Variant report

Variant	rs1356621
Chromosome Location	chr2:85973114-85973115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85971555..85973633-chr2:85979812..85981943,2	K562	blood:
2	chr2:85970891..85973881-chr2:85976191..85979014,2	K562	blood:
3	chr2:85972115..85974946-chr2:85980100..85981660,2	MCF-7	breast:
4	chr2:85971643..85974209-chr2:85976098..85978084,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168874	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1111527	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11126998	1.00[CEU][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap]
rs13430978	0.85[ASN][1000 genomes]
rs1356622	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1356623	1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1356624	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1465822	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1465823	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1473275	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1568310	0.93[CEU][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2118401	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2366816	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4832006	0.83[ASN][1000 genomes]
rs4832007	0.93[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs4832008	0.93[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs4832190	0.93[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs4832191	0.86[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs6727520	0.83[ASN][1000 genomes]
rs6735639	0.83[ASN][1000 genomes]
rs6735655	0.83[ASN][1000 genomes]
rs732155	1.00[CEU][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7557287	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7567852	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr2:85965000-85973400	Enhancers	Fetal Muscle Leg	muscle
2	chr2:85968000-85974600	Enhancers	Left Ventricle	heart
3	chr2:85968200-85973200	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr2:85968200-85973800	Enhancers	Right Ventricle	heart
5	chr2:85968200-85974200	Enhancers	Right Atrium	heart
6	chr2:85968400-85973400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:85969600-85973600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:85969600-85974200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:85969800-85973800	Enhancers	Brain Angular Gyrus	brain
10	chr2:85969800-85973800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr2:85970200-85973400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:85970400-85973400	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:85970400-85973400	Weak transcription	Thymus	Thymus
14	chr2:85970400-85974000	Enhancers	Fetal Lung	lung
15	chr2:85970400-85974000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr2:85971200-85974200	Enhancers	A549	lung
17	chr2:85971400-85973200	Enhancers	Fetal Heart	heart
18	chr2:85971400-85973400	Weak transcription	Esophagus	oesophagus
19	chr2:85971600-85973400	Weak transcription	Spleen	Spleen
20	chr2:85971600-85975400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:85971600-85977800	Weak transcription	Pancreas	Pancrea
22	chr2:85972200-85973200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr2:85972200-85973400	Weak transcription	Lung	lung
24	chr2:85972200-85976200	Weak transcription	Gastric	stomach
25	chr2:85972400-85973600	Enhancers	Placenta	Placenta
26	chr2:85972400-85975800	Weak transcription	Hela-S3	cervix
27	chr2:85972400-85976200	Weak transcription	Stomach Mucosa	stomach
28	chr2:85972400-85976800	Enhancers	Primary B cells from cord blood	blood
29	chr2:85972400-85978200	Enhancers	Primary B cells from peripheral blood	blood
30	chr2:85972600-85973200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:85972600-85973800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr2:85972600-85973800	Bivalent Enhancer	Fetal Stomach	stomach
33	chr2:85972600-85974000	Enhancers	NHDF-Ad	bronchial
34	chr2:85972800-85973200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:85972800-85973800	Enhancers	Adipose Nuclei	Adipose
36	chr2:85972800-85973800	Enhancers	Colon Smooth Muscle	Colon
37	chr2:85972800-85973800	Enhancers	Ovary	ovary
38	chr2:85972800-85973800	Enhancers	Psoas Muscle	Psoas
39	chr2:85972800-85973800	Weak transcription	GM12878-XiMat	blood
40	chr2:85972800-85974000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:85972800-85974000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:85972800-85974200	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:85972800-85974800	Enhancers	Brain Substantia Nigra	brain
44	chr2:85972800-85975400	Weak transcription	Liver	Liver
45	chr2:85972800-85975600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:85972800-85975800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:85972800-85976000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:85972800-85977800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:85973000-85973400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:85973000-85973400	Weak transcription	Aorta	Aorta

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