Variant report

Variant	rs17036191
Chromosome Location	chr2:47287957-47287958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47287750..47290295-chr2:47291902..47294626,3	K562	blood:
2	chr2:47277208..47279306-chr2:47287404..47289721,2	MCF-7	breast:
3	chr2:47285787..47290884-chr2:47401621..47403774,5	K562	blood:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10174635	0.83[AMR][1000 genomes]
rs10191558	1.00[AMR][1000 genomes]
rs28708409	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs60472761	0.84[AFR][1000 genomes]
rs6708855	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6733891	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6749079	0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs919878	0.90[ASW][hapmap];0.87[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs919879	0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv525197	chr2:47210747-47297973	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv984437	chr2:47270533-47307361	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv873998	chr2:47273732-47313624	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47230200-47302800	Strong transcription	Dnd41	blood
2	chr2:47259600-47295000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:47270800-47296600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:47272200-47292000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:47274800-47292800	Weak transcription	Hela-S3	cervix
6	chr2:47278600-47290800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:47279800-47289000	Weak transcription	NHEK	skin
8	chr2:47282000-47293400	Enhancers	Brain Substantia Nigra	brain
9	chr2:47282200-47288000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:47282400-47288000	Enhancers	Brain Angular Gyrus	brain
11	chr2:47282400-47289800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:47282600-47288000	Enhancers	Brain Hippocampus Middle	brain
13	chr2:47284400-47296400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:47284400-47296400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:47284600-47290600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:47284600-47296000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:47284600-47298400	Strong transcription	Thymus	Thymus
18	chr2:47284800-47292600	Weak transcription	Small Intestine	intestine
19	chr2:47285000-47292800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:47285000-47295000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:47285000-47295200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:47285000-47295400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:47285200-47288400	Weak transcription	Liver	Liver
24	chr2:47285200-47291000	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:47285200-47295800	Strong transcription	Primary T cells from cord blood	blood
26	chr2:47285400-47292400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:47285400-47292600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:47285600-47288200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:47285600-47288400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:47285600-47288600	Weak transcription	K562	blood
31	chr2:47285600-47291600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:47285600-47292400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:47285800-47288000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:47285800-47288000	Weak transcription	Stomach Mucosa	stomach
35	chr2:47285800-47288400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:47285800-47288400	Weak transcription	Fetal Heart	heart
37	chr2:47285800-47288800	Weak transcription	Brain Germinal Matrix	brain
38	chr2:47285800-47289000	Genic enhancers	Fetal Muscle Leg	muscle
39	chr2:47285800-47289200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:47285800-47289600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:47285800-47291800	Weak transcription	Fetal Kidney	kidney
42	chr2:47285800-47292600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:47286000-47288000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:47286000-47288200	Weak transcription	Fetal Brain Female	brain
45	chr2:47286000-47288400	Strong transcription	Fetal Intestine Small	intestine
46	chr2:47286000-47289000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:47286000-47289000	Weak transcription	Ovary	ovary
48	chr2:47286000-47289600	Weak transcription	NH-A	brain
49	chr2:47286000-47292400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:47286000-47292800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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