Variant report

Variant	rs17014134
Chromosome Location	chr2:127436130-127436131
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	chr2:127435911-127436413	HL-60	blood:	n/a	n/a
2	POLR2A	chr2:127435922-127440609	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127434549..127436811-chr2:127437779..127440229,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC114783.1.1-6	chr2:127435877-127436463	NONHSAT074133

Variant related genes	Relation type
ENSG00000235128	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12465294	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17014125	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17014131	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17014139	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28387131	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28387169	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4143021	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6711745	0.83[CHD][hapmap]
rs908641	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.92[TSI][hapmap]

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	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1813823	chr2:127417657-127441005	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv875007	chr2:127426697-127454230	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv875008	chr2:127426754-127436469	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3325322	chr2:127432782-127437080	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127417200-127443600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
3	chr2:127424200-127451000	Weak transcription	NHLF	lung
4	chr2:127424600-127447600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:127428000-127446400	Weak transcription	NHDF-Ad	bronchial
6	chr2:127429000-127442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:127430800-127444000	Weak transcription	Psoas Muscle	Psoas
8	chr2:127432200-127441400	Weak transcription	Fetal Heart	heart
9	chr2:127432800-127443400	Weak transcription	Thymus	Thymus
10	chr2:127433400-127439400	Weak transcription	Left Ventricle	heart
11	chr2:127433600-127437400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:127433600-127451400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:127433800-127436600	Weak transcription	Fetal Thymus	thymus
14	chr2:127433800-127437400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:127433800-127438200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:127433800-127441000	Weak transcription	GM12878-XiMat	blood
17	chr2:127433800-127452600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:127434000-127436400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr2:127434000-127441200	Weak transcription	Fetal Lung	lung
20	chr2:127434000-127446200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:127434000-127451000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:127434000-127451000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:127434200-127436200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr2:127434200-127436800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:127434200-127437800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:127434200-127457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:127434400-127445400	Strong transcription	Fetal Stomach	stomach
28	chr2:127434600-127436600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr2:127434600-127439400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr2:127434800-127436200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:127434800-127436800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:127434800-127437000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:127434800-127437600	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:127434800-127439000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:127434800-127439600	Weak transcription	Esophagus	oesophagus
36	chr2:127434800-127441000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:127434800-127453000	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:127434800-127453200	Weak transcription	Placenta	Placenta
39	chr2:127435000-127438200	Weak transcription	Ovary	ovary
40	chr2:127435000-127445800	Weak transcription	Gastric	stomach
41	chr2:127435200-127436200	Strong transcription	Primary T cells from cord blood	blood
42	chr2:127435200-127436600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:127435200-127437600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:127435200-127437600	Weak transcription	Primary B cells from cord blood	blood
45	chr2:127435200-127438000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:127435200-127444600	Weak transcription	Pancreas	Pancrea
47	chr2:127435200-127457400	Weak transcription	Fetal Kidney	kidney
48	chr2:127435400-127436200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr2:127435400-127439400	Weak transcription	Right Ventricle	heart
50	chr2:127435400-127441400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links