Variant report

Variant	rs7989755
Chromosome Location	chr13:49392866-49392867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49383258..49386071-chr13:49392295..49393955,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1025235	1.00[EUR][1000 genomes]
rs11841457	1.00[EUR][1000 genomes]
rs1323554	1.00[EUR][1000 genomes]
rs17072194	1.00[EUR][1000 genomes]
rs17072196	1.00[EUR][1000 genomes]
rs60078151	1.00[EUR][1000 genomes]
rs7323683	1.00[EUR][1000 genomes]
rs73480223	1.00[EUR][1000 genomes]
rs73480249	1.00[EUR][1000 genomes]
rs73482300	1.00[EUR][1000 genomes]
rs73484304	1.00[EUR][1000 genomes]
rs7987892	1.00[EUR][1000 genomes]
rs7994259	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS 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 target site	42 gene(s)	inside rSNPs	diseases
2	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv832606	chr13:49352212-49506009	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49388000-49393800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:49390800-49394000	Enhancers	NHLF	lung
3	chr13:49391000-49394400	Enhancers	HMEC	breast
4	chr13:49391000-49395000	Enhancers	NHDF-Ad	bronchial
5	chr13:49391200-49393000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:49391200-49393800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:49391600-49395400	Enhancers	Stomach Mucosa	stomach
8	chr13:49391800-49393600	Enhancers	HSMM	muscle
9	chr13:49391800-49393800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:49391800-49396200	Enhancers	Hela-S3	cervix
11	chr13:49392000-49393600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr13:49392000-49394000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr13:49392200-49394000	Enhancers	A549	lung
14	chr13:49392400-49393000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:49392400-49393400	Enhancers	HSMMtube	muscle
16	chr13:49392600-49393000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr13:49392600-49393200	Enhancers	Fetal Stomach	stomach
18	chr13:49392600-49393400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr13:49392600-49394200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:49392600-49396800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr13:49392800-49393000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr13:49392800-49393200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:49392800-49393200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:49392800-49393200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:49392800-49393200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:49392800-49393200	Enhancers	Aorta	Aorta
27	chr13:49392800-49393200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr13:49392800-49393200	Enhancers	Fetal Intestine Large	intestine
29	chr13:49392800-49393200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr13:49392800-49393200	Enhancers	Placenta	Placenta
31	chr13:49392800-49393200	Flanking Active TSS	NH-A	brain
32	chr13:49392800-49393200	Flanking Active TSS	Osteobl	bone
33	chr13:49392800-49393400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:49392800-49393400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:49392800-49393600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr13:49392800-49394200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:49392800-49394200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:49392800-49394600	Enhancers	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links