Variant report

Variant	rs74042195
Chromosome Location	chr14:31714061-31714062
allele	A/G
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	FOXA1	chr14:31713798-31714251	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000257831	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17097777	1.00[AMR][1000 genomes]
rs1961347	1.00[AMR][1000 genomes]
rs58162259	1.00[AMR][1000 genomes]
rs59197504	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042188	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042190	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042191	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042192	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042193	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042202	1.00[AMR][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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31707800-31730800	Weak transcription	Pancreas	Pancrea
2	chr14:31710600-31715200	Enhancers	Stomach Mucosa	stomach
3	chr14:31711400-31716600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:31711600-31720400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr14:31712000-31714800	Weak transcription	Ovary	ovary
6	chr14:31712200-31714400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:31712200-31714800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr14:31712400-31714200	Enhancers	NHEK	skin
9	chr14:31712600-31714200	Enhancers	HMEC	breast
10	chr14:31713000-31714200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr14:31713000-31714200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr14:31713000-31714200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr14:31713000-31714200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:31713000-31714200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr14:31713200-31714200	Enhancers	HepG2	liver
16	chr14:31713600-31714200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr14:31713800-31714200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr14:31713800-31720800	Weak transcription	Fetal Intestine Small	intestine
19	chr14:31713800-31722200	Weak transcription	Lung	lung
20	chr14:31714000-31714200	Enhancers	A549	lung

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