Variant report

Variant	rs705501
Chromosome Location	chr19:38484355-38484356
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38478199..38481086-chr19:38483839..38485843,2	K562	blood:
2	chr19:38470130..38474074-chr19:38479565..38484723,5	MCF-7	breast:
3	chr19:38483729..38485746-chr19:38492627..38494202,2	MCF-7	breast:
4	chr19:38393241..38399415-chr19:38476540..38485383,15	MCF-7	breast:
5	chr19:38423743..38426556-chr19:38482738..38484356,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171804	Chromatin interaction
ENSG00000105738	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10853715	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1622543	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1643455	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1643456	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643457	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643459	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs17248670	1.00[CHB][hapmap]
rs17249336	1.00[CHB][hapmap]
rs1725501	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1725503	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2694065	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3859549	1.00[CHB][hapmap]
rs4536583	1.00[CHB][hapmap]
rs57733318	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6508755	1.00[CHB][hapmap]
rs705502	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7343065	1.00[CHB][hapmap]
rs8100199	1.00[CHB][hapmap]
rs833893	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs833894	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs833901	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs833902	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs833903	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs833904	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs833905	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs833906	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs833907	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs833908	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs833919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs833920	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs833921	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38461600-38493600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr19:38461600-38493600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr19:38463800-38484800	Weak transcription	Fetal Stomach	stomach
4	chr19:38470800-38494000	Weak transcription	Right Ventricle	heart
5	chr19:38471200-38493800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:38471400-38488600	Weak transcription	NHLF	lung
7	chr19:38472400-38493800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:38472800-38489600	Weak transcription	Fetal Kidney	kidney
9	chr19:38473200-38488600	Weak transcription	HSMMtube	muscle
10	chr19:38474800-38513600	Weak transcription	Gastric	stomach
11	chr19:38475000-38488600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:38475800-38488600	Weak transcription	Hela-S3	cervix
13	chr19:38476400-38484800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:38477200-38488800	Weak transcription	Brain Anterior Caudate	brain
15	chr19:38477400-38491800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr19:38477600-38493800	Weak transcription	Thymus	Thymus
17	chr19:38479200-38493800	Weak transcription	Colonic Mucosa	Colon
18	chr19:38479600-38485400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr19:38479800-38484800	Weak transcription	Primary T cells from cord blood	blood
20	chr19:38479800-38488600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:38479800-38489800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr19:38480000-38485400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:38480000-38488600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr19:38480000-38493600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:38480000-38493600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr19:38480000-38493800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr19:38480200-38489800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:38481000-38493800	Weak transcription	Small Intestine	intestine
29	chr19:38481200-38485000	Weak transcription	Liver	Liver
30	chr19:38481400-38485000	Weak transcription	Spleen	Spleen
31	chr19:38482000-38485000	Enhancers	Pancreas	Pancrea
32	chr19:38482200-38493800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr19:38482400-38484600	Weak transcription	Fetal Intestine Large	intestine
34	chr19:38482400-38485000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr19:38482400-38485200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr19:38482400-38488400	Weak transcription	Fetal Muscle Leg	muscle
37	chr19:38482400-38489200	Weak transcription	Adipose Nuclei	Adipose
38	chr19:38482400-38489600	Weak transcription	Psoas Muscle	Psoas
39	chr19:38482400-38490600	Strong transcription	Fetal Intestine Small	intestine
40	chr19:38482400-38493600	Weak transcription	Brain Hippocampus Middle	brain
41	chr19:38482400-38493800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr19:38482400-38493800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr19:38482600-38484800	Weak transcription	GM12878-XiMat	blood
44	chr19:38482600-38488600	Weak transcription	Brain Angular Gyrus	brain
45	chr19:38482600-38493800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr19:38482600-38494000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr19:38482600-38494000	Weak transcription	Esophagus	oesophagus
48	chr19:38482800-38484600	Weak transcription	HepG2	liver
49	chr19:38482800-38485200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr19:38482800-38485200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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