Variant report

Variant	rs4719901
Chromosome Location	chr7:27583153-27583154
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27582585..27584143-chr7:27588218..27591051,2	K562	blood:
2	chr7:27581086..27583584-chr7:27586153..27588098,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1000317	1.00[CEU][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1009253	0.81[GIH][hapmap]
rs10951174	0.94[CEU][hapmap]
rs11520772	0.82[CEU][hapmap]
rs12532737	0.86[AMR][1000 genomes]
rs12534474	0.93[TSI][hapmap]
rs12534656	0.97[EUR][1000 genomes]
rs12539472	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs13224916	0.96[EUR][1000 genomes]
rs13227521	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13227574	0.83[ASW][hapmap];0.89[CEU][hapmap];0.85[GIH][hapmap];0.83[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes]
rs13231645	0.83[ASW][hapmap];1.00[CEU][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13232561	1.00[CEU][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs13236908	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13237776	0.96[TSI][hapmap]
rs13241127	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34578407	0.95[EUR][1000 genomes]
rs34638402	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35105727	0.86[AMR][1000 genomes]
rs35733141	0.82[EUR][1000 genomes]
rs35771883	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35816118	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35925990	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36069602	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4719896	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4722725	0.88[CEU][hapmap];0.83[AMR][1000 genomes]
rs6944455	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6968631	0.86[AMR][1000 genomes]
rs6969043	0.86[AMR][1000 genomes]
rs6969207	0.82[CEU][hapmap];0.86[AMR][1000 genomes]
rs71539523	0.98[EUR][1000 genomes]
rs71539525	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71539526	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71539527	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71539529	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71555704	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830930	chr7:27395838-27587355	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27556400-27584400	Weak transcription	NHEK	skin
2	chr7:27556400-27586400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:27559400-27584200	Weak transcription	Pancreas	Pancrea
4	chr7:27559400-27627800	Weak transcription	Psoas Muscle	Psoas
5	chr7:27559800-27593000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:27564200-27585400	Weak transcription	Small Intestine	intestine
7	chr7:27565600-27592200	Weak transcription	Brain Substantia Nigra	brain
8	chr7:27566000-27583800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr7:27566800-27593200	Weak transcription	Lung	lung
10	chr7:27569600-27602200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:27570000-27586400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:27573400-27590000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:27579000-27596000	Weak transcription	Right Ventricle	heart
14	chr7:27580200-27583200	Strong transcription	Fetal Intestine Large	intestine
15	chr7:27580600-27615000	Weak transcription	Aorta	Aorta
16	chr7:27581000-27583200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:27581200-27588400	Weak transcription	HepG2	liver
18	chr7:27581200-27591400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:27581200-27591600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:27581400-27583200	Weak transcription	Thymus	Thymus
21	chr7:27581400-27583400	Weak transcription	Fetal Brain Male	brain
22	chr7:27581400-27583800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:27581400-27583800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:27581400-27584000	Weak transcription	Spleen	Spleen
25	chr7:27581400-27584400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:27581400-27584600	Weak transcription	Brain Angular Gyrus	brain
27	chr7:27581400-27585000	Weak transcription	Colon Smooth Muscle	Colon
28	chr7:27581400-27586000	Weak transcription	HSMMtube	muscle
29	chr7:27581400-27586800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:27581400-27587200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:27581400-27588000	Weak transcription	A549	lung
32	chr7:27581400-27591400	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:27581400-27591600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:27581400-27591800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:27581400-27594400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr7:27581400-27600200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr7:27581400-27617400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:27581600-27583200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:27581600-27583200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr7:27581600-27583200	Weak transcription	NHLF	lung
41	chr7:27581600-27583400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:27581600-27584000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:27581600-27584000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr7:27581600-27584200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr7:27581600-27584200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr7:27581600-27584200	Weak transcription	Dnd41	blood
47	chr7:27581600-27584800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:27581600-27586000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:27581600-27586200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:27581600-27586400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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