Variant report

Variant	rs706615
Chromosome Location	chr13:50706551-50706552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50706476..50709155-chr13:50710737..50712323,2	MCF-7	breast:
2	chr13:50651411..50654325-chr13:50705233..50708139,2	K562	blood:
3	chr13:50705117..50708604-chr13:51483394..51486534,3	K562	blood:
4	chr13:50654107..50658671-chr13:50702301..50706921,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction
ENSG00000136104	Chromatin interaction
ENSG00000233672	Chromatin interaction
ENSG00000176124	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs2066550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2472395	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2476389	0.82[EUR][1000 genomes]
rs2476391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2490636	0.82[EUR][1000 genomes]
rs2490637	0.82[EUR][1000 genomes]
rs2490638	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2490639	0.82[EUR][1000 genomes]
rs2687933	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2687934	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2687935	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2687936	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2812223	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34047395	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs706609	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73489867	0.82[EUR][1000 genomes]
rs790528	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790529	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790531	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790928	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790931	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs790934	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs790935	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790940	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790941	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50704800-50707000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:50705000-50706800	Bivalent Enhancer	Fetal Heart	heart
3	chr13:50705000-50707200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
4	chr13:50705000-50707400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr13:50705200-50707200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
6	chr13:50705200-50707200	Bivalent Enhancer	NH-A	brain
7	chr13:50705400-50706600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr13:50705400-50706600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr13:50705400-50706600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:50705400-50707400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
11	chr13:50705600-50706600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr13:50705600-50706600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr13:50705600-50706600	Weak transcription	Right Ventricle	heart
14	chr13:50705600-50706800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
15	chr13:50705600-50706800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr13:50705600-50706800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
17	chr13:50705600-50707000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr13:50705800-50706600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
19	chr13:50705800-50706800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr13:50705800-50707400	Bivalent Enhancer	Fetal Thymus	thymus
21	chr13:50706000-50706800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
22	chr13:50706000-50707000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr13:50706000-50707000	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr13:50706200-50706600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:50706200-50706600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr13:50706200-50706800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
27	chr13:50706200-50707000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:50706200-50707000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
29	chr13:50706200-50707000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr13:50706200-50707200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr13:50706200-50707200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr13:50706200-50707600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr13:50706400-50706600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
34	chr13:50706400-50706600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
35	chr13:50706400-50706600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
36	chr13:50706400-50706600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
37	chr13:50706400-50706600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr13:50706400-50706600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:50706400-50706800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr13:50706400-50706800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr13:50706400-50706800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:50706400-50706800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:50706400-50706800	Bivalent Enhancer	Liver	Liver
44	chr13:50706400-50706800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
45	chr13:50706400-50706800	Bivalent/Poised TSS	Thymus	Thymus
46	chr13:50706400-50707000	Bivalent Enhancer	Fetal Kidney	kidney
47	chr13:50706400-50707000	Enhancers	Right Atrium	heart
48	chr13:50706400-50707000	Bivalent Enhancer	GM12878-XiMat	blood
49	chr13:50706400-50707200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
50	chr13:50706400-50707400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood

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