Variant report

Variant	rs45598240
Chromosome Location	chr9:102743911-102743912
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:102733300..102734954-chr9:102742523..102745034,2	K562	blood:
2	chr9:102741653..102744592-chr9:102746095..102749712,4	MCF-7	breast:
3	chr9:102741891..102744242-chr9:102746926..102749295,2	MCF-7	breast:
4	chr9:102697113..102699966-chr9:102742596..102744676,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13283434	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13297165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34074593	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34080691	1.00[AMR][1000 genomes]
rs34359782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34632004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34727728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34891619	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35066144	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs35132689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35722336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35906540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71503718	1.00[AMR][1000 genomes]
rs71503719	1.00[AMR][1000 genomes]
rs71503724	1.00[AFR][1000 genomes]
rs71503725	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71503726	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71503728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv831668	chr9:102568169-102747293	Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv1050510	chr9:102684318-102748658	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102682600-102751400	Weak transcription	NH-A	brain
2	chr9:102686400-102750800	Weak transcription	Esophagus	oesophagus
3	chr9:102686600-102750800	Weak transcription	Gastric	stomach
4	chr9:102699800-102765800	Weak transcription	Psoas Muscle	Psoas
5	chr9:102701000-102751000	Weak transcription	Fetal Intestine Small	intestine
6	chr9:102705000-102751200	Weak transcription	Brain Angular Gyrus	brain
7	chr9:102708400-102744000	Weak transcription	NHDF-Ad	bronchial
8	chr9:102711400-102765800	Weak transcription	Right Ventricle	heart
9	chr9:102711400-102769200	Weak transcription	Osteobl	bone
10	chr9:102711800-102749000	Weak transcription	Brain Germinal Matrix	brain
11	chr9:102712200-102765600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:102712400-102751000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:102713200-102765600	Weak transcription	HSMMtube	muscle
14	chr9:102714200-102749200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr9:102718000-102777600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr9:102718800-102751000	Weak transcription	Pancreas	Pancrea
17	chr9:102719000-102765400	Weak transcription	HepG2	liver
18	chr9:102720400-102746400	Weak transcription	Spleen	Spleen
19	chr9:102722400-102751000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:102724000-102751600	Weak transcription	Fetal Brain Male	brain
21	chr9:102724000-102751800	Weak transcription	Fetal Kidney	kidney
22	chr9:102725400-102749000	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:102727400-102750800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:102729400-102764600	Weak transcription	HSMM	muscle
25	chr9:102729600-102765600	Weak transcription	NHEK	skin
26	chr9:102729600-102826800	Weak transcription	HMEC	breast
27	chr9:102730000-102751000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:102730200-102765600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr9:102730800-102745000	Weak transcription	Hela-S3	cervix
30	chr9:102731000-102765600	Weak transcription	NHLF	lung
31	chr9:102731000-102778200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr9:102731400-102746400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr9:102731400-102750800	Weak transcription	Aorta	Aorta
34	chr9:102731400-102751000	Weak transcription	Thymus	Thymus
35	chr9:102731600-102744200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr9:102731600-102751000	Weak transcription	Dnd41	blood
37	chr9:102731800-102751000	Weak transcription	Colonic Mucosa	Colon
38	chr9:102731800-102765600	Weak transcription	Small Intestine	intestine
39	chr9:102732000-102744400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr9:102732000-102751200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr9:102732400-102751000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:102732400-102751000	Weak transcription	Fetal Stomach	stomach
43	chr9:102732600-102750400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:102732600-102765600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr9:102733000-102744000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr9:102733000-102744400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:102733000-102744800	Weak transcription	Fetal Muscle Leg	muscle
48	chr9:102733000-102744800	Weak transcription	Placenta	Placenta
49	chr9:102733000-102750800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr9:102733000-102765600	Weak transcription	Colon Smooth Muscle	Colon

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