Variant report

Variant	rs3095527
Chromosome Location	chr13:51170755-51170756
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	chr13:51165408..51167932-chr13:51169513..51171803,2	K562	blood:
2	chr13:51164156..51167567-chr13:51169457..51171803,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs201762	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2408045	0.81[EUR][1000 genomes]
rs3116599	0.81[CEU][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs3116613	0.81[EUR][1000 genomes]
rs3116615	0.81[EUR][1000 genomes]
rs3116616	0.80[EUR][1000 genomes]
rs3116617	0.81[EUR][1000 genomes]
rs3118905	1.00[JPT][hapmap]
rs3118906	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs3118918	0.81[EUR][1000 genomes]
rs3118920	0.81[EUR][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	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
2	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3095527	DACH1	trans	parietal	SCAN
rs3095527	LPAR6	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51160200-51174000	Enhancers	Primary B cells from peripheral blood	blood
2	chr13:51162200-51172600	Weak transcription	Spleen	Spleen
3	chr13:51166600-51171200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr13:51166600-51171400	Enhancers	Primary hematopoietic stem cells	blood
5	chr13:51166600-51171400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr13:51167800-51170800	Weak transcription	HUVEC	blood vessel
7	chr13:51168000-51173000	Enhancers	Fetal Intestine Small	intestine
8	chr13:51168000-51174000	Enhancers	Fetal Muscle Leg	muscle
9	chr13:51168000-51174400	Enhancers	Fetal Thymus	thymus
10	chr13:51168400-51174000	Enhancers	Left Ventricle	heart
11	chr13:51168800-51173800	Enhancers	Adipose Nuclei	Adipose
12	chr13:51169000-51172600	Weak transcription	Fetal Kidney	kidney
13	chr13:51169000-51173000	Enhancers	HepG2	liver
14	chr13:51169000-51174400	Enhancers	Fetal Heart	heart
15	chr13:51169200-51170800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr13:51169200-51171000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr13:51169200-51174000	Enhancers	Primary B cells from cord blood	blood
18	chr13:51169200-51174000	Enhancers	Thymus	Thymus
19	chr13:51169200-51174200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr13:51169200-51174800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr13:51169400-51170800	Enhancers	GM12878-XiMat	blood
22	chr13:51169400-51171600	Enhancers	Primary T cells from cord blood	blood
23	chr13:51169400-51172200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr13:51169400-51173400	Enhancers	Right Atrium	heart
25	chr13:51169600-51171000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr13:51169600-51172600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr13:51169600-51173200	Weak transcription	Fetal Lung	lung
28	chr13:51169800-51171000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr13:51169800-51174600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr13:51169800-51175000	Enhancers	Dnd41	blood
31	chr13:51170000-51172200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:51170200-51170800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr13:51170200-51171400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr13:51170200-51173400	Enhancers	Fetal Intestine Large	intestine
35	chr13:51170200-51173400	Enhancers	Right Ventricle	heart
36	chr13:51170600-51170800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr13:51170600-51170800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr13:51170600-51171400	Weak transcription	Psoas Muscle	Psoas
39	chr13:51170600-51172200	Weak transcription	Fetal Muscle Trunk	muscle

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