Variant report

Variant	rs17011403
Chromosome Location	chr2:31608435-31608436
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	NFIC	chr2:31606973-31608549	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr2:31608349-31608448	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr2:31607005-31608628	A549	lung:	n/a	chr2:31607409-31607418
4	MAX	chr2:31607046-31608614	A549	lung:	n/a	chr2:31607409-31607418
5	SMARCC1	chr2:31607222-31608543	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
XDH	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10199855	0.87[YRI][hapmap]
rs1115320	0.84[AFR][1000 genomes]
rs1346645	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17011365	1.00[MEX][hapmap]
rs17011434	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2217366	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34929837	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45482594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45503200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45604535	1.00[AMR][1000 genomes]
rs45612738	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs992137	0.87[YRI][hapmap]
rs992138	1.00[YRI][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	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv2762446	chr2:31521093-31610311	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv456030	chr2:31598823-31820256	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv456041	chr2:31598823-31820256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv581269	chr2:31598823-31820256	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv998853	chr2:31601455-31858961	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1005565	chr2:31603134-31868877	Genic enhancers Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31548000-31634600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:31565200-31633000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:31574600-31636600	Weak transcription	Colonic Mucosa	Colon
4	chr2:31586000-31613000	Weak transcription	Small Intestine	intestine
5	chr2:31598400-31639000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:31599600-31636600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:31602200-31613400	Strong transcription	Duodenum Mucosa	Duodenum
8	chr2:31602800-31614200	Strong transcription	Liver	Liver
9	chr2:31603000-31612000	Strong transcription	Fetal Intestine Large	intestine
10	chr2:31603000-31612400	Strong transcription	Fetal Intestine Small	intestine
11	chr2:31604200-31609400	Enhancers	Placenta	Placenta
12	chr2:31604600-31608600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:31604600-31609800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:31605200-31608600	Enhancers	NH-A	brain
15	chr2:31605200-31608800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:31605200-31609000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:31605200-31609600	Genic enhancers	HMEC	breast
18	chr2:31605200-31612600	Genic enhancers	NHEK	skin
19	chr2:31605400-31608600	Enhancers	NHLF	lung
20	chr2:31605400-31609600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:31605600-31608600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:31605600-31608800	Enhancers	NHDF-Ad	bronchial
23	chr2:31605800-31608600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:31606200-31609200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:31606200-31610600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:31606600-31612600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:31607600-31608800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:31607800-31608800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:31607800-31609200	Weak transcription	GM12878-XiMat	blood
30	chr2:31607800-31609400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:31607800-31609400	Enhancers	Hela-S3	cervix
32	chr2:31607800-31614400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:31608000-31608600	Active TSS	Spleen	Spleen
34	chr2:31608000-31608800	Enhancers	Esophagus	oesophagus
35	chr2:31608000-31609200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:31608000-31609400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:31608200-31608600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:31608200-31609400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:31608400-31608600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:31608400-31608800	Enhancers	A549	lung
41	chr2:31608400-31609800	Enhancers	Monocytes-CD14+_RO01746	blood

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