Variant report

Variant	rs7580252
Chromosome Location	chr2:100903357-100903358
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100901888..100904596-chr2:100917454..100919195,2	MCF-7	breast:
2	chr2:100885071..100887270-chr2:100902977..100904501,2	MCF-7	breast:
3	chr2:100901321..100904489-chr2:100937079..100940896,4	K562	blood:
4	chr2:100903308..100904921-chr2:101179332..101181614,2	K562	blood:
5	chr2:100898902..100903882-chr2:100937164..100940384,5	K562	blood:
6	chr2:100900693..100917248-chr2:100932005..100942326,51	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115539	Chromatin interaction
ENSG00000170500	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10178929	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs10197013	1.00[AMR][1000 genomes]
rs1057056	1.00[CEU][hapmap]
rs13407391	1.00[MEX][hapmap]
rs13413021	1.00[AMR][1000 genomes]
rs13416287	1.00[AMR][1000 genomes]
rs13427376	1.00[AMR][1000 genomes]
rs17024203	1.00[CEU][hapmap]
rs3748936	1.00[CEU][hapmap]
rs4851276	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6725672	1.00[CEU][hapmap]
rs6732839	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100891800-100907600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:100892000-100904000	Weak transcription	Gastric	stomach
3	chr2:100892200-100909800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:100896600-100907000	Weak transcription	Spleen	Spleen
5	chr2:100896600-100907600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:100897600-100903600	Enhancers	Dnd41	blood
7	chr2:100898400-100906800	Weak transcription	Placenta	Placenta
8	chr2:100898400-100908200	Weak transcription	Fetal Lung	lung
9	chr2:100898400-100915600	Weak transcription	Right Atrium	heart
10	chr2:100898800-100915000	Weak transcription	Adipose Nuclei	Adipose
11	chr2:100899000-100907400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:100900000-100903600	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:100900000-100904200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:100900000-100905600	Strong transcription	Aorta	Aorta
15	chr2:100900200-100903600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:100900200-100903600	Strong transcription	Left Ventricle	heart
17	chr2:100900200-100905200	Strong transcription	Brain Germinal Matrix	brain
18	chr2:100900200-100919000	Strong transcription	Fetal Brain Female	brain
19	chr2:100900600-100904200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:100900800-100906800	Weak transcription	Fetal Thymus	thymus
21	chr2:100900800-100907000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:100900800-100907800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:100900800-100926600	Weak transcription	Right Ventricle	heart
24	chr2:100901000-100904800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:100901000-100937000	Weak transcription	Fetal Brain Male	brain
26	chr2:100901600-100903400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:100901600-100903600	Enhancers	Hela-S3	cervix
28	chr2:100901600-100904200	Enhancers	Pancreas	Pancrea
29	chr2:100901600-100904200	Genic enhancers	K562	blood
30	chr2:100901600-100907200	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr2:100901800-100903400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:100901800-100903400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:100901800-100903600	Enhancers	Fetal Kidney	kidney
34	chr2:100901800-100903600	Enhancers	Stomach Mucosa	stomach
35	chr2:100902000-100903400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:100902000-100903600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr2:100902000-100903600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:100902000-100903600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:100902000-100903600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
40	chr2:100902000-100903600	Genic enhancers	Brain Angular Gyrus	brain
41	chr2:100902200-100903800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr2:100902200-100907000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:100902400-100903400	Enhancers	Fetal Intestine Small	intestine
44	chr2:100902400-100905000	Weak transcription	Ovary	ovary
45	chr2:100902400-100906400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:100902400-100907000	Weak transcription	Lung	lung
47	chr2:100902400-100907400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:100902400-100908000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr2:100902600-100907400	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:100902600-100907600	Weak transcription	Fetal Stomach	stomach

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