Variant report

Variant	rs4952867
Chromosome Location	chr2:47312389-47312390
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47312009..47319415-chr2:47398595..47405362,13	K562	blood:
2	chr2:47311949..47314446-chr2:47401904..47404430,2	K562	blood:
3	chr2:47311106..47313250-chr2:47322578..47324877,2	K562	blood:
4	chr2:47292470..47294231-chr2:47312164..47314753,2	K562	blood:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10865215	0.90[ASN][1000 genomes]
rs1474394	1.00[ASN][1000 genomes]
rs4953460	1.00[ASN][1000 genomes]
rs4953462	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription 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 lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv873998	chr2:47273732-47313624	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv2716	chr2:47312166-47336600	Weak transcription Enhancers Flanking Active TSS Active TSS 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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47307200-47313000	Weak transcription	Esophagus	oesophagus
2	chr2:47307200-47315800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:47307200-47323000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:47307400-47312400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:47307400-47312400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:47307400-47312400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:47307400-47312400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:47307400-47316200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:47307600-47312400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:47307600-47312400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:47307600-47312400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:47307600-47312400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:47307600-47312600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:47307600-47312600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:47307600-47313200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:47307600-47313200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:47307600-47313400	Weak transcription	HSMM	muscle
18	chr2:47307600-47313800	Weak transcription	Fetal Brain Male	brain
19	chr2:47307600-47315400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:47307600-47315600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:47307600-47316000	Weak transcription	NHDF-Ad	bronchial
22	chr2:47308200-47312400	Weak transcription	A549	lung
23	chr2:47308200-47312600	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:47308200-47313000	Weak transcription	Brain Angular Gyrus	brain
25	chr2:47308400-47313000	Weak transcription	Fetal Intestine Small	intestine
26	chr2:47308400-47313400	Weak transcription	Fetal Intestine Large	intestine
27	chr2:47309800-47313400	Enhancers	Placenta	Placenta
28	chr2:47309800-47317800	Enhancers	Fetal Muscle Trunk	muscle
29	chr2:47310000-47313800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr2:47310000-47316600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr2:47310000-47318600	Enhancers	Fetal Muscle Leg	muscle
32	chr2:47310200-47317200	Enhancers	Left Ventricle	heart
33	chr2:47310400-47312600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:47310400-47314000	Enhancers	Primary hematopoietic stem cells	blood
35	chr2:47310400-47314600	Enhancers	Brain Substantia Nigra	brain
36	chr2:47310400-47315600	Enhancers	Duodenum Mucosa	Duodenum
37	chr2:47310400-47318800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:47310600-47312400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr2:47310600-47312400	Weak transcription	Fetal Kidney	kidney
40	chr2:47310600-47313000	Weak transcription	HepG2	liver
41	chr2:47310600-47314800	Enhancers	Stomach Mucosa	stomach
42	chr2:47310600-47317400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr2:47310800-47313000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:47310800-47313200	Weak transcription	Colonic Mucosa	Colon
45	chr2:47310800-47319200	Enhancers	Fetal Lung	lung
46	chr2:47310800-47319200	Enhancers	HUVEC	blood vessel
47	chr2:47311000-47313000	Weak transcription	HMEC	breast
48	chr2:47311200-47312400	Weak transcription	Small Intestine	intestine
49	chr2:47311200-47312600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:47311200-47313000	Weak transcription	Pancreas	Pancrea

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