Variant report

Variant	rs7994201
Chromosome Location	chr13:50159492-50159493
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50140129..50142488-chr13:50158778..50160378,3	MCF-7	breast:
2	chr13:50016992..50019784-chr13:50159235..50161344,2	K562	blood:
3	chr1:144533809..144534431-chr13:50159258..50160240,2	Hela-S3	cervix:
4	chr13:50068906..50071236-chr13:50159028..50161203,3	MCF-7	breast:
5	chr13:50016508..50019619-chr13:50158297..50162493,5	MCF-7	breast:
6	chr13:50159263..50159994-chr6:30180805..30181444,2	NB4	blood:

Variant related genes	Relation type
ENSG00000136147	Chromatin interaction
ENSG00000102547	Chromatin interaction
ENSG00000136169	Chromatin interaction
ENSG00000234127	Chromatin interaction
ENSG00000136144	Chromatin interaction
ENSG00000201699	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1359541	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1359543	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1409015	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1925743	0.91[EUR][1000 genomes]
rs2094108	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2146144	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2146146	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3969	0.84[EUR][1000 genomes]
rs4315259	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4409984	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4415919	0.86[EUR][1000 genomes]
rs4638463	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4942851	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4942854	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4942859	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4942860	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7322886	0.86[EUR][1000 genomes]
rs7329454	0.84[ASN][1000 genomes]
rs7334387	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8000680	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316462	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9316463	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9526580	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535268	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535270	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9535271	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9535275	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9568284	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9568285	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9568286	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1036135	chr13:50071310-50183103	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv541770	chr13:50071310-50183103	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' 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
6	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv2763020	chr13:50105055-50192259	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv561616	chr13:50120435-50190246	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	nsv949162	chr13:50120985-50195882	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1046912	chr13:50122840-50189313	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv1043902	chr13:50122840-50189999	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
13	esv2761789	chr13:50122852-50185910	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
14	nsv455883	chr13:50124621-50185204	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	nsv561617	chr13:50124621-50185204	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	nsv1043697	chr13:50129199-50249241	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
17	esv2752657	chr13:50144995-50244150	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7994201	RCBTB1	cis	Whole Blood	GTEx
rs7994201	ARL11	Cis_1M	lymphoblastoid	RTeQTL
rs7994201	RCBTB1	cis	hippocampus	BrainEAC
rs7994201	RCBTB1	cis	intralobular white matter	BrainEAC
rs7994201	RCBTB1	cis	brain	BrainEAC

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50157800-50160200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:50157800-50160200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:50157800-50160400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:50158000-50160000	Active TSS	NHLF	lung
5	chr13:50158000-50160200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr13:50158000-50160200	Active TSS	Brain Germinal Matrix	brain
7	chr13:50158000-50160200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr13:50158000-50160600	Active TSS	Right Atrium	heart
9	chr13:50158200-50160000	Active TSS	Muscle Satellite Cultured Cells	--
10	chr13:50158200-50160200	Active TSS	Brain Anterior Caudate	brain
11	chr13:50158200-50160200	Active TSS	NHDF-Ad	bronchial
12	chr13:50158200-50160400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr13:50158200-50160400	Active TSS	Brain Hippocampus Middle	brain
14	chr13:50158400-50160000	Active TSS	HMEC	breast
15	chr13:50158400-50160200	Active TSS	Brain Cingulate Gyrus	brain
16	chr13:50158400-50160200	Active TSS	Thymus	Thymus
17	chr13:50158400-50160400	Active TSS	Fetal Kidney	kidney
18	chr13:50158400-50160600	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr13:50158400-50160600	Active TSS	Fetal Brain Female	brain
20	chr13:50158400-50160600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr13:50158600-50160000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:50158600-50160000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:50158600-50160000	Active TSS	Fetal Muscle Trunk	muscle
24	chr13:50158600-50160000	Active TSS	NH-A	brain
25	chr13:50158600-50160200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:50158600-50160200	Active TSS	Aorta	Aorta
27	chr13:50158600-50160200	Active TSS	Brain Angular Gyrus	brain
28	chr13:50158600-50160200	Active TSS	Psoas Muscle	Psoas
29	chr13:50158600-50160200	Active TSS	Right Ventricle	heart
30	chr13:50158600-50160200	Active TSS	HSMM	muscle
31	chr13:50158600-50160400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr13:50158600-50160400	Active TSS	H9 Cell Line	embryonic stem cell
33	chr13:50158600-50160400	Active TSS	Ovary	ovary
34	chr13:50158600-50160400	Active TSS	HepG2	liver
35	chr13:50158600-50160600	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr13:50158600-50160600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr13:50158600-50160600	Active TSS	Rectal Smooth Muscle	rectum
38	chr13:50158600-50160800	Active TSS	H1 Cell Line	embryonic stem cell
39	chr13:50158800-50160000	Active TSS	Fetal Stomach	stomach
40	chr13:50158800-50160000	Active TSS	Lung	lung
41	chr13:50158800-50160200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:50158800-50160200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr13:50158800-50160200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:50158800-50160200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:50158800-50160200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr13:50158800-50160200	Active TSS	Esophagus	oesophagus
47	chr13:50158800-50160200	Active TSS	Fetal Intestine Small	intestine
48	chr13:50158800-50160200	Active TSS	Placenta	Placenta
49	chr13:50158800-50160200	Active TSS	Left Ventricle	heart
50	chr13:50158800-50160200	Active TSS	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links