Variant report

Variant	rs221420
Chromosome Location	chr14:80049538-80049539
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12433645	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1364603	0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs170248	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs170255	0.83[ASN][1000 genomes]
rs172712	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs17836224	0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs17836226	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs1834242	0.98[ASN][1000 genomes]
rs188780	0.86[ASN][1000 genomes]
rs190092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1991158	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2008380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs221416	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs221418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs221421	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs221423	0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs221427	0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs221429	0.84[ASN][1000 genomes]
rs221432	0.81[ASN][1000 genomes]
rs221434	0.81[ASN][1000 genomes]
rs221435	0.88[CHB][hapmap];0.83[ASN][1000 genomes]
rs2543570	0.83[CHB][hapmap];0.87[ASN][1000 genomes]
rs2543574	0.81[ASN][1000 genomes]
rs2543576	0.83[CHB][hapmap];0.83[ASN][1000 genomes]
rs2543577	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs2543579	0.82[ASN][1000 genomes]
rs2543580	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs2543581	0.82[ASN][1000 genomes]
rs2543582	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs2552416	0.83[ASN][1000 genomes]
rs2552419	0.83[CHB][hapmap];0.83[ASN][1000 genomes]
rs7140480	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs8013736	0.82[CHB][hapmap];0.82[ASN][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	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80011800-80069200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80042200-80051200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:80043600-80050600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr14:80045000-80052200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:80045000-80052200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:80045200-80050800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr14:80045200-80057000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:80045200-80062200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:80047200-80050600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:80047200-80052400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:80047400-80052200	Weak transcription	Fetal Heart	heart
12	chr14:80047400-80057000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:80047600-80049800	Enhancers	A549	lung
14	chr14:80047600-80050600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:80047600-80052200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:80047600-80068800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:80047800-80052200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr14:80048000-80050000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:80048000-80051000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:80048000-80053800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr14:80048200-80049800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:80048200-80050000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:80048200-80052400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:80048200-80053400	Enhancers	NHEK	skin
25	chr14:80048400-80050600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:80048400-80050800	Enhancers	Hela-S3	cervix
27	chr14:80048400-80053600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:80048400-80053600	Enhancers	Osteobl	bone
29	chr14:80048400-80054200	Enhancers	NHLF	lung
30	chr14:80048600-80049600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:80048600-80050400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:80048600-80050400	Weak transcription	NHDF-Ad	bronchial
33	chr14:80048600-80050600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:80048600-80050800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:80049000-80053200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:80049200-80053800	Enhancers	NH-A	brain
37	chr14:80049400-80050400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr14:80049400-80052200	Weak transcription	HMEC	breast
39	chr14:80049400-80052400	Enhancers	HSMMtube	muscle
40	chr14:80049400-80053400	Enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links