Variant report

Variant	rs2250339
Chromosome Location	chr14:38669257-38669258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2250334	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812099	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
2	nsv533235	chr14:38558180-39117391	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832773	chr14:38612778-38785003	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38658600-38670600	Weak transcription	Right Atrium	heart
2	chr14:38662800-38671600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:38664200-38672000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:38665600-38669400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:38666200-38669400	Strong transcription	H9 Cell Line	embryonic stem cell
6	chr14:38666200-38672400	Enhancers	Hela-S3	cervix
7	chr14:38666600-38669400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:38666600-38669600	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:38667200-38669400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:38668000-38669800	Enhancers	Fetal Lung	lung
11	chr14:38668000-38673200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr14:38668200-38670600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:38668400-38670000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr14:38668400-38670800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:38668400-38671200	Enhancers	NHEK	skin
16	chr14:38668400-38672000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:38668600-38670000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:38668600-38672000	Enhancers	Stomach Mucosa	stomach
19	chr14:38668800-38669600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:38668800-38670000	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr14:38669000-38670600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:38669000-38674200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:38669200-38670200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr14:38669200-38670600	Weak transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links