Variant report

Variant	rs12078253
Chromosome Location	chr1:168482141-168482142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10918916	1.00[AMR][1000 genomes]
rs10918918	1.00[AMR][1000 genomes]
rs12059095	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12061311	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12061688	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12062599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12064517	1.00[AMR][1000 genomes]
rs12064716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12071398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12071533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12075383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12076618	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12087491	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12088031	1.00[AMR][1000 genomes]
rs12088109	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093369	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12095242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12096533	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12096552	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860759	1.00[AMR][1000 genomes]
rs28537856	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014626	chr1:168441288-168642731	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535196	chr1:168441288-168642731	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1011821	chr1:168441488-168642592	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv535197	chr1:168441488-168642592	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1008852	chr1:168449940-168643905	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv535198	chr1:168449940-168643905	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1007846	chr1:168449940-168687265	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168472000-168483000	Weak transcription	Aorta	Aorta
2	chr1:168472600-168483200	Weak transcription	Spleen	Spleen
3	chr1:168475800-168482600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:168477200-168483200	Weak transcription	Pancreas	Pancrea
5	chr1:168478600-168482400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:168478600-168484600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:168479000-168482200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr1:168479000-168482200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:168479000-168482400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:168479000-168483000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:168479000-168483000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr1:168479400-168483200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:168479600-168482200	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:168479600-168483200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:168479800-168482400	Enhancers	Primary T cells from cord blood	blood
16	chr1:168479800-168482400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:168479800-168482600	Weak transcription	Left Ventricle	heart
18	chr1:168479800-168482800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:168479800-168482800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:168479800-168483000	Weak transcription	Esophagus	oesophagus
21	chr1:168479800-168483000	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:168480200-168484800	Enhancers	Fetal Stomach	stomach
23	chr1:168480400-168482800	Enhancers	Fetal Heart	heart
24	chr1:168480400-168483200	Weak transcription	NHDF-Ad	bronchial
25	chr1:168480600-168482200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:168480800-168482600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:168481000-168485200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr1:168481400-168483000	Enhancers	HepG2	liver
29	chr1:168481600-168482200	Enhancers	Dnd41	blood
30	chr1:168481600-168482400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr1:168481600-168483200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr1:168481600-168483400	Enhancers	Lung	lung
33	chr1:168481600-168484000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:168481600-168485200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:168481600-168485200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:168481800-168482200	Weak transcription	GM12878-XiMat	blood
37	chr1:168481800-168483800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr1:168482000-168482600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:168482000-168485000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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