Variant report

Variant	rs10785195
Chromosome Location	chr12:75965276-75965277
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:75964046..75966886-chr20:30181769..30183589,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10748283	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10785199	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10785200	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10879929	0.84[EUR][1000 genomes]
rs10879930	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10879932	0.83[EUR][1000 genomes]
rs10879933	0.82[EUR][1000 genomes]
rs10879934	0.80[EUR][1000 genomes]
rs10879937	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10879938	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10879945	0.90[EUR][1000 genomes]
rs11180575	0.82[EUR][1000 genomes]
rs11180601	0.83[ASN][1000 genomes]
rs11495681	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12811250	0.81[EUR][1000 genomes]
rs1480005	0.96[EUR][1000 genomes]
rs1697759	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115238	0.81[EUR][1000 genomes]
rs2366988	0.82[EUR][1000 genomes]
rs3847671	0.83[EUR][1000 genomes]
rs3898937	0.83[EUR][1000 genomes]
rs4323912	0.82[EUR][1000 genomes]
rs4882631	0.82[EUR][1000 genomes]
rs7137366	0.90[EUR][1000 genomes]
rs7300994	0.82[EUR][1000 genomes]
rs733880	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs733881	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7955264	0.83[EUR][1000 genomes]
rs7956799	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv470305	chr12:75896688-75987360	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs10785195	GLIPR1	Cis_1M	lymphoblastoid	RTeQTL
rs10785195	GLIPR1L2	cis	Thyroid	GTEx
rs10785195	GLIPR1L2	cis	Artery Aorta	GTEx
rs10785195	GLIPR1L2	cis	Muscle Skeletal	GTEx
rs10785195	RP11-585P4.5	cis	Artery Tibial	GTEx
rs10785195	RP11-585P4.5	cis	Adipose Subcutaneous	GTEx
rs10785195	GLIPR1L2	cis	lung	GTEx
rs10785195	GLIPR1L2	cis	Artery Tibial	GTEx
rs10785195	GLIPR1L2	cis	Esophagus Mucosa	GTEx
rs10785195	RP11-585P4.5	cis	Esophagus Mucosa	GTEx
rs10785195	RP11-585P4.5	cis	Thyroid	GTEx
rs10785195	GLIPR1L2	cis	Nerve Tibial	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75960200-75966000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:75962800-75965400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:75962800-75966000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:75963000-75966200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:75963800-75965600	Enhancers	Fetal Lung	lung
6	chr12:75964000-75966800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:75964200-75966000	Enhancers	Brain Hippocampus Middle	brain
8	chr12:75964400-75965600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:75964400-75966200	Enhancers	Brain Germinal Matrix	brain
10	chr12:75964600-75965600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr12:75964600-75966000	Enhancers	HUVEC	blood vessel
12	chr12:75964800-75965600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:75964800-75965800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:75964800-75965800	Enhancers	Brain Substantia Nigra	brain
15	chr12:75964800-75966000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:75965000-75965400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr12:75965000-75965400	Enhancers	Fetal Brain Female	brain
18	chr12:75965000-75965800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:75965200-75965600	Enhancers	Brain Cingulate Gyrus	brain
20	chr12:75965200-75965800	Enhancers	Brain Anterior Caudate	brain
21	chr12:75965200-75966200	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links