Variant report

Variant	rs7711639
Chromosome Location	chr5:58776204-58776205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1120303	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1457110	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[ASN][1000 genomes]
rs16877169	0.88[ASW][hapmap];0.93[LWK][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes]
rs16889853	0.84[GIH][hapmap]
rs16889865	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs16889869	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1824154	1.00[JPT][hapmap]
rs2081092	0.82[JPT][hapmap]
rs3852147	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41447947	0.84[GIH][hapmap]
rs56261576	0.91[ASN][1000 genomes]
rs6450519	0.86[AFR][1000 genomes]
rs6871710	0.82[ASW][hapmap];0.84[LWK][hapmap]
rs73097337	0.91[ASN][1000 genomes]
rs73097356	0.82[EUR][1000 genomes]
rs7728853	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1028022	chr5:58673780-58786468	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv881706	chr5:58730111-58865857	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv881707	chr5:58741491-58784102	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7711639	C5orf35	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58754600-58780200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:58762000-58778800	Weak transcription	Aorta	Aorta
3	chr5:58762600-58780600	Weak transcription	Fetal Lung	lung
4	chr5:58768800-58779400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:58770200-58779400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:58773800-58776400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:58774000-58783600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:58774600-58783000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:58774800-58779000	Genic enhancers	A549	lung
10	chr5:58775000-58778800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:58775200-58778000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:58775200-58778800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:58775200-58780200	Weak transcription	Brain Substantia Nigra	brain
14	chr5:58775400-58779400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:58775400-58779400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:58775400-58779600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:58775600-58776400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr5:58775600-58778000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:58775600-58780400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:58775800-58779400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:58776200-58777400	Enhancers	Psoas Muscle	Psoas

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