093	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6463454	0.89[ASN][1000 genomes]
rs73695940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802908	0.85[ASN][1000 genomes]
rs885338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47934000-48001800	Weak transcription	Psoas Muscle	Psoas
2	chr7:47965800-47980400	Weak transcription	Aorta	Aorta
3	chr7:47967600-47993400	Weak transcription	Brain Anterior Caudate	brain
4	chr7:47972400-47979200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr7:47972600-47979000	Weak transcription	Right Atrium	heart
6	chr7:47972600-47980400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr7:47972800-47979600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:47974000-47979600	Weak transcription	Adipose Nuclei	Adipose
9	chr7:47974800-47979400	Weak transcription	Lung	lung
10	chr7:47974800-47979400	Weak transcription	HSMMtube	muscle
11	chr7:47974800-47980200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:47975000-47979000	Weak transcription	Fetal Intestine Small	intestine
13	chr7:47975800-47979000	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:47975800-47982400	Enhancers	Fetal Heart	heart
15	chr7:47976000-47979800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:47976000-47986000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:47976600-47980800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:47976800-47979600	Weak transcription	HSMM	muscle
19	chr7:47977000-47979600	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr7:47977200-47979800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:47977200-47980000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:47977200-47980400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:47977200-47980400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:47977200-47980800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:47977200-47980800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:47977400-47981800	Enhancers	Right Ventricle	heart
27	chr7:47977400-48000600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:47977600-47979400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:47977600-47979800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:47977600-47980200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:47977800-47978800	Weak transcription	Spleen	Spleen
32	chr7:47978000-47979200	Weak transcription	Left Ventricle	heart
33	chr7:47978200-47978800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr7:47978200-47978800	Enhancers	A549	lung
35	chr7:47978200-47980200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:47978400-47978800	Enhancers	Fetal Intestine Large	intestine
37	chr7:47978400-47979200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:47978400-47979400	Weak transcription	Colonic Mucosa	Colon
39	chr7:47978400-47979400	Enhancers	GM12878-XiMat	blood
40	chr7:47978400-47983600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:47978400-47993800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:47978400-47994000	Weak transcription	Fetal Thymus	thymus
43	chr7:47978600-47982000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:47978600-47992600	Weak transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links