Variant report

Variant	rs73960430
Chromosome Location	chr2:98552284-98552285
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98528410..98530497-chr2:98551746..98553885,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238719	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs55804443	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55853292	0.89[AFR][1000 genomes]
rs56319654	1.00[AMR][1000 genomes]
rs56954126	1.00[AMR][1000 genomes]
rs58576615	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59444417	0.83[AFR][1000 genomes]
rs60567628	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61363543	0.87[AFR][1000 genomes]
rs62154555	0.82[AFR][1000 genomes]
rs62154556	0.82[AFR][1000 genomes]
rs62154558	0.82[AFR][1000 genomes]
rs62156482	0.87[AFR][1000 genomes]
rs62156488	0.89[AFR][1000 genomes]
rs62156509	0.87[AFR][1000 genomes]
rs73960406	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73960407	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73960426	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73960434	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7575922	0.82[AFR][1000 genomes]
rs7576509	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr2:98524600-98552600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:98531000-98552400	Weak transcription	Right Atrium	heart
3	chr2:98538800-98552400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:98541200-98552400	Weak transcription	Esophagus	oesophagus
5	chr2:98541600-98552400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:98541600-98552400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:98541600-98552400	Weak transcription	Aorta	Aorta
8	chr2:98541600-98552400	Weak transcription	Lung	lung
9	chr2:98541800-98552400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:98542000-98552400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:98542000-98552400	Weak transcription	Left Ventricle	heart
12	chr2:98542000-98552400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:98542000-98552400	Weak transcription	Thymus	Thymus
14	chr2:98542000-98552800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:98542200-98552400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:98542200-98552400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr2:98542200-98552400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:98542200-98552400	Weak transcription	Placenta	Placenta
19	chr2:98542600-98552400	Weak transcription	Fetal Stomach	stomach
20	chr2:98544400-98554400	Enhancers	Primary B cells from peripheral blood	blood
21	chr2:98545200-98552400	Weak transcription	Brain Germinal Matrix	brain
22	chr2:98545800-98554000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:98546200-98552400	Weak transcription	Psoas Muscle	Psoas
24	chr2:98546400-98552400	Weak transcription	Spleen	Spleen
25	chr2:98546400-98552600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:98546800-98552400	Weak transcription	Ovary	ovary
27	chr2:98547400-98552400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:98547400-98554000	Enhancers	Fetal Lung	lung
29	chr2:98548000-98552400	Weak transcription	Fetal Brain Male	brain
30	chr2:98548200-98553200	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr2:98548400-98552400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:98548400-98552400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:98548400-98552400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:98548400-98552400	Weak transcription	Fetal Intestine Large	intestine
35	chr2:98548600-98552400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:98548600-98552400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:98548600-98552400	Weak transcription	Pancreas	Pancrea
38	chr2:98548600-98552400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:98549800-98553800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:98549800-98554000	Enhancers	NHDF-Ad	bronchial
41	chr2:98550000-98553600	Enhancers	Liver	Liver
42	chr2:98550000-98554000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:98550200-98554200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr2:98550400-98552400	Enhancers	Brain Substantia Nigra	brain
45	chr2:98550400-98553000	Enhancers	Rectal Smooth Muscle	rectum
46	chr2:98550400-98553200	Enhancers	Small Intestine	intestine
47	chr2:98550400-98553800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:98550400-98554200	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr2:98550600-98553000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr2:98550600-98553000	Enhancers	Colon Smooth Muscle	Colon

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