Variant report

Variant	rs12126142
Chromosome Location	chr1:154425456-154425457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154325453..154327893-chr1:154424368..154426017,2	MCF-7	breast:
2	chr1:154424322..154425827-chr1:154428011..154430297,2	K562	blood:
3	chr1:154423682..154425869-chr1:154434875..154437152,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11265613	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12133641	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12730036	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12730935	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12753254	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2228145	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4129267	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4393147	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4453032	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4537545	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4576655	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4845372	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4845373	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4845620	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4845621	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4845622	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4845623	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56383622	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61812598	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6664201	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6684439	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7512646	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518199	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7521458	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7529229	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154403200-154426000	Weak transcription	Brain Angular Gyrus	brain
2	chr1:154406200-154425600	Weak transcription	Primary B cells from cord blood	blood
3	chr1:154408600-154425800	Weak transcription	Brain Substantia Nigra	brain
4	chr1:154408800-154425600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:154409200-154425800	Weak transcription	Right Atrium	heart
6	chr1:154412600-154425800	Weak transcription	Psoas Muscle	Psoas
7	chr1:154412800-154425800	Weak transcription	HepG2	liver
8	chr1:154414600-154426000	Weak transcription	Thymus	Thymus
9	chr1:154414800-154436000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:154415800-154425800	Weak transcription	Esophagus	oesophagus
11	chr1:154416200-154435800	Strong transcription	Liver	Liver
12	chr1:154416600-154425600	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:154417400-154428000	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:154417800-154426000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:154418000-154425600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:154418000-154425800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:154418000-154428000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:154418000-154440000	Weak transcription	Small Intestine	intestine
19	chr1:154418600-154432800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr1:154418800-154425800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:154419200-154425600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:154419200-154425800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:154419200-154425800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr1:154419200-154427200	Weak transcription	Ovary	ovary
25	chr1:154419200-154432200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:154419200-154435800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:154419400-154425600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:154419600-154425600	Weak transcription	Osteobl	bone
29	chr1:154420400-154425800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:154420400-154425800	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:154420600-154425800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:154420800-154428000	Strong transcription	Colon Smooth Muscle	Colon
33	chr1:154421200-154425600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:154421200-154426200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:154421200-154426200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:154421400-154425800	Weak transcription	Fetal Lung	lung
37	chr1:154421800-154431800	Strong transcription	Rectal Smooth Muscle	rectum
38	chr1:154422400-154425600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:154422600-154434400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr1:154422600-154437600	Weak transcription	Pancreas	Pancrea
41	chr1:154422800-154425800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:154422800-154425800	Weak transcription	HMEC	breast
43	chr1:154422800-154426000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:154423000-154425600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:154423200-154425800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr1:154423600-154425600	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:154423600-154425600	Weak transcription	Placenta	Placenta
48	chr1:154423600-154425800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:154423600-154425800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr1:154423600-154425800	Weak transcription	Muscle Satellite Cultured Cells	--

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