Variant report

Variant	rs10196559
Chromosome Location	chr2:98704340-98704341
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98610350..98614892-chr2:98700211..98704879,10	MCF-7	breast:
2	chr2:98612119..98614854-chr2:98702248..98705786,3	K562	blood:

Variant related genes	Relation type
ENSG00000075568	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10211067	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427118	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298915	0.84[AFR][1000 genomes]
rs298916	0.84[AFR][1000 genomes]
rs56899755	0.88[EUR][1000 genomes]
rs6705096	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711299	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729411	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6753823	0.88[EUR][1000 genomes]
rs7355475	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7590131	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv834309	chr2:98643304-98793838	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv527817	chr2:98701043-98791433	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98702800-98704400	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr2:98702800-98704400	Flanking Active TSS	Liver	Liver
3	chr2:98702800-98704400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr2:98702800-98705200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr2:98703000-98704400	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr2:98703000-98704600	Active TSS	Rectal Smooth Muscle	rectum
7	chr2:98703000-98704600	Flanking Active TSS	GM12878-XiMat	blood
8	chr2:98703000-98704800	Enhancers	Spleen	Spleen
9	chr2:98703200-98706000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr2:98703400-98704400	Active TSS	Brain Anterior Caudate	brain
11	chr2:98703400-98704400	Active TSS	Colon Smooth Muscle	Colon
12	chr2:98703400-98704400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr2:98703400-98704400	Bivalent/Poised TSS	NHLF	lung
14	chr2:98703400-98704600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:98703600-98704400	Enhancers	Fetal Brain Male	brain
16	chr2:98703800-98704600	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr2:98703800-98704800	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr2:98703800-98704800	Flanking Active TSS	Stomach Mucosa	stomach
19	chr2:98703800-98705000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr2:98704000-98704400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:98704000-98704400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:98704000-98704400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:98704000-98704400	Active TSS	Brain Hippocampus Middle	brain
24	chr2:98704000-98704400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr2:98704000-98704600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
26	chr2:98704000-98704600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:98704000-98704600	Bivalent Enhancer	Fetal Intestine Small	intestine
28	chr2:98704000-98704800	Enhancers	Primary hematopoietic stem cells	blood
29	chr2:98704000-98705000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr2:98704000-98705200	Enhancers	Primary B cells from peripheral blood	blood
31	chr2:98704200-98704400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:98704200-98704400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:98704200-98704400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:98704200-98704400	Bivalent/Poised TSS	Fetal Lung	lung
35	chr2:98704200-98704400	Bivalent/Poised TSS	NHDF-Ad	bronchial
36	chr2:98704200-98704400	Flanking Active TSS	NHEK	skin
37	chr2:98704200-98704600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:98704200-98704600	Enhancers	Brain Cingulate Gyrus	brain
39	chr2:98704200-98704600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:98704200-98704600	Active TSS	Colonic Mucosa	Colon
41	chr2:98704200-98704600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr2:98704200-98704800	Bivalent Enhancer	Fetal Thymus	thymus
43	chr2:98704200-98705200	Weak transcription	Lung	lung
44	chr2:98704200-98705400	Enhancers	Placenta	Placenta
45	chr2:98704200-98707200	Weak transcription	Gastric	stomach
46	chr2:98704200-98709800	Enhancers	Primary monocytes fromperipheralblood	blood

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