Variant report

Variant	rs62192251
Chromosome Location	chr2:231277825-231277826
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr2:231277481-231277946	K562	blood:	n/a	n/a
2	IRF1	chr2:231277321-231277838	K562	blood:	n/a	chr2:231277717-231277731
3	UBTF	chr2:231277667-231277994	K562	blood:	n/a	n/a
4	HCFC1	chr2:231277636-231277851	K562	blood:	n/a	n/a
5	RCOR1	chr2:231277563-231277915	K562	blood:	n/a	n/a
6	CBX3	chr2:231277527-231277835	K562	blood:	n/a	n/a
7	POLR2A	chr2:231277481-231277918	K562	blood:	n/a	n/a
8	ZNF263	chr2:231277426-231277937	HEK293-T-REx	kidney:	n/a	n/a
9	MYC	chr2:231277441-231277852	K562	blood:	n/a	n/a
10	EP300	chr2:231277573-231277862	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:231276297..231278950-chr2:231279090..231280823,2	MCF-7	breast:
2	chr2:231269734..231271710-chr2:231274995..231278115,3	K562	blood:
3	chr2:231276390..231278062-chr2:231285132..231287454,2	K562	blood:
4	chr2:231276236..231278325-chr2:231279653..231283011,3	K562	blood:

No data

Variant related genes	Relation type
SP100	TF binding region
ENSG00000067066	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10178594	0.86[ASN][1000 genomes]
rs10182438	0.89[ASN][1000 genomes]
rs10191957	0.92[ASN][1000 genomes]
rs10205096	0.89[ASN][1000 genomes]
rs11675846	0.85[ASN][1000 genomes]
rs13398034	0.96[ASN][1000 genomes]
rs13406769	0.88[ASN][1000 genomes]
rs13411586	0.94[ASN][1000 genomes]
rs1427283	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1559987	0.87[ASN][1000 genomes]
rs3754945	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58742879	0.88[ASN][1000 genomes]
rs58941251	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60304451	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193374	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62193375	0.96[ASN][1000 genomes]
rs62193377	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62193379	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62193406	0.88[ASN][1000 genomes]
rs62193407	0.88[ASN][1000 genomes]
rs62193410	0.88[ASN][1000 genomes]
rs9678342	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2751844	chr2:231179495-231280495	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription 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 lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv875947	chr2:231190446-231281286	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv521344	chr2:231267925-231281286	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv584671	chr2:231273229-231284556	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231276800-231278000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr2:231277000-231278000	Enhancers	Spleen	Spleen
3	chr2:231277000-231278200	Enhancers	Fetal Heart	heart
4	chr2:231277000-231278200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr2:231277200-231278000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:231277200-231278000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr2:231277200-231278000	Enhancers	Left Ventricle	heart
8	chr2:231277200-231278000	Enhancers	Lung	lung
9	chr2:231277200-231278200	Enhancers	Right Ventricle	heart
10	chr2:231277200-231278400	Enhancers	Esophagus	oesophagus
11	chr2:231277200-231278400	Enhancers	Right Atrium	heart
12	chr2:231277200-231278800	Enhancers	Stomach Mucosa	stomach
13	chr2:231277200-231278800	Weak transcription	HMEC	breast
14	chr2:231277200-231279000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:231277200-231279600	Weak transcription	NHDF-Ad	bronchial
16	chr2:231277200-231280400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:231277200-231280400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:231277200-231280400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr2:231277200-231280400	Weak transcription	Aorta	Aorta
20	chr2:231277200-231280400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:231277200-231280400	Weak transcription	Psoas Muscle	Psoas
22	chr2:231277200-231280400	Weak transcription	Small Intestine	intestine
23	chr2:231277200-231280400	Weak transcription	HSMM	muscle
24	chr2:231277200-231280400	Weak transcription	HSMMtube	muscle
25	chr2:231277200-231280400	Weak transcription	NH-A	brain
26	chr2:231277200-231280800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:231277400-231278000	Enhancers	Colonic Mucosa	Colon
28	chr2:231277400-231278000	Enhancers	Duodenum Mucosa	Duodenum
29	chr2:231277400-231278000	Enhancers	Dnd41	blood
30	chr2:231277400-231278200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:231277400-231278400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:231277400-231278400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:231277400-231278600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:231277400-231278600	Weak transcription	Fetal Intestine Small	intestine
35	chr2:231277400-231278600	Enhancers	GM12878-XiMat	blood
36	chr2:231277400-231278800	Enhancers	Liver	Liver
37	chr2:231277400-231279000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:231277400-231279200	Weak transcription	Placenta	Placenta
39	chr2:231277400-231279800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr2:231277400-231279800	Weak transcription	Osteobl	bone
41	chr2:231277400-231280000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:231277400-231280000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:231277400-231280200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:231277400-231280200	Enhancers	Primary T cells from cord blood	blood
45	chr2:231277400-231280200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:231277400-231280200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:231277400-231280200	Weak transcription	HUVEC	blood vessel
48	chr2:231277400-231280400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr2:231277400-231280400	Enhancers	Primary B cells from peripheral blood	blood
50	chr2:231277400-231280400	Enhancers	Primary T cells fromperipheralblood	blood

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