Variant report

Variant	rs7134686
Chromosome Location	chr12:49320326-49320327
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49319039..49321186-chr12:49348048..49350961,2	MCF-7	breast:
2	chr12:49318968..49320565-chr12:49363213..49364979,2	MCF-7	breast:
3	chr12:49317412..49320697-chr12:49349793..49352537,4	MCF-7	breast:
4	chr12:49318409..49320473-chr12:49386787..49389154,2	MCF-7	breast:
5	chr12:49257454..49260772-chr12:49317154..49320539,3	MCF-7	breast:
6	chr12:49245963..49247751-chr12:49317835..49320703,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134287	Chromatin interaction
ENSG00000272822	Chromatin interaction
ENSG00000174243	Chromatin interaction
ENSG00000258283	Chromatin interaction
ENSG00000172602	Chromatin interaction
ENSG00000169884	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10747556	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10783292	0.83[AMR][1000 genomes]
rs10783293	0.81[ASN][1000 genomes]
rs10783294	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10783295	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10875886	0.80[ASN][1000 genomes]
rs10875893	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10875894	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10875895	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10875896	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10875900	0.81[EUR][1000 genomes]
rs11168779	0.84[AMR][1000 genomes]
rs11168783	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11168784	0.84[AMR][1000 genomes]
rs11168785	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11168790	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11168792	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11168794	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11168798	0.80[EUR][1000 genomes]
rs11608916	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11610459	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11610497	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11614474	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12227240	0.81[AMR][1000 genomes]
rs12228521	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12229275	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12423542	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12579249	0.81[ASN][1000 genomes]
rs1318692	0.84[AMR][1000 genomes]
rs2272312	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2293449	0.80[ASN][1000 genomes]
rs2368701	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3759146	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3809147	0.84[AMR][1000 genomes]
rs3825182	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4237854	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4433614	0.83[AMR][1000 genomes]
rs4760600	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4760647	0.81[AMR][1000 genomes]
rs4760661	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4760665	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs58023472	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61941142	0.84[AMR][1000 genomes]
rs7297958	0.81[ASN][1000 genomes]
rs7298330	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7304942	0.81[ASN][1000 genomes]
rs7489036	0.81[AMR][1000 genomes]
rs961320	0.84[AMR][1000 genomes]
rs9788029	0.81[ASN][1000 genomes]
rs9795742	0.83[AMR][1000 genomes]
rs9796008	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7134686	CCDC65	cis	Artery Tibial	GTEx
rs7134686	RP11-302B13.1	cis	Whole Blood	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49314400-49338000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:49314400-49338600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:49315800-49321000	Weak transcription	K562	blood
4	chr12:49319200-49349800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:49319400-49325200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:49319400-49337800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:49319600-49320800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:49319600-49321000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:49319600-49323200	Weak transcription	Brain Germinal Matrix	brain
10	chr12:49319600-49324400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:49319600-49326600	Weak transcription	Aorta	Aorta
12	chr12:49319600-49331800	Weak transcription	Psoas Muscle	Psoas
13	chr12:49319600-49332800	Weak transcription	Small Intestine	intestine
14	chr12:49319600-49334600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:49319800-49320400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:49319800-49320400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:49319800-49320800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:49319800-49320800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:49319800-49320800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:49319800-49320800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:49319800-49320800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:49319800-49320800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:49319800-49320800	Weak transcription	A549	lung
24	chr12:49319800-49320800	Weak transcription	NHLF	lung
25	chr12:49319800-49321000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:49319800-49321000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:49319800-49321000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:49319800-49321000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:49319800-49321000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:49319800-49321000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:49319800-49321000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:49319800-49321000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr12:49319800-49321000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:49319800-49321000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:49319800-49321000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:49319800-49321000	Weak transcription	Fetal Stomach	stomach
37	chr12:49319800-49321000	Weak transcription	Stomach Mucosa	stomach
38	chr12:49319800-49321000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr12:49319800-49321200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:49319800-49321200	Strong transcription	Stomach Smooth Muscle	stomach
41	chr12:49319800-49321400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:49319800-49321400	Weak transcription	Placenta	Placenta
43	chr12:49319800-49321600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:49319800-49321600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:49319800-49321800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:49319800-49321800	Weak transcription	Fetal Intestine Small	intestine
47	chr12:49319800-49322800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr12:49319800-49322800	Weak transcription	Esophagus	oesophagus
49	chr12:49319800-49322800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:49319800-49323000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links