Variant report

Variant	rs17091835
Chromosome Location	chr14:35845591-35845592
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35845552..35847361-chr14:35872348..35873980,2	K562	blood:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1073597	0.84[EUR][1000 genomes]
rs11156883	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs11621391	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs11622212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103104	1.00[MEX][hapmap]
rs17103120	1.00[MEX][hapmap]
rs17103226	0.87[CHD][hapmap];0.89[JPT][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs17103240	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs17103242	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs17103246	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs17103255	0.81[EUR][1000 genomes]
rs2013724	1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs4272943	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs4326954	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
3	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
4	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17091835	PPP2R3C	cis	Whole Blood	GTEx
rs17091835	C14orf10	cis	multi-tissue	Pritchard
rs17091835	NKX2-1	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35837400-35852400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:35838800-35847600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:35839600-35852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr14:35841600-35853000	Weak transcription	Right Atrium	heart
5	chr14:35842000-35846000	Enhancers	Placenta	Placenta
6	chr14:35843000-35846000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr14:35843200-35850000	Enhancers	Hela-S3	cervix
8	chr14:35843600-35852400	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:35844000-35845600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:35844000-35845800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:35844000-35846000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr14:35844000-35846000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:35844000-35846400	Enhancers	A549	lung
14	chr14:35844000-35847600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:35844000-35847600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr14:35844000-35848800	Weak transcription	Fetal Intestine Large	intestine
17	chr14:35844000-35849400	Weak transcription	Fetal Intestine Small	intestine
18	chr14:35844000-35850200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:35844000-35852800	Weak transcription	HUVEC	blood vessel
20	chr14:35844200-35846000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr14:35844200-35847400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:35844200-35847800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr14:35844200-35847800	Weak transcription	Osteobl	bone
24	chr14:35844200-35849800	Weak transcription	Adipose Nuclei	Adipose
25	chr14:35844600-35846200	Enhancers	K562	blood
26	chr14:35845000-35845600	Enhancers	Spleen	Spleen
27	chr14:35845000-35845800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr14:35845000-35845800	Enhancers	Primary hematopoietic stem cells	blood
29	chr14:35845000-35846000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:35845000-35846000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr14:35845000-35846000	Enhancers	Fetal Muscle Trunk	muscle
32	chr14:35845000-35846000	Enhancers	Lung	lung
33	chr14:35845200-35845600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:35845200-35845600	Bivalent Enhancer	HepG2	liver
35	chr14:35845200-35846000	Enhancers	Fetal Thymus	thymus
36	chr14:35845200-35846200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:35845200-35847200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:35845400-35847600	Weak transcription	NHDF-Ad	bronchial
39	chr14:35845400-35848200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:35845400-35852400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links