Variant report

Variant	rs568995
Chromosome Location	chr13:51170010-51170011
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: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1239685	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1239694	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1239701	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1239704	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs706598	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs770387	0.91[EUR][1000 genomes]
rs947381	0.92[EUR][1000 genomes];0.84[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	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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51159400-51170600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:51160200-51174000	Enhancers	Primary B cells from peripheral blood	blood
3	chr13:51162200-51172600	Weak transcription	Spleen	Spleen
4	chr13:51162400-51170200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:51166600-51171200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr13:51166600-51171400	Enhancers	Primary hematopoietic stem cells	blood
7	chr13:51166600-51171400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr13:51166800-51170200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr13:51167800-51170800	Weak transcription	HUVEC	blood vessel
10	chr13:51168000-51170600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr13:51168000-51173000	Enhancers	Fetal Intestine Small	intestine
12	chr13:51168000-51174000	Enhancers	Fetal Muscle Leg	muscle
13	chr13:51168000-51174400	Enhancers	Fetal Thymus	thymus
14	chr13:51168400-51174000	Enhancers	Left Ventricle	heart
15	chr13:51168600-51170600	Enhancers	Fetal Muscle Trunk	muscle
16	chr13:51168800-51170400	Enhancers	Fetal Stomach	stomach
17	chr13:51168800-51173800	Enhancers	Adipose Nuclei	Adipose
18	chr13:51169000-51170200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:51169000-51170200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:51169000-51172600	Weak transcription	Fetal Kidney	kidney
21	chr13:51169000-51173000	Enhancers	HepG2	liver
22	chr13:51169000-51174400	Enhancers	Fetal Heart	heart
23	chr13:51169200-51170200	Weak transcription	Fetal Intestine Large	intestine
24	chr13:51169200-51170400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr13:51169200-51170800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr13:51169200-51171000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr13:51169200-51174000	Enhancers	Primary B cells from cord blood	blood
28	chr13:51169200-51174000	Enhancers	Thymus	Thymus
29	chr13:51169200-51174200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr13:51169200-51174800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr13:51169400-51170800	Enhancers	GM12878-XiMat	blood
32	chr13:51169400-51171600	Enhancers	Primary T cells from cord blood	blood
33	chr13:51169400-51172200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr13:51169400-51173400	Enhancers	Right Atrium	heart
35	chr13:51169600-51171000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr13:51169600-51172600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr13:51169600-51173200	Weak transcription	Fetal Lung	lung
38	chr13:51169800-51170200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr13:51169800-51171000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr13:51169800-51174600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr13:51169800-51175000	Enhancers	Dnd41	blood
42	chr13:51170000-51172200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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