Variant report

Variant	rs17071247
Chromosome Location	chr13:79902158-79902159
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:79902131..79904389-chr13:79920319..79922691,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10507898	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10507899	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs17071233	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17071257	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17071385	1.00[CEU][hapmap]
rs17071415	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17071499	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs17071532	1.00[CEU][hapmap]
rs17071549	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap]
rs17071558	1.00[CEU][hapmap]
rs61151618	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6563107	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6563117	1.00[CEU][hapmap]
rs7331979	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs73560552	0.92[EUR][1000 genomes]
rs73562539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7491258	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs7992181	1.00[CEU][hapmap]
rs7997554	1.00[CEU][hapmap];0.94[YRI][hapmap]
rs8000870	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900586	chr13:79892722-79968467	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv900587	chr13:79894736-79956691	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79882200-79907400	Weak transcription	Fetal Muscle Leg	muscle
2	chr13:79882200-79907600	Weak transcription	Brain Anterior Caudate	brain
3	chr13:79882200-79909800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:79882400-79904400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr13:79882400-79905000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr13:79882400-79911200	Weak transcription	Left Ventricle	heart
7	chr13:79882400-79911200	Weak transcription	Ovary	ovary
8	chr13:79882400-79914400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr13:79882400-79925000	Weak transcription	HSMMtube	muscle
10	chr13:79884000-79905200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:79884400-79909000	Weak transcription	Brain Hippocampus Middle	brain
12	chr13:79886400-79911200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:79886600-79950200	Weak transcription	Fetal Brain Male	brain
14	chr13:79887000-79904600	Weak transcription	Brain Substantia Nigra	brain
15	chr13:79887000-79907800	Weak transcription	Colon Smooth Muscle	Colon
16	chr13:79887200-79946600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr13:79887800-79907800	Weak transcription	NHLF	lung
18	chr13:79888000-79942800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:79888200-79947000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr13:79888400-79947000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr13:79889400-79905000	Weak transcription	Fetal Intestine Small	intestine
22	chr13:79889400-79909800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr13:79889600-79907800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr13:79889800-79909800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:79889800-79916200	Weak transcription	Fetal Heart	heart
26	chr13:79890400-79905000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr13:79891400-79911200	Weak transcription	Esophagus	oesophagus
28	chr13:79891600-79905000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr13:79891600-79911200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr13:79891600-79946800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr13:79891600-79947000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr13:79891600-79947000	Strong transcription	Dnd41	blood
33	chr13:79891800-79929200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr13:79891800-79935800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr13:79892400-79904600	Weak transcription	Primary T cells from cord blood	blood
36	chr13:79892400-79905200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr13:79892400-79907600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr13:79892800-79928200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:79893200-79906000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr13:79893200-79907800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr13:79893200-79957800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr13:79893600-79909400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr13:79894200-79910000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr13:79894200-79940200	Weak transcription	Small Intestine	intestine
45	chr13:79894400-79909200	Weak transcription	Brain Germinal Matrix	brain
46	chr13:79894400-79910600	Weak transcription	Thymus	Thymus
47	chr13:79894400-79950200	Weak transcription	Stomach Mucosa	stomach
48	chr13:79894800-79904000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr13:79895200-79909400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr13:79895800-79905200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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