Variant report

Variant	rs7990600
Chromosome Location	chr13:97886168-97886169
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:97885894..97888799-chr13:97909158..97911920,2	K562	blood:
2	chr13:97886043..97888309-chr13:97889917..97892337,2	MCF-7	breast:
3	chr13:97883639..97888223-chr13:97888845..97894728,6	K562	blood:
4	chr13:97884228..97886118-chr13:97886158..97888299,2	K562	blood:
5	chr13:97885101..97888223-chr13:97890978..97895082,5	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1410758	0.88[AFR][1000 genomes]
rs17235537	0.88[AFR][1000 genomes]
rs17235551	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs17301299	0.88[AFR][1000 genomes]
rs17301306	0.88[AFR][1000 genomes]
rs4120984	0.88[AFR][1000 genomes]
rs6491339	0.88[AFR][1000 genomes]
rs6491340	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6491342	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7324333	0.82[YRI][hapmap]
rs7991020	0.88[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045777	chr13:97875574-97955134	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97876600-97893800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:97878200-97896600	Weak transcription	HSMMtube	muscle
3	chr13:97879600-97886600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr13:97879800-97886200	Genic enhancers	HepG2	liver
5	chr13:97879800-97887800	Enhancers	Right Atrium	heart
6	chr13:97879800-97893200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:97880200-97886200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:97880200-97886200	Enhancers	Fetal Lung	lung
9	chr13:97880200-97886600	Weak transcription	Esophagus	oesophagus
10	chr13:97880400-97886200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr13:97880400-97886200	Enhancers	K562	blood
12	chr13:97880400-97887200	Weak transcription	Fetal Kidney	kidney
13	chr13:97880400-97888800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr13:97880400-97899400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr13:97880600-97886400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr13:97880600-97890600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:97880600-97890600	Weak transcription	GM12878-XiMat	blood
18	chr13:97881200-97889800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr13:97881400-97887000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr13:97881800-97888000	Weak transcription	NHEK	skin
21	chr13:97881800-97890000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr13:97881800-97891400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:97882000-97886400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:97882000-97890200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr13:97882000-97893200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:97882200-97891800	Weak transcription	HMEC	breast
27	chr13:97882800-97892000	Strong transcription	Primary B cells from cord blood	blood
28	chr13:97883000-97888200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr13:97883200-97890800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr13:97883400-97886200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
31	chr13:97883400-97888600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr13:97883600-97887800	Strong transcription	Primary T cells from cord blood	blood
33	chr13:97883600-97891800	Genic enhancers	Liver	Liver
34	chr13:97883800-97886200	Enhancers	Brain Cingulate Gyrus	brain
35	chr13:97883800-97886800	Enhancers	Rectal Smooth Muscle	rectum
36	chr13:97883800-97887800	Enhancers	Brain Substantia Nigra	brain
37	chr13:97884000-97886200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:97884000-97886400	Weak transcription	Hela-S3	cervix
39	chr13:97884000-97886600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr13:97884000-97886600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr13:97884000-97887000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:97884000-97888000	Weak transcription	Gastric	stomach
43	chr13:97884000-97888200	Weak transcription	Spleen	Spleen
44	chr13:97884000-97889400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr13:97884000-97890400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr13:97884200-97886200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr13:97884200-97887000	Weak transcription	NHDF-Ad	bronchial
48	chr13:97884200-97888000	Enhancers	Lung	lung
49	chr13:97884200-97891200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr13:97884200-97893800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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