Variant report

Variant	rs6743301
Chromosome Location	chr2:85969520-85969521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85968240..85969762-chr2:85984026..85986176,2	MCF-7	breast:
2	chr2:85960025..85963728-chr2:85966554..85970726,5	MCF-7	breast:
3	chr2:85958101..85959968-chr2:85968297..85971018,3	MCF-7	breast:
4	chr2:85968047..85970017-chr2:85974638..85977440,3	MCF-7	breast:
5	chr2:85961835..85963960-chr2:85967873..85971227,3	MCF-7	breast:
6	chr2:85965048..85966910-chr2:85967176..85969800,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17026608	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17026610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2009485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2366814	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2366815	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55678683	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56085927	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59731035	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6750921	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9677221	0.80[AMR][1000 genomes];0.84[ASN][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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85965000-85973400	Enhancers	Fetal Muscle Leg	muscle
2	chr2:85966800-85972200	Enhancers	Lung	lung
3	chr2:85967200-85972400	Enhancers	Stomach Mucosa	stomach
4	chr2:85967400-85970000	Enhancers	Adipose Nuclei	Adipose
5	chr2:85967400-85971400	Enhancers	Esophagus	oesophagus
6	chr2:85967800-85970000	Enhancers	Colon Smooth Muscle	Colon
7	chr2:85968000-85971000	Enhancers	Fetal Heart	heart
8	chr2:85968000-85971200	Flanking Active TSS	A549	lung
9	chr2:85968000-85971600	Enhancers	Pancreas	Pancrea
10	chr2:85968000-85971600	Enhancers	NHDF-Ad	bronchial
11	chr2:85968000-85972200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:85968000-85972200	Enhancers	NHLF	lung
13	chr2:85968000-85972600	Enhancers	Fetal Muscle Trunk	muscle
14	chr2:85968000-85974600	Enhancers	Left Ventricle	heart
15	chr2:85968200-85969600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr2:85968200-85969600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr2:85968200-85970000	Enhancers	Rectal Smooth Muscle	rectum
18	chr2:85968200-85970400	Enhancers	Thymus	Thymus
19	chr2:85968200-85970600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr2:85968200-85970600	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr2:85968200-85971000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr2:85968200-85971400	Enhancers	Fetal Brain Male	brain
23	chr2:85968200-85972400	Enhancers	HUVEC	blood vessel
24	chr2:85968200-85973200	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr2:85968200-85973800	Enhancers	Right Ventricle	heart
26	chr2:85968200-85974200	Enhancers	Right Atrium	heart
27	chr2:85968400-85969600	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr2:85968400-85970800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:85968400-85971200	Enhancers	HMEC	breast
30	chr2:85968400-85971600	Enhancers	Spleen	Spleen
31	chr2:85968400-85973400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:85968600-85969600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:85968600-85969600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr2:85968600-85969600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:85968600-85969600	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr2:85968600-85969600	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr2:85968600-85969600	Flanking Active TSS	Fetal Lung	lung
38	chr2:85968600-85969600	Flanking Active TSS	Osteobl	bone
39	chr2:85968600-85970000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr2:85968600-85970200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:85968600-85970400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:85968600-85970400	Flanking Active TSS	Hela-S3	cervix
43	chr2:85968600-85971200	Enhancers	Fetal Thymus	thymus
44	chr2:85968600-85971400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:85968600-85971600	Bivalent Enhancer	Fetal Intestine Small	intestine
46	chr2:85968800-85969600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:85968800-85969600	Bivalent Enhancer	Fetal Intestine Large	intestine
48	chr2:85968800-85970200	Enhancers	Placenta	Placenta
49	chr2:85968800-85970400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:85968800-85970400	Flanking Active TSS	HepG2	liver

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