Variant report

Variant	rs58811309
Chromosome Location	chr9:100993989-100993990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr9:100993984-100994824	SK-N-SH	brain:	n/a	chr9:100994506-100994515 chr9:100994507-100994516 chr9:100994505-100994516 chr9:100994506-100994516 chr9:100994505-100994517

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:100985570..100988965-chr9:100991767..100994360,5	MCF-7	breast:
2	chr9:100987506..100990430-chr9:100991998..100994397,3	K562	blood:

Variant related genes	Relation type
ENSG00000224001	TF binding region
TBC1D2	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10125738	0.84[EUR][1000 genomes]
rs12345664	0.84[EUR][1000 genomes]
rs16914245	1.00[EUR][1000 genomes]
rs16914425	1.00[EUR][1000 genomes]
rs2050575	0.84[EUR][1000 genomes]
rs57094433	1.00[EUR][1000 genomes]
rs57262924	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57583651	1.00[EUR][1000 genomes]
rs58106044	1.00[EUR][1000 genomes]
rs58523842	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59313219	1.00[EUR][1000 genomes]
rs60489972	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60522491	1.00[EUR][1000 genomes]
rs61349713	1.00[EUR][1000 genomes]
rs61752516	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7032496	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7048858	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488716	1.00[EUR][1000 genomes]
rs73488726	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488748	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488767	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488773	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488774	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488777	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488779	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488785	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490716	1.00[EUR][1000 genomes]
rs73490724	1.00[EUR][1000 genomes]
rs73490729	1.00[EUR][1000 genomes]
rs73490751	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	nsv1053729	chr9:100909554-100997718	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv831663	chr9:100941048-101109492	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1045780	chr9:100943318-101080389	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540180	chr9:100943318-101080389	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100955800-101003200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:100961400-101001400	Weak transcription	Right Atrium	heart
3	chr9:100968400-100995600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr9:100968400-100997600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr9:100968600-101010400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr9:100968800-100998000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:100968800-101011000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr9:100969400-101004800	Weak transcription	Brain Germinal Matrix	brain
9	chr9:100969600-100997200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr9:100970200-101001600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr9:100974800-101010600	Weak transcription	Colon Smooth Muscle	Colon
12	chr9:100976400-100998800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:100980200-101010200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:100981800-101010400	Weak transcription	Fetal Thymus	thymus
15	chr9:100982800-101004600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:100983000-101007200	Weak transcription	Fetal Brain Male	brain
17	chr9:100983200-100996600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr9:100983200-100997600	Weak transcription	Fetal Brain Female	brain
19	chr9:100983400-101006200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:100983600-100994000	Weak transcription	Brain Angular Gyrus	brain
21	chr9:100985600-100998200	Genic enhancers	Fetal Intestine Small	intestine
22	chr9:100985800-101002800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr9:100986000-100995400	Weak transcription	Pancreas	Pancrea
24	chr9:100986000-101006200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr9:100986200-100997600	Weak transcription	HUVEC	blood vessel
26	chr9:100986200-100998800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr9:100986200-100999000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr9:100987000-100995800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr9:100987000-100997200	Strong transcription	Lung	lung
30	chr9:100987000-100997800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr9:100987200-100996400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr9:100987200-100996800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr9:100987200-100997400	Strong transcription	Primary T cells from cord blood	blood
34	chr9:100987400-100994000	Strong transcription	Osteobl	bone
35	chr9:100987400-100996000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr9:100987600-100994000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:100987800-100994000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr9:100987800-100998200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:100988000-100994000	Strong transcription	Brain Hippocampus Middle	brain
40	chr9:100988200-100994000	Strong transcription	HMEC	breast
41	chr9:100988200-100995800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr9:100988600-100994800	Strong transcription	NHEK	skin
43	chr9:100988600-100995600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr9:100988800-100994600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr9:100988800-100995200	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr9:100989600-100995200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr9:100989600-100995400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr9:100989600-101006400	Weak transcription	Psoas Muscle	Psoas
49	chr9:100989600-101016000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr9:100989800-100997600	Weak transcription	Fetal Muscle Leg	muscle

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