Variant report

Variant	rs12095242
Chromosome Location	chr1:168476030-168476031
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:168474919..168477092-chr1:168477374..168479574,2	MCF-7	breast:
2	chr1:168474261..168477082-chr1:168484366..168486657,2	MCF-7	breast:
3	chr1:168470086..168472629-chr1:168474827..168477512,2	K562	blood:
4	chr1:168472959..168474746-chr1:168475771..168477537,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10918889	1.00[EUR][1000 genomes]
rs10918890	1.00[EUR][1000 genomes]
rs10918891	1.00[EUR][1000 genomes]
rs10918892	1.00[EUR][1000 genomes]
rs10918893	1.00[EUR][1000 genomes]
rs10918895	1.00[EUR][1000 genomes]
rs10918896	1.00[EUR][1000 genomes]
rs10918913	1.00[EUR][1000 genomes]
rs10918914	1.00[EUR][1000 genomes]
rs10918915	1.00[EUR][1000 genomes]
rs10918916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10918918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10918929	1.00[EUR][1000 genomes]
rs12058640	1.00[EUR][1000 genomes]
rs12059095	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059526	1.00[EUR][1000 genomes]
rs12059722	1.00[EUR][1000 genomes]
rs12060094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060180	1.00[EUR][1000 genomes]
rs12061311	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061688	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12062599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12065600	1.00[EUR][1000 genomes]
rs12069600	1.00[EUR][1000 genomes]
rs12071398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12071533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12071580	1.00[EUR][1000 genomes]
rs12071946	1.00[EUR][1000 genomes]
rs12072708	1.00[EUR][1000 genomes]
rs12072756	1.00[EUR][1000 genomes]
rs12073928	1.00[EUR][1000 genomes]
rs12075383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12076618	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080560	1.00[EUR][1000 genomes]
rs12086182	1.00[EUR][1000 genomes]
rs12087491	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088109	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093369	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093899	1.00[EUR][1000 genomes]
rs12095394	1.00[EUR][1000 genomes]
rs12096533	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12096552	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12563551	1.00[EUR][1000 genomes]
rs1323524	1.00[EUR][1000 genomes]
rs16860744	1.00[EUR][1000 genomes]
rs16860745	1.00[EUR][1000 genomes]
rs16860750	1.00[EUR][1000 genomes]
rs16860759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2092400	1.00[EUR][1000 genomes]
rs28537856	1.00[AMR][1000 genomes]
rs58887669	1.00[EUR][1000 genomes]
rs60094342	1.00[EUR][1000 genomes]
rs6674956	1.00[EUR][1000 genomes]
rs73027529	1.00[EUR][1000 genomes]
rs73031504	1.00[EUR][1000 genomes]
rs73031508	1.00[EUR][1000 genomes]
rs74120912	1.00[EUR][1000 genomes]
rs74120961	1.00[EUR][1000 genomes]
rs74120963	1.00[EUR][1000 genomes]
rs74120965	1.00[EUR][1000 genomes]
rs74123943	1.00[EUR][1000 genomes]
rs74123944	1.00[EUR][1000 genomes]
rs7526174	1.00[EUR][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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168468200-168476400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:168468800-168478600	Weak transcription	HepG2	liver
3	chr1:168469200-168476800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:168472000-168483000	Weak transcription	Aorta	Aorta
5	chr1:168472600-168483200	Weak transcription	Spleen	Spleen
6	chr1:168472800-168477200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:168473000-168477600	Enhancers	HMEC	breast
8	chr1:168473200-168477400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:168474000-168476400	Weak transcription	Pancreas	Pancrea
10	chr1:168474000-168476600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:168474000-168478600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:168474200-168479800	Weak transcription	Primary T cells from cord blood	blood
13	chr1:168474200-168481000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:168474400-168477200	Weak transcription	GM12878-XiMat	blood
15	chr1:168474400-168479000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:168474400-168479000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:168474600-168476200	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:168474600-168476800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:168474600-168477200	Enhancers	NHLF	lung
20	chr1:168474600-168479000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:168474600-168481600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:168474800-168476400	Weak transcription	Psoas Muscle	Psoas
23	chr1:168474800-168476400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:168474800-168477200	Enhancers	NHEK	skin
25	chr1:168474800-168478600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:168475200-168476600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:168475200-168476600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:168475200-168477000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:168475200-168478600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:168475400-168476800	Enhancers	HSMM	muscle
31	chr1:168475400-168477000	Weak transcription	Small Intestine	intestine
32	chr1:168475400-168479800	Enhancers	Fetal Muscle Leg	muscle
33	chr1:168475600-168476200	Enhancers	Hela-S3	cervix
34	chr1:168475600-168476800	Enhancers	HSMMtube	muscle
35	chr1:168475600-168478200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr1:168475800-168476400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:168475800-168476800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr1:168475800-168477800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:168475800-168478200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr1:168475800-168478800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:168475800-168480400	Enhancers	NHDF-Ad	bronchial
42	chr1:168475800-168482600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:168476000-168476200	Enhancers	NH-A	brain
44	chr1:168476000-168476600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:168476000-168476600	Enhancers	Osteobl	bone
46	chr1:168476000-168477600	Enhancers	Rectal Smooth Muscle	rectum
47	chr1:168476000-168479600	Enhancers	Duodenum Smooth Muscle	Duodenum

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