Variant report

Variant	rs71439740
Chromosome Location	chr13:38492296-38492297
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:38485175..38486789-chr13:38490324..38493116,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10161861	0.91[ASN][1000 genomes]
rs10219814	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10467366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10467459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11147677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11617568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11618727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11619577	1.00[ASN][1000 genomes]
rs11620108	0.91[ASN][1000 genomes]
rs12430942	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12864438	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1337647	1.00[ASN][1000 genomes]
rs1415604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1572503	1.00[ASN][1000 genomes]
rs1886201	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1890125	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2225872	1.00[ASN][1000 genomes]
rs2245073	1.00[ASN][1000 genomes]
rs2245074	1.00[ASN][1000 genomes]
rs2255148	0.92[ASN][1000 genomes]
rs2256009	1.00[ASN][1000 genomes]
rs2256119	1.00[ASN][1000 genomes]
rs2265458	1.00[ASN][1000 genomes]
rs2323665	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2485491	1.00[ASN][1000 genomes]
rs2485492	0.96[ASN][1000 genomes]
rs2785959	1.00[ASN][1000 genomes]
rs4943545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4943546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4943550	0.91[ASN][1000 genomes]
rs4943552	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61955036	1.00[ASN][1000 genomes]
rs67142536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9315522	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9315523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9315524	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9315525	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9315530	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9532136	1.00[ASN][1000 genomes]
rs9532137	1.00[ASN][1000 genomes]
rs9548098	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548099	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548101	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548102	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548103	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548110	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548111	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548114	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548117	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9548121	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9548129	1.00[ASN][1000 genomes]
rs9548136	1.00[ASN][1000 genomes]
rs9594241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9594242	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv899996	chr13:38459224-38577056	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv899997	chr13:38480878-38518459	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv899998	chr13:38480878-38582178	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr13:38484200-38494200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:38488200-38494200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:38489200-38492400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr13:38489200-38494000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:38489400-38494000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:38490400-38493400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr13:38490600-38492400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr13:38490800-38493000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:38491400-38492800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr13:38491600-38494000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr13:38492000-38492400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr13:38492000-38493000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:38492000-38494000	Active TSS	Stomach Smooth Muscle	stomach
14	chr13:38492200-38492400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr13:38492200-38492400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:38492200-38492400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:38492200-38492400	Enhancers	Duodenum Mucosa	Duodenum
18	chr13:38492200-38492400	Flanking Active TSS	Ovary	ovary
19	chr13:38492200-38492400	Bivalent Enhancer	NHDF-Ad	bronchial
20	chr13:38492200-38492600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr13:38492200-38492600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr13:38492200-38492600	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr13:38492200-38492600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr13:38492200-38493000	Enhancers	Fetal Intestine Large	intestine
25	chr13:38492200-38493200	Enhancers	Fetal Intestine Small	intestine
26	chr13:38492200-38493400	Enhancers	K562	blood
27	chr13:38492200-38493600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:38492200-38493800	Enhancers	Fetal Heart	heart

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