Variant report

Variant	rs12076425
Chromosome Location	chr1:174270416-174270417
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174257821..174260787-chr1:174268762..174270773,2	MCF-7	breast:
2	chr1:174269404..174272933-chr1:174275940..174280582,4	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10489257	1.00[EUR][1000 genomes]
rs10912725	1.00[EUR][1000 genomes]
rs10912742	1.00[EUR][1000 genomes]
rs10912743	1.00[EUR][1000 genomes]
rs10912744	1.00[EUR][1000 genomes]
rs10912748	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10912760	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10912767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912768	1.00[EUR][1000 genomes]
rs10912783	1.00[EUR][1000 genomes]
rs10912784	1.00[EUR][1000 genomes]
rs10912785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12057220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12058498	1.00[EUR][1000 genomes]
rs12059051	1.00[EUR][1000 genomes]
rs12059636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059902	1.00[EUR][1000 genomes]
rs12066028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12067445	1.00[EUR][1000 genomes]
rs12069450	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12070328	1.00[EUR][1000 genomes]
rs12071243	1.00[EUR][1000 genomes]
rs12073453	1.00[EUR][1000 genomes]
rs12075085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075263	1.00[EUR][1000 genomes]
rs12075962	1.00[EUR][1000 genomes]
rs12077462	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12078222	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079274	1.00[EUR][1000 genomes]
rs12081444	1.00[EUR][1000 genomes]
rs12081595	1.00[EUR][1000 genomes]
rs12082017	1.00[EUR][1000 genomes]
rs12083355	1.00[EUR][1000 genomes]
rs12084911	1.00[EUR][1000 genomes]
rs12088180	0.85[AFR][1000 genomes]
rs12090908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12092291	1.00[EUR][1000 genomes]
rs12094140	1.00[EUR][1000 genomes]
rs12094364	1.00[EUR][1000 genomes]
rs12096013	1.00[EUR][1000 genomes]
rs12096718	1.00[EUR][1000 genomes]
rs12354281	1.00[EUR][1000 genomes]
rs1467397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846878	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1956522	1.00[EUR][1000 genomes]
rs6659951	1.00[AMR][1000 genomes]
rs6673147	1.00[EUR][1000 genomes]
rs6682041	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1008314	chr1:174080192-174311023	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv535207	chr1:174080192-174311023	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv1800060	chr1:174132703-174501836	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv465672	chr1:174133251-174469905	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv548194	chr1:174133251-174469905	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv470746	chr1:174150850-174469905	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1001803	chr1:174176164-174367747	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1008993	chr1:174180019-174331358	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv872553	chr1:174195629-174373379	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv872554	chr1:174209978-174291950	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv1010069	chr1:174215293-174539512	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174240000-174270600	Weak transcription	Colonic Mucosa	Colon
2	chr1:174242800-174277200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:174243800-174275800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:174244400-174274000	Weak transcription	Fetal Heart	heart
5	chr1:174246200-174284200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:174251200-174275800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:174251400-174276000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:174259600-174272200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:174259600-174276200	Weak transcription	Brain Anterior Caudate	brain
10	chr1:174259600-174277800	Weak transcription	K562	blood
11	chr1:174259800-174273800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:174259800-174274000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:174260200-174274000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:174260200-174275800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:174260400-174276200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:174260400-174277200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:174260600-174275600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:174262000-174274000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:174262800-174270600	Weak transcription	HSMM	muscle
20	chr1:174264800-174275400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:174268400-174272000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:174269400-174270800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr1:174269400-174271200	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr1:174269600-174270800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
25	chr1:174269600-174270800	ZNF genes & repeats	Fetal Intestine Large	intestine
26	chr1:174269600-174271200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr1:174269800-174270800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
28	chr1:174269800-174270800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
29	chr1:174269800-174271000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr1:174269800-174271200	ZNF genes & repeats	Primary B cells from cord blood	blood
31	chr1:174269800-174271200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
32	chr1:174269800-174271200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:174269800-174271200	ZNF genes & repeats	Brain Hippocampus Middle	brain
34	chr1:174269800-174271200	ZNF genes & repeats	Lung	lung
35	chr1:174269800-174271400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr1:174270000-174270600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:174270000-174270600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:174270000-174270800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
39	chr1:174270000-174270800	ZNF genes & repeats	Aorta	Aorta
40	chr1:174270000-174270800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
41	chr1:174270000-174270800	ZNF genes & repeats	Fetal Stomach	stomach
42	chr1:174270000-174270800	ZNF genes & repeats	Right Ventricle	heart
43	chr1:174270000-174270800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
44	chr1:174270000-174271000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:174270000-174271000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
46	chr1:174270000-174271000	ZNF genes & repeats	Thymus	Thymus
47	chr1:174270000-174271000	ZNF genes & repeats	Spleen	Spleen
48	chr1:174270000-174271200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:174270000-174271200	ZNF genes & repeats	Ovary	ovary
50	chr1:174270000-174271200	ZNF genes & repeats	Pancreas	Pancrea

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