Variant report

Variant	rs73303985
Chromosome Location	chr17:19847250-19847251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12325682	0.90[AFR][1000 genomes]
rs12325689	0.82[AFR][1000 genomes]
rs59774597	0.90[AFR][1000 genomes]
rs60818106	0.83[AFR][1000 genomes]
rs61093861	1.00[AFR][1000 genomes]
rs61612850	0.95[AFR][1000 genomes]
rs61648246	0.90[AFR][1000 genomes]
rs61655182	1.00[AFR][1000 genomes]
rs73296034	0.95[AFR][1000 genomes]
rs73296042	0.90[AFR][1000 genomes]
rs73296051	0.88[AFR][1000 genomes]
rs73296074	0.90[AFR][1000 genomes]
rs73296078	0.85[AFR][1000 genomes]
rs73303979	0.81[AFR][1000 genomes]
rs9652900	0.85[AFR][1000 genomes]
rs9652901	0.85[AFR][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	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr17:19802800-19852400	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr17:19803000-19851800	Strong transcription	Fetal Thymus	thymus
3	chr17:19803600-19848000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:19804000-19853000	Strong transcription	Dnd41	blood
5	chr17:19825200-19848400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr17:19825200-19851800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:19827600-19851600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr17:19827600-19852800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr17:19830600-19851200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:19831600-19851400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr17:19838600-19851600	Weak transcription	Psoas Muscle	Psoas
12	chr17:19839800-19849800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr17:19840000-19849400	Weak transcription	Colonic Mucosa	Colon
14	chr17:19840000-19851600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr17:19840000-19879200	Weak transcription	Fetal Brain Male	brain
16	chr17:19840200-19848200	Weak transcription	K562	blood
17	chr17:19841200-19848200	Weak transcription	Fetal Brain Female	brain
18	chr17:19841600-19848600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:19841600-19852800	Strong transcription	Primary B cells from cord blood	blood
20	chr17:19841800-19851600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr17:19841800-19852600	Strong transcription	Fetal Intestine Large	intestine
22	chr17:19842000-19850000	Weak transcription	Gastric	stomach
23	chr17:19842000-19850000	Weak transcription	Pancreas	Pancrea
24	chr17:19842000-19852600	Strong transcription	Hela-S3	cervix
25	chr17:19842400-19850000	Weak transcription	Aorta	Aorta
26	chr17:19842400-19851800	Strong transcription	Primary hematopoietic stem cells	blood
27	chr17:19842600-19851600	Strong transcription	GM12878-XiMat	blood
28	chr17:19843000-19850000	Weak transcription	Right Ventricle	heart
29	chr17:19843200-19848600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr17:19843200-19848800	Weak transcription	Esophagus	oesophagus
31	chr17:19843200-19848800	Weak transcription	Spleen	Spleen
32	chr17:19844400-19849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr17:19844600-19848200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr17:19844600-19848200	Weak transcription	NHLF	lung
35	chr17:19844600-19848600	Weak transcription	Fetal Lung	lung
36	chr17:19844600-19849800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr17:19844600-19849800	Weak transcription	HUVEC	blood vessel
38	chr17:19844600-19850000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr17:19844600-19850000	Weak transcription	NH-A	brain
40	chr17:19844600-19851400	Weak transcription	Brain Substantia Nigra	brain
41	chr17:19844600-19851600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr17:19844600-19851800	Weak transcription	Small Intestine	intestine
43	chr17:19844600-19859200	Weak transcription	NHDF-Ad	bronchial
44	chr17:19844800-19848000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr17:19844800-19848800	Weak transcription	NHEK	skin
46	chr17:19844800-19849400	Weak transcription	HMEC	breast
47	chr17:19844800-19849600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr17:19844800-19851000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr17:19844800-19851600	Weak transcription	Fetal Heart	heart
50	chr17:19844800-19853000	Strong transcription	HepG2	liver

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