Variant report

Variant	rs7995192
Chromosome Location	chr13:50782599-50782600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50696907..50700577-chr13:50781270..50785724,5	MCF-7	breast:
2	chr13:50699361..50702189-chr13:50781603..50783144,2	K562	blood:
3	chr13:50778576..50780314-chr13:50781693..50784029,2	K562	blood:
4	chr13:50759057..50760946-chr13:50781781..50784328,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176124	Chromatin interaction
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17073826	1.00[JPT][hapmap]
rs2066598	1.00[JPT][hapmap]
rs729715	1.00[JPT][hapmap]
rs7325091	1.00[JPT][hapmap]
rs7981648	1.00[JPT][hapmap]
rs7984417	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596257	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv561631	chr13:50761619-50846748	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7995192	ENPP6	trans	brain	seeQTL
rs7995192	KLF4	trans	brain	seeQTL
rs7995192	SLC47A1	trans	brain	seeQTL

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50760600-50789200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:50767000-50782800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:50767000-50783000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr13:50767600-50782800	Weak transcription	Gastric	stomach
5	chr13:50767800-50782800	Weak transcription	Colonic Mucosa	Colon
6	chr13:50770800-50783000	Weak transcription	Spleen	Spleen
7	chr13:50775000-50782800	Weak transcription	Ovary	ovary
8	chr13:50775200-50782600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:50775600-50786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr13:50776400-50782600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr13:50776800-50782600	Weak transcription	Fetal Heart	heart
12	chr13:50777800-50782600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr13:50778000-50782800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr13:50778200-50782600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr13:50778400-50782600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr13:50778400-50782600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr13:50778400-50782600	Weak transcription	Fetal Stomach	stomach
18	chr13:50778600-50782600	Weak transcription	Fetal Lung	lung
19	chr13:50778600-50782800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:50778600-50782800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:50780800-50782600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr13:50782000-50782800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr13:50782200-50782600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:50782200-50782600	Enhancers	NH-A	brain
25	chr13:50782200-50782800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr13:50782200-50782800	Enhancers	NHLF	lung
27	chr13:50782400-50782600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:50782400-50782600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr13:50782400-50782600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:50782400-50782600	Enhancers	Colon Smooth Muscle	Colon
31	chr13:50782400-50782600	Enhancers	Lung	lung
32	chr13:50782400-50782600	Enhancers	HSMM	muscle
33	chr13:50782400-50782600	Enhancers	Osteobl	bone
34	chr13:50782400-50782800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:50782400-50782800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr13:50782400-50782800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr13:50782400-50782800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr13:50782400-50782800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:50782400-50782800	Weak transcription	Esophagus	oesophagus
40	chr13:50782400-50782800	Enhancers	Left Ventricle	heart
41	chr13:50782400-50782800	Enhancers	Right Atrium	heart
42	chr13:50782400-50782800	Enhancers	Right Ventricle	heart
43	chr13:50782400-50782800	Flanking Active TSS	A549	lung
44	chr13:50782400-50782800	Enhancers	Dnd41	blood
45	chr13:50782400-50782800	Enhancers	HSMMtube	muscle
46	chr13:50782400-50783000	Enhancers	Primary hematopoietic stem cells	blood
47	chr13:50782400-50783000	Enhancers	Aorta	Aorta
48	chr13:50782400-50783000	Flanking Active TSS	K562	blood
49	chr13:50782400-50783200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr13:50782400-50783200	Enhancers	HMEC	breast

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