Variant report

Variant	rs17516734
Chromosome Location	chr1:169363203-169363204
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	chr1:169362820..169365561-chr1:169453442..169455657,2	K562	blood:

Variant related genes	Relation type
ENSG00000117479	Chromatin interaction
ENSG00000213062	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11581416	0.85[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17345412	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17518769	0.87[TSI][hapmap]
rs17576071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17577345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272451	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs994986	1.00[CHB][hapmap]

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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv872532	chr1:169275630-169363203	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169338000-169365200	Weak transcription	Gastric	stomach
2	chr1:169338000-169365600	Weak transcription	Pancreas	Pancrea
3	chr1:169338200-169363600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:169338200-169363600	Weak transcription	Stomach Mucosa	stomach
5	chr1:169338200-169369000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:169340400-169366000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:169341200-169367400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:169344800-169365400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:169345000-169366000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:169345400-169366000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:169345600-169366000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:169345800-169365000	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:169345800-169365400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:169345800-169366000	Strong transcription	Placenta	Placenta
15	chr1:169345800-169366400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:169346600-169363400	Weak transcription	Right Ventricle	heart
17	chr1:169346600-169365400	Weak transcription	HepG2	liver
18	chr1:169346800-169363800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:169349400-169363800	Strong transcription	NHEK	skin
20	chr1:169349400-169364600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:169349400-169366000	Strong transcription	Adipose Nuclei	Adipose
22	chr1:169349400-169367400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:169350200-169366800	Weak transcription	HSMMtube	muscle
24	chr1:169350200-169368600	Weak transcription	Colonic Mucosa	Colon
25	chr1:169351800-169364600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:169352400-169363600	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr1:169352600-169365200	Weak transcription	Spleen	Spleen
28	chr1:169352800-169367400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:169353000-169363600	Weak transcription	Brain Angular Gyrus	brain
30	chr1:169353000-169365200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:169353000-169369800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr1:169354000-169364400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:169354000-169370000	Weak transcription	Aorta	Aorta
34	chr1:169354800-169370600	Weak transcription	Fetal Kidney	kidney
35	chr1:169355400-169363400	Weak transcription	Small Intestine	intestine
36	chr1:169356200-169365400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:169357000-169368200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:169358000-169365600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:169358200-169364800	Strong transcription	Fetal Lung	lung
40	chr1:169358200-169368000	Weak transcription	Esophagus	oesophagus
41	chr1:169358400-169363800	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr1:169358600-169364200	Strong transcription	Primary B cells from cord blood	blood
43	chr1:169359000-169365200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:169359200-169365000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:169359200-169366800	Weak transcription	Fetal Brain Male	brain
46	chr1:169359200-169368400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:169359600-169364000	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:169359600-169366000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:169359600-169369800	Weak transcription	NHDF-Ad	bronchial
50	chr1:169360000-169363800	Strong transcription	Fetal Muscle Trunk	muscle

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