Variant report

Variant	rs7744129
Chromosome Location	chr6:13118339-13118340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13116335..13118765-chr6:13119336..13122276,2	K562	blood:
2	chr6:13100023..13102604-chr6:13117122..13119875,2	K562	blood:
3	chr6:13112250..13113799-chr6:13117217..13119459,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11961352	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1223520	1.00[CHB][hapmap]
rs1223521	1.00[CHB][hapmap]
rs1223529	1.00[CHB][hapmap]
rs17375327	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1937766	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1937768	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35902472	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4711910	0.92[JPT][hapmap]
rs6458616	1.00[JPT][hapmap]
rs6458639	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6458641	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6921616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7738252	1.00[JPT][hapmap]
rs7740162	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7769033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9463408	1.00[JPT][hapmap]

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	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7744129	ERVFRDE1	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13113400-13119600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:13113400-13120000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:13113600-13119400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:13113800-13120200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:13114400-13119800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:13114400-13123400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:13114600-13119400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:13114600-13120400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:13114800-13119400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:13115000-13120600	Weak transcription	Brain Angular Gyrus	brain
11	chr6:13115000-13120600	Weak transcription	Right Atrium	heart
12	chr6:13115000-13135400	Weak transcription	Lung	lung
13	chr6:13115800-13119600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:13116000-13120800	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:13116200-13121000	Weak transcription	Aorta	Aorta
16	chr6:13116400-13119000	Weak transcription	Fetal Heart	heart
17	chr6:13116400-13120600	Weak transcription	Fetal Stomach	stomach
18	chr6:13116600-13120600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:13116600-13123400	Weak transcription	Right Ventricle	heart
20	chr6:13117000-13119800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:13117400-13118400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:13117400-13118400	Weak transcription	Pancreas	Pancrea
23	chr6:13117400-13119600	Weak transcription	Brain Anterior Caudate	brain
24	chr6:13117400-13119800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:13118000-13118600	Enhancers	Left Ventricle	heart
26	chr6:13118200-13120400	Weak transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links