Variant report

Variant	rs17084700
Chromosome Location	chr4:55595351-55595352
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	RELA	chr4:55593093-55595399	GM19099	blood:	n/a	chr4:55593723-55593732 chr4:55593723-55593732
2	POLR2A	chr4:55595202-55595368	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
KIT	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10009832	1.00[EUR][1000 genomes]
rs17084689	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17084692	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17084709	0.91[ASW][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17084730	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17084732	1.00[EUR][1000 genomes]
rs1978281	1.00[EUR][1000 genomes]
rs218272	1.00[EUR][1000 genomes]
rs2412605	0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2537868	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2537869	1.00[EUR][1000 genomes]
rs2537870	1.00[EUR][1000 genomes]
rs2537871	1.00[EUR][1000 genomes]
rs2537877	1.00[EUR][1000 genomes]
rs2703466	1.00[EUR][1000 genomes]
rs2703470	1.00[EUR][1000 genomes]
rs2703471	1.00[EUR][1000 genomes]
rs2703482	1.00[EUR][1000 genomes]
rs2703483	1.00[EUR][1000 genomes]
rs2703490	1.00[EUR][1000 genomes]
rs2855769	1.00[EUR][1000 genomes]
rs2855775	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2855776	1.00[EUR][1000 genomes]
rs2855779	1.00[EUR][1000 genomes]
rs2969156	1.00[EUR][1000 genomes]
rs2969157	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2969160	1.00[EUR][1000 genomes]
rs2969161	1.00[EUR][1000 genomes]
rs3020819	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3020824	1.00[EUR][1000 genomes]
rs3020828	1.00[EUR][1000 genomes]
rs3111792	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3111799	1.00[EUR][1000 genomes]
rs3111808	1.00[EUR][1000 genomes]
rs3111809	1.00[EUR][1000 genomes]
rs3134886	1.00[EUR][1000 genomes]
rs3134888	1.00[EUR][1000 genomes]
rs56288823	1.00[EUR][1000 genomes]
rs61002343	1.00[EUR][1000 genomes]
rs73141818	1.00[EUR][1000 genomes]
rs73150417	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv966517	chr4:55593589-55598141	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55561000-55606600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:55562800-55597400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:55576400-55602000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:55576400-55602600	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:55584400-55606200	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:55584800-55596000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:55585200-55608400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:55586600-55604600	Weak transcription	Lung	lung
9	chr4:55587800-55607600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:55588200-55608000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:55588600-55611600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:55589600-55608400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:55589800-55607400	Weak transcription	Left Ventricle	heart
14	chr4:55590000-55603400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:55590000-55608000	Strong transcription	Primary hematopoietic stem cells	blood
16	chr4:55590600-55596000	Weak transcription	Fetal Brain Male	brain
17	chr4:55590600-55602200	Weak transcription	Fetal Brain Female	brain
18	chr4:55591200-55597600	Weak transcription	Fetal Kidney	kidney
19	chr4:55591800-55599200	Weak transcription	Adipose Nuclei	Adipose
20	chr4:55592600-55609000	Weak transcription	Fetal Stomach	stomach
21	chr4:55593200-55595600	Enhancers	Primary B cells from peripheral blood	blood
22	chr4:55593400-55596200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr4:55593400-55598200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:55593400-55607200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:55593600-55602600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:55593600-55606800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:55593800-55598200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:55593800-55600400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:55594000-55596000	Weak transcription	NHDF-Ad	bronchial
30	chr4:55594000-55597200	Weak transcription	NHLF	lung
31	chr4:55594200-55597000	Weak transcription	Ovary	ovary
32	chr4:55594200-55602200	Weak transcription	Aorta	Aorta
33	chr4:55594400-55595400	Enhancers	GM12878-XiMat	blood
34	chr4:55594400-55595400	Weak transcription	HUVEC	blood vessel
35	chr4:55594400-55596400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:55594400-55597400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:55594400-55602600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:55594400-55607000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:55594600-55599800	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr4:55594800-55595600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:55595000-55595800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:55595000-55596200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:55595000-55597400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:55595200-55597400	Weak transcription	Fetal Lung	lung

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