Variant report

Variant	rs7999767
Chromosome Location	chr13:49759006-49759007
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	chr13:49756876..49759843-chr13:49759884..49762153,3	K562	blood:

Variant related genes	Relation type
ENSG00000235957	Chromatin interaction

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

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

rs_ID	r²[population]
rs1407826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1937182	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1983806	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]
rs2181906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2987534	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3012124	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]
rs3012130	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3012134	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4942806	1.00[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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61517389	1.00[AMR][1000 genomes]
rs6561495	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6561498	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]
rs6561508	1.00[AMR][1000 genomes]
rs6561516	0.89[JPT][hapmap]
rs6650333	1.00[AMR][1000 genomes]
rs7321706	0.90[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];1.00[ASN][1000 genomes]
rs7338704	1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912193	0.95[ASN][1000 genomes]
rs912547	0.89[JPT][hapmap]
rs928039	0.90[ASN][1000 genomes]
rs9316432	1.00[AMR][1000 genomes]
rs9535196	0.90[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	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
2	chr13:49724400-49765000	Weak transcription	A549	lung
3	chr13:49736400-49760000	Weak transcription	NHLF	lung
4	chr13:49737800-49788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:49738000-49777000	Weak transcription	Small Intestine	intestine
6	chr13:49738400-49762000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:49738400-49785200	Strong transcription	Liver	Liver
8	chr13:49738600-49761400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr13:49738600-49785000	Strong transcription	Dnd41	blood
10	chr13:49738800-49761800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr13:49739000-49761800	Weak transcription	Brain Hippocampus Middle	brain
12	chr13:49739000-49768200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:49739000-49774200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:49739600-49786400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:49740000-49761600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr13:49740200-49786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:49740400-49762400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:49740400-49784800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr13:49740600-49768400	Strong transcription	Fetal Thymus	thymus
20	chr13:49740600-49769000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr13:49740600-49772800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:49740600-49786600	Strong transcription	Placenta	Placenta
23	chr13:49740800-49762400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr13:49741600-49783400	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr13:49742600-49783400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr13:49742800-49774400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr13:49744600-49761200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr13:49745600-49783400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr13:49747400-49762600	Weak transcription	Pancreas	Pancrea
30	chr13:49747400-49764000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:49747400-49766400	Weak transcription	Aorta	Aorta
32	chr13:49747400-49772000	Weak transcription	Esophagus	oesophagus
33	chr13:49747400-49772000	Weak transcription	Spleen	Spleen
34	chr13:49747800-49762800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr13:49748800-49790600	Weak transcription	K562	blood
36	chr13:49749400-49767600	Strong transcription	Primary hematopoietic stem cells	blood
37	chr13:49749400-49768200	Strong transcription	Fetal Intestine Large	intestine
38	chr13:49749400-49774000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr13:49750200-49769000	Strong transcription	Fetal Muscle Leg	muscle
40	chr13:49750800-49766200	Strong transcription	HSMM	muscle
41	chr13:49750800-49768400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr13:49751200-49768200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr13:49751400-49767800	Strong transcription	NH-A	brain
44	chr13:49752600-49759400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr13:49752600-49762600	Weak transcription	Fetal Brain Male	brain
46	chr13:49752600-49763200	Strong transcription	HSMMtube	muscle
47	chr13:49753000-49761400	Weak transcription	Brain Germinal Matrix	brain
48	chr13:49753200-49760200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr13:49753200-49761200	Weak transcription	Brain Substantia Nigra	brain
50	chr13:49753200-49762400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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