Variant report

Variant	rs17027799
Chromosome Location	chr4:99505579-99505580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99494775..99495594-chr4:99505088..99505683,2	MCF-7	breast:
2	chr4:99496585..99499120-chr4:99503712..99505800,2	MCF-7	breast:
3	chr4:99499694..99502354-chr4:99504624..99508480,3	K562	blood:
4	chr4:99500568..99502223-chr4:99504228..99505932,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10026446	1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10489125	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11944636	0.85[CEU][hapmap]
rs1406311	0.85[CEU][hapmap]
rs1528548	0.84[AMR][1000 genomes]
rs1547382	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.88[ASN][1000 genomes]
rs17027776	0.85[CEU][hapmap]
rs17027779	0.85[CEU][hapmap]
rs17027802	0.90[CHB][hapmap]
rs17027806	0.81[AMR][1000 genomes]
rs4699654	0.85[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs62323626	0.88[ASN][1000 genomes]
rs62323627	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62323629	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62323632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62323633	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6833529	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7666573	0.85[CEU][hapmap]
rs7666585	0.82[CEU][hapmap];0.85[JPT][hapmap]
rs7667273	0.82[CEU][hapmap];0.80[CHB][hapmap];0.85[JPT][hapmap]
rs950152	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2760882	chr4:99460485-99521345	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99479000-99506400	Weak transcription	Aorta	Aorta
2	chr4:99490800-99506600	Weak transcription	Esophagus	oesophagus
3	chr4:99490800-99509000	Weak transcription	HSMM	muscle
4	chr4:99497200-99510200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:99498600-99508000	Enhancers	Brain Anterior Caudate	brain
6	chr4:99498800-99507800	Enhancers	Brain Hippocampus Middle	brain
7	chr4:99500000-99508000	Weak transcription	Spleen	Spleen
8	chr4:99500400-99508000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:99500800-99508000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:99501800-99507000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr4:99502000-99507000	Weak transcription	Fetal Heart	heart
12	chr4:99502000-99507000	Weak transcription	Fetal Lung	lung
13	chr4:99502200-99508200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:99502400-99507000	Weak transcription	NHDF-Ad	bronchial
15	chr4:99502600-99507200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:99502600-99507400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:99502600-99508000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:99502600-99508000	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:99502800-99507800	Weak transcription	NH-A	brain
20	chr4:99503000-99507200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:99503400-99506800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:99503400-99508000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr4:99503600-99508000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:99503600-99508000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:99503600-99508000	Weak transcription	Gastric	stomach
26	chr4:99504000-99507400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:99504200-99507800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr4:99504200-99509200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:99504400-99506400	Enhancers	Stomach Mucosa	stomach
30	chr4:99504600-99507800	Enhancers	Fetal Brain Female	brain
31	chr4:99504800-99506000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr4:99504800-99506000	Enhancers	Brain Substantia Nigra	brain
33	chr4:99504800-99506200	Enhancers	Brain Cingulate Gyrus	brain
34	chr4:99504800-99506200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr4:99504800-99506200	Enhancers	HepG2	liver
36	chr4:99504800-99506400	Enhancers	A549	lung
37	chr4:99504800-99506800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:99504800-99507000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:99504800-99507000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:99504800-99507800	Enhancers	Brain Angular Gyrus	brain
41	chr4:99505000-99507000	Weak transcription	NHEK	skin
42	chr4:99505000-99510400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:99505200-99505600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:99505200-99506200	Enhancers	Liver	Liver
45	chr4:99505200-99506400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:99505200-99506600	Weak transcription	Ovary	ovary
47	chr4:99505200-99506800	Weak transcription	Brain Germinal Matrix	brain
48	chr4:99505200-99507000	Weak transcription	HMEC	breast
49	chr4:99505200-99508000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:99505200-99510200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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