Variant report

Variant	rs17190203
Chromosome Location	chr13:98011866-98011867
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:98011835..98013519-chr13:98027401..98029954,2	K562	blood:
2	chr13:97874376..97874930-chr13:98011461..98012391,2	K562	blood:
3	chr13:97683065..97683655-chr13:98011459..98012220,3	MCF-7	breast:
4	chr13:97761876..97762424-chr13:98011415..98011920,2	K562	blood:

Variant related genes	Relation type
ENSG00000139793	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs16952071	1.00[CEU][hapmap];0.91[GIH][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs17190210	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17268915	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17268922	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1974085	0.82[TSI][hapmap]
rs2220971	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3825422	1.00[CEU][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4578507	0.83[CEU][hapmap];0.84[TSI][hapmap]
rs4771992	0.82[TSI][hapmap]
rs55684003	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59036109	0.84[EUR][1000 genomes]
rs59512800	0.93[EUR][1000 genomes]
rs59788734	0.93[EUR][1000 genomes]
rs60452878	0.93[EUR][1000 genomes]
rs60805672	0.93[EUR][1000 genomes]
rs72637476	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7318821	1.00[CEU][hapmap];0.85[GIH][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs7327210	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7333641	0.95[CEU][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs7358848	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs8000986	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9300404	0.93[EUR][1000 genomes]
rs9556704	0.81[EUR][1000 genomes]
rs9582124	0.91[CEU][hapmap];0.86[TSI][hapmap]
rs9584547	0.95[CEU][hapmap];0.91[GIH][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9584549	0.83[CEU][hapmap];0.84[TSI][hapmap]
rs9584554	0.93[EUR][1000 genomes]
rs9584555	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9584556	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9584559	1.00[CEU][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9584560	1.00[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9584564	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][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	nsv832694	chr13:97930561-98137882	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1038798	chr13:98008467-98068130	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97982600-98020800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr13:97991600-98020800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr13:97992800-98020800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr13:97994200-98016200	Weak transcription	NHDF-Ad	bronchial
5	chr13:97995400-98050200	Weak transcription	Small Intestine	intestine
6	chr13:97996200-98019400	Weak transcription	GM12878-XiMat	blood
7	chr13:97997400-98019000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr13:97998400-98015800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:97999600-98019200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr13:98002400-98027200	Weak transcription	Lung	lung
11	chr13:98002400-98039600	Weak transcription	Spleen	Spleen
12	chr13:98002600-98013600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr13:98002600-98021600	Weak transcription	Colonic Mucosa	Colon
14	chr13:98003200-98021200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr13:98003800-98012800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr13:98003800-98013000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr13:98003800-98018000	Weak transcription	Fetal Brain Male	brain
18	chr13:98003800-98019000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr13:98004000-98013000	Weak transcription	Ovary	ovary
20	chr13:98004000-98013200	Weak transcription	Fetal Kidney	kidney
21	chr13:98004000-98018600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr13:98004000-98019200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:98004000-98021000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr13:98004200-98012800	Weak transcription	Fetal Stomach	stomach
25	chr13:98004200-98014200	Weak transcription	Fetal Intestine Small	intestine
26	chr13:98004400-98019400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr13:98005400-98012800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:98005400-98021600	Weak transcription	Thymus	Thymus
29	chr13:98006200-98012800	Enhancers	Brain Anterior Caudate	brain
30	chr13:98006600-98013000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr13:98006600-98020600	Strong transcription	HUVEC	blood vessel
32	chr13:98006800-98014800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr13:98006800-98018600	Weak transcription	HSMMtube	muscle
34	chr13:98007400-98012800	Weak transcription	HSMM	muscle
35	chr13:98007600-98012200	Enhancers	Brain Hippocampus Middle	brain
36	chr13:98008200-98012200	Enhancers	Brain Angular Gyrus	brain
37	chr13:98008600-98014800	Weak transcription	Fetal Heart	heart
38	chr13:98008600-98015200	Strong transcription	NH-A	brain
39	chr13:98008800-98012200	Enhancers	Brain Substantia Nigra	brain
40	chr13:98009000-98015200	Strong transcription	Osteobl	bone
41	chr13:98009200-98012800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr13:98009200-98012800	Weak transcription	NHEK	skin
43	chr13:98009200-98015000	Weak transcription	Psoas Muscle	Psoas
44	chr13:98009200-98019200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:98009600-98019000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr13:98009800-98014800	Weak transcription	Aorta	Aorta
47	chr13:98010000-98012000	Enhancers	Brain Cingulate Gyrus	brain
48	chr13:98010000-98012800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr13:98010000-98012800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr13:98010000-98012800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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