Variant report

Variant	rs685887
Chromosome Location	chr3:50677055-50677056
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:50676160..50677917-chr3:50681102..50683661,2	K562	blood:
2	chr3:50671203..50673745-chr3:50674987..50677707,3	K562	blood:

Variant related genes	Relation type
ENSG00000114738	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11711534	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11715134	1.00[AFR][1000 genomes]
rs11715725	1.00[AFR][1000 genomes]
rs11718086	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1531270	1.00[AFR][1000 genomes]
rs73072475	1.00[AFR][1000 genomes]
rs73082936	1.00[AFR][1000 genomes]
rs73082941	1.00[AFR][1000 genomes]
rs752183	1.00[AFR][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	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv460533	chr3:50574213-50678151	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv590273	chr3:50574213-50678151	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50655400-50677800	Weak transcription	Aorta	Aorta
2	chr3:50655600-50681200	Weak transcription	Fetal Brain Female	brain
3	chr3:50656000-50677800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr3:50657600-50678200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr3:50661600-50688200	Weak transcription	Small Intestine	intestine
6	chr3:50662400-50678200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:50663200-50677600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:50663400-50690000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr3:50665400-50679000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:50665400-50686800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:50665600-50686200	Weak transcription	Stomach Mucosa	stomach
12	chr3:50667200-50680400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:50668600-50678800	Weak transcription	Pancreas	Pancrea
14	chr3:50668600-50679200	Weak transcription	HepG2	liver
15	chr3:50669000-50684800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:50670200-50689000	Weak transcription	K562	blood
17	chr3:50670400-50678000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr3:50670400-50699800	Weak transcription	Hela-S3	cervix
19	chr3:50670800-50679800	Weak transcription	Colon Smooth Muscle	Colon
20	chr3:50671200-50677600	Weak transcription	Gastric	stomach
21	chr3:50671200-50679000	Weak transcription	Ovary	ovary
22	chr3:50671200-50680600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:50672400-50680600	Weak transcription	GM12878-XiMat	blood
24	chr3:50672400-50688000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr3:50673600-50677200	Enhancers	Right Ventricle	heart
26	chr3:50673600-50677400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:50673600-50677400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:50673600-50677400	Enhancers	Fetal Heart	heart
29	chr3:50673600-50677400	Enhancers	NHDF-Ad	bronchial
30	chr3:50673800-50677200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:50674000-50677200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:50674000-50677800	Weak transcription	Adipose Nuclei	Adipose
33	chr3:50674000-50681400	Weak transcription	Fetal Kidney	kidney
34	chr3:50674200-50677200	Enhancers	HMEC	breast
35	chr3:50674200-50679200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr3:50674200-50687200	Strong transcription	Dnd41	blood
37	chr3:50674400-50677200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr3:50674400-50678000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr3:50674400-50681800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:50674600-50678600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:50674800-50677400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr3:50674800-50677800	Weak transcription	Colonic Mucosa	Colon
43	chr3:50674800-50677800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr3:50674800-50678400	Weak transcription	Fetal Lung	lung
45	chr3:50674800-50679600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:50674800-50680800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:50675200-50677400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:50675200-50677400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:50675200-50677400	Genic enhancers	NHEK	skin
50	chr3:50675200-50677600	Enhancers	HSMM	muscle

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