Variant report

Variant	rs7716616
Chromosome Location	chr5:36703975-36703976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36701247..36704029-chr5:36711185..36713020,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1019769	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1019770	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1541815	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2033225	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36683	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv880571	chr5:36675699-36710205	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7716616	SLC1A3	Cis_1M	lymphoblastoid	RTeQTL
rs7716616	CAPSL	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36700200-36724200	Weak transcription	Primary T cells from cord blood	blood
2	chr5:36701000-36704800	Enhancers	Fetal Lung	lung
3	chr5:36701400-36706600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:36701400-36706600	Weak transcription	Spleen	Spleen
5	chr5:36701400-36707000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:36701400-36707400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:36701600-36704000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:36702400-36704200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:36702800-36704000	Enhancers	Right Ventricle	heart
10	chr5:36702800-36704600	Enhancers	Right Atrium	heart
11	chr5:36702800-36706000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:36702800-36707400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:36703000-36707400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr5:36703000-36707600	Strong transcription	Primary B cells from cord blood	blood
15	chr5:36703200-36704000	Enhancers	Hela-S3	cervix
16	chr5:36703200-36704000	Genic enhancers	Monocytes-CD14+_RO01746	blood
17	chr5:36703200-36706800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:36703200-36707200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:36703400-36704000	Genic enhancers	Primary monocytes fromperipheralblood	blood
20	chr5:36703400-36704000	Enhancers	Adipose Nuclei	Adipose
21	chr5:36703400-36704600	Enhancers	Fetal Heart	heart
22	chr5:36703400-36704600	Enhancers	Psoas Muscle	Psoas
23	chr5:36703400-36705400	Enhancers	K562	blood
24	chr5:36703400-36706200	Enhancers	Fetal Muscle Leg	muscle
25	chr5:36703600-36704000	Flanking Active TSS	NHEK	skin
26	chr5:36703600-36704600	Enhancers	Stomach Smooth Muscle	stomach
27	chr5:36703600-36707600	Strong transcription	GM12878-XiMat	blood
28	chr5:36703800-36704600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:36703800-36705000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr5:36703800-36705200	Weak transcription	Left Ventricle	heart
31	chr5:36703800-36705400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr5:36703800-36707400	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links