Variant report

Variant	rs10132373
Chromosome Location	chr14:31713711-31713712
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	USF1	chr14:31713593-31713800	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOSL1	chr14:31712948-31713714	HCT-116	colon:	n/a	n/a
3	USF1	chr14:31713609-31713800	H1-hESC	embryonic stem cell:	n/a	n/a
4	SP1	chr14:31712933-31714036	HCT-116	colon:	n/a	n/a
5	JUND	chr14:31712927-31713719	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31705909..31709311-chr14:31711142..31713834,3	K562	blood:
2	chr14:31705909..31710425-chr14:31710546..31713834,4	K562	blood:

Variant related genes	Relation type
ENSG00000257831	TF binding region
ENSG00000202402	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10135213	0.96[EUR][1000 genomes]
rs10138200	0.96[EUR][1000 genomes]
rs10148827	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10151563	0.96[EUR][1000 genomes]
rs1041088	0.96[EUR][1000 genomes]
rs10872849	0.85[EUR][1000 genomes]
rs11156660	0.86[EUR][1000 genomes]
rs11156661	0.86[EUR][1000 genomes]
rs11626839	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12184973	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12434266	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12588620	0.85[EUR][1000 genomes]
rs12889162	0.96[EUR][1000 genomes]
rs2378848	0.86[EUR][1000 genomes]
rs4011661	0.80[EUR][1000 genomes]
rs4981828	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4981832	0.81[EUR][1000 genomes]
rs5024655	0.96[EUR][1000 genomes]
rs61995523	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6571402	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6571403	0.96[EUR][1000 genomes]
rs6571404	0.96[EUR][1000 genomes]
rs7146274	0.86[EUR][1000 genomes]
rs7147686	0.85[EUR][1000 genomes]
rs7156178	0.86[EUR][1000 genomes]
rs7494025	0.96[EUR][1000 genomes]
rs8022573	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9788563	0.96[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	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS 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	26 gene(s)	inside rSNPs	diseases
2	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31707800-31730800	Weak transcription	Pancreas	Pancrea
2	chr14:31709000-31713800	Enhancers	K562	blood
3	chr14:31710600-31715200	Enhancers	Stomach Mucosa	stomach
4	chr14:31711400-31714000	Weak transcription	A549	lung
5	chr14:31711400-31716600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:31711600-31720400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr14:31712000-31714800	Weak transcription	Ovary	ovary
8	chr14:31712200-31714400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:31712200-31714800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr14:31712400-31713800	Enhancers	Esophagus	oesophagus
11	chr14:31712400-31713800	Enhancers	Hela-S3	cervix
12	chr14:31712400-31714200	Enhancers	NHEK	skin
13	chr14:31712600-31714200	Enhancers	HMEC	breast
14	chr14:31713000-31714200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:31713000-31714200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr14:31713000-31714200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr14:31713000-31714200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:31713000-31714200	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr14:31713200-31713800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr14:31713200-31713800	Enhancers	Placenta	Placenta
21	chr14:31713200-31713800	Enhancers	Small Intestine	intestine
22	chr14:31713200-31714200	Enhancers	HepG2	liver
23	chr14:31713400-31713800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:31713400-31714000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr14:31713600-31713800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr14:31713600-31713800	Enhancers	Lung	lung
27	chr14:31713600-31714000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr14:31713600-31714200	Enhancers	Rectal Mucosa Donor 31	rectum

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