Variant report

Variant	rs13427376
Chromosome Location	chr2:100902224-100902225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100885913..100887573-chr2:100900551..100902745,2	MCF-7	breast:
2	chr2:100901888..100904596-chr2:100917454..100919195,2	MCF-7	breast:
3	chr2:100893699..100897169-chr2:100899587..100903259,4	MCF-7	breast:
4	chr2:100900624..100902908-chr2:100926572..100928949,2	K562	blood:
5	chr2:100901321..100904489-chr2:100937079..100940896,4	K562	blood:
6	chr2:100898902..100903882-chr2:100937164..100940384,5	K562	blood:
7	chr2:100900693..100917248-chr2:100932005..100942326,51	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170500	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10169580	1.00[EUR][1000 genomes]
rs10178929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10183462	1.00[EUR][1000 genomes]
rs10186689	1.00[EUR][1000 genomes]
rs10187094	1.00[EUR][1000 genomes]
rs10188619	1.00[EUR][1000 genomes]
rs10190243	1.00[EUR][1000 genomes]
rs10191099	1.00[EUR][1000 genomes]
rs10191655	1.00[EUR][1000 genomes]
rs10193186	1.00[EUR][1000 genomes]
rs10194087	1.00[EUR][1000 genomes]
rs10194280	1.00[EUR][1000 genomes]
rs10197013	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10205784	1.00[EUR][1000 genomes]
rs10207091	1.00[EUR][1000 genomes]
rs10207566	1.00[EUR][1000 genomes]
rs1107428	1.00[EUR][1000 genomes]
rs11123831	1.00[EUR][1000 genomes]
rs12329351	1.00[EUR][1000 genomes]
rs13391540	1.00[EUR][1000 genomes]
rs13407391	1.00[EUR][1000 genomes]
rs13413021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13416287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13417574	1.00[EUR][1000 genomes]
rs13425645	1.00[EUR][1000 genomes]
rs28485289	1.00[EUR][1000 genomes]
rs28549897	1.00[EUR][1000 genomes]
rs28631885	1.00[EUR][1000 genomes]
rs28757637	1.00[EUR][1000 genomes]
rs4597550	1.00[EUR][1000 genomes]
rs56377332	1.00[EUR][1000 genomes]
rs57231149	1.00[EUR][1000 genomes]
rs60292856	1.00[EUR][1000 genomes]
rs6542927	1.00[EUR][1000 genomes]
rs6542928	1.00[EUR][1000 genomes]
rs6542935	1.00[EUR][1000 genomes]
rs6723222	1.00[EUR][1000 genomes]
rs6733677	1.00[EUR][1000 genomes]
rs6734881	1.00[EUR][1000 genomes]
rs6742048	1.00[EUR][1000 genomes]
rs6743560	1.00[EUR][1000 genomes]
rs6755284	1.00[EUR][1000 genomes]
rs6759686	1.00[EUR][1000 genomes]
rs72954123	1.00[EUR][1000 genomes]
rs72966498	1.00[EUR][1000 genomes]
rs72968866	1.00[EUR][1000 genomes]
rs73964443	1.00[EUR][1000 genomes]
rs73968406	1.00[EUR][1000 genomes]
rs7563954	1.00[EUR][1000 genomes]
rs7564318	1.00[EUR][1000 genomes]
rs7569334	1.00[EUR][1000 genomes]
rs7580252	1.00[AMR][1000 genomes]
rs7585806	1.00[EUR][1000 genomes]
rs9808480	1.00[EUR][1000 genomes]
rs995110	1.00[EUR][1000 genomes]
rs995132	1.00[EUR][1000 genomes]
rs995133	1.00[EUR][1000 genomes]

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:70 , 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	chr2:100898600-100902600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:100898800-100903000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:100898800-100915000	Weak transcription	Adipose Nuclei	Adipose
13	chr2:100899000-100907400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:100899400-100902400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:100899400-100903200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:100899600-100902600	Weak transcription	Small Intestine	intestine
17	chr2:100900000-100903600	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:100900000-100904200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:100900000-100905600	Strong transcription	Aorta	Aorta
20	chr2:100900200-100902600	Strong transcription	Colon Smooth Muscle	Colon
21	chr2:100900200-100903200	Enhancers	NH-A	brain
22	chr2:100900200-100903600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:100900200-100903600	Strong transcription	Left Ventricle	heart
24	chr2:100900200-100905200	Strong transcription	Brain Germinal Matrix	brain
25	chr2:100900200-100919000	Strong transcription	Fetal Brain Female	brain
26	chr2:100900600-100904200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:100900800-100902800	Weak transcription	Brain Substantia Nigra	brain
28	chr2:100900800-100906800	Weak transcription	Fetal Thymus	thymus
29	chr2:100900800-100907000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:100900800-100907800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:100900800-100926600	Weak transcription	Right Ventricle	heart
32	chr2:100901000-100902400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:100901000-100902800	Weak transcription	Brain Anterior Caudate	brain
34	chr2:100901000-100904800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:100901000-100937000	Weak transcription	Fetal Brain Male	brain
36	chr2:100901200-100903200	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:100901600-100903000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:100901600-100903000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:100901600-100903200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr2:100901600-100903400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:100901600-100903600	Enhancers	Hela-S3	cervix
42	chr2:100901600-100904200	Enhancers	Pancreas	Pancrea
43	chr2:100901600-100904200	Genic enhancers	K562	blood
44	chr2:100901600-100907200	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr2:100901800-100902400	Genic enhancers	A549	lung
46	chr2:100901800-100903200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr2:100901800-100903400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr2:100901800-100903400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr2:100901800-100903600	Enhancers	Fetal Kidney	kidney
50	chr2:100901800-100903600	Enhancers	Stomach Mucosa	stomach

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