Variant report

Variant	rs9312938
Chromosome Location	chr5:16850125-16850126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:16849681-16850207	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16849069..16851514-chr5:16934765..16937282,2	MCF-7	breast:
2	chr5:16848554..16850179-chr5:16855617..16858396,2	K562	blood:

Variant related genes	Relation type
RNA5SP179	TF binding region
ENSG00000145555	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10213824	0.88[CEU][hapmap]
rs11133865	0.85[JPT][hapmap]
rs7719940	0.85[JPT][hapmap]

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	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv3529928	chr5:16748426-16856563	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS 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 miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3529929	chr5:16748426-16856563	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1030550	chr5:16748966-16872084	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2762500	chr5:16815489-16952565	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv1026773	chr5:16846836-16877367	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16820800-16855200	Weak transcription	HSMM	muscle
2	chr5:16828000-16852400	Weak transcription	NHDF-Ad	bronchial
3	chr5:16829400-16855800	Weak transcription	Fetal Intestine Small	intestine
4	chr5:16832400-16855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:16834800-16853400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:16838200-16853600	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:16839000-16853000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:16839000-16855800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:16839000-16864600	Weak transcription	Fetal Brain Female	brain
10	chr5:16841800-16852400	Weak transcription	Fetal Stomach	stomach
11	chr5:16841800-16855600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:16842400-16862800	Weak transcription	Stomach Mucosa	stomach
13	chr5:16842600-16855200	Weak transcription	HUVEC	blood vessel
14	chr5:16842600-16855600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:16843400-16855000	Weak transcription	Lung	lung
16	chr5:16843600-16852800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:16843600-16853600	Weak transcription	HSMMtube	muscle
18	chr5:16844400-16855600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:16844800-16855600	Weak transcription	NHEK	skin
20	chr5:16845600-16857000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:16846200-16852600	Weak transcription	Fetal Lung	lung
22	chr5:16846400-16852800	Weak transcription	Small Intestine	intestine
23	chr5:16846600-16852600	Weak transcription	NH-A	brain
24	chr5:16846800-16852600	Weak transcription	Osteobl	bone
25	chr5:16846800-16855600	Weak transcription	Gastric	stomach
26	chr5:16846800-16856200	Weak transcription	HMEC	breast
27	chr5:16847000-16852200	Weak transcription	Fetal Kidney	kidney
28	chr5:16847000-16855000	Weak transcription	Pancreas	Pancrea
29	chr5:16847000-16855600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:16847800-16856000	Weak transcription	Fetal Thymus	thymus
31	chr5:16848600-16850200	Enhancers	A549	lung
32	chr5:16848600-16850400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:16848800-16851800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:16848800-16855800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:16849200-16852400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:16849200-16852600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:16849400-16852600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:16849600-16850400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:16849600-16850400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:16849600-16850400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr5:16849600-16850400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:16850000-16855800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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