Variant report

Variant	rs1983806
Chromosome Location	chr13:49711913-49711914
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49709889..49712685-chr13:49713112..49715905,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1407826	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1937182	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2987534	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3012124	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3012130	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3012134	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942806	0.90[ASN][1000 genomes]
rs4942807	1.00[AMR][1000 genomes]
rs57277286	1.00[AMR][1000 genomes]
rs57590763	1.00[AMR][1000 genomes]
rs58064396	1.00[AMR][1000 genomes]
rs58372993	1.00[AMR][1000 genomes]
rs60882749	1.00[EUR][1000 genomes]
rs61192069	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61517389	1.00[AMR][1000 genomes]
rs6561495	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561498	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561508	1.00[AMR][1000 genomes]
rs6561516	0.89[CHD][hapmap];0.89[JPT][hapmap]
rs6650333	1.00[AMR][1000 genomes]
rs7321706	0.89[JPT][hapmap];1.00[EUR][1000 genomes]
rs7326409	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7338704	1.00[CHB][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7999767	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs912193	0.85[ASN][1000 genomes]
rs912547	0.89[CHD][hapmap];0.89[JPT][hapmap]
rs928039	1.00[ASN][1000 genomes]
rs9316432	1.00[AMR][1000 genomes]
rs9535196	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS 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 target site	42 gene(s)	inside rSNPs	diseases
2	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv1796840	chr13:49671215-49760666	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1052168	chr13:49691378-49743696	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49687600-49724200	Weak transcription	Esophagus	oesophagus
2	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
3	chr13:49693600-49737200	Weak transcription	Spleen	Spleen
4	chr13:49699800-49714800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr13:49703000-49712200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:49704400-49720000	Strong transcription	Dnd41	blood
7	chr13:49705000-49720400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:49705200-49712000	Strong transcription	Primary hematopoietic stem cells	blood
9	chr13:49705200-49712200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr13:49705200-49712800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:49705200-49713400	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr13:49705200-49714400	Strong transcription	NHDF-Ad	bronchial
13	chr13:49705200-49714600	Strong transcription	HSMM	muscle
14	chr13:49705200-49714800	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr13:49705200-49715000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:49705200-49715000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr13:49705200-49715600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr13:49705200-49715600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr13:49705200-49716000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:49705200-49717000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:49705200-49717000	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr13:49705200-49717200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr13:49705200-49718200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr13:49705200-49718200	Strong transcription	Fetal Thymus	thymus
25	chr13:49705200-49720400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:49705200-49720600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:49705200-49720600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:49705200-49720600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr13:49705200-49721000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:49705200-49722400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr13:49705200-49723200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr13:49705400-49712400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:49705400-49714600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr13:49705400-49718000	Strong transcription	Primary B cells from peripheral blood	blood
35	chr13:49705400-49726600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr13:49705800-49714800	Weak transcription	Aorta	Aorta
37	chr13:49705800-49737200	Weak transcription	Right Ventricle	heart
38	chr13:49706000-49717400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr13:49706000-49737400	Weak transcription	Gastric	stomach
40	chr13:49706000-49748200	Weak transcription	K562	blood
41	chr13:49706200-49720800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr13:49706400-49712200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr13:49706400-49721400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr13:49706600-49737000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr13:49706800-49737400	Weak transcription	Small Intestine	intestine
46	chr13:49707200-49714000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr13:49707200-49714800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr13:49707200-49721800	Weak transcription	Psoas Muscle	Psoas
49	chr13:49707400-49720800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr13:49707400-49724200	Weak transcription	H9 Cell Line	embryonic stem cell

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