Variant report

Variant	rs12095564
Chromosome Location	chr1:180499254-180499255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180497440..180500935-chr1:180506480..180510504,4	K562	blood:
2	chr1:180491722..180497520-chr1:180497939..180503107,7	MCF-7	breast:
3	chr1:180498180..180501073-chr1:180520862..180523498,2	MCF-7	breast:
4	chr1:180496778..180499562-chr1:180501152..180503837,3	K562	blood:
5	chr1:180470507..180472649-chr1:180497010..180499983,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135847	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10913989	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10913993	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10913997	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10914008	0.83[AFR][1000 genomes]
rs10914015	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10914025	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10914026	1.00[AMR][1000 genomes]
rs10914039	1.00[AMR][1000 genomes]
rs12060090	0.91[AFR][1000 genomes]
rs12060290	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12060882	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12065345	1.00[AMR][1000 genomes]
rs12065470	1.00[AMR][1000 genomes]
rs12068605	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12076376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12078865	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080367	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080976	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091034	1.00[AMR][1000 genomes]
rs12096761	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12098212	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12354363	1.00[AMR][1000 genomes]
rs16856167	1.00[AMR][1000 genomes]
rs73051243	1.00[AMR][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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 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	chr1:180486000-180499400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:180488000-180500400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:180491000-180499400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:180491400-180499400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:180491600-180511200	Weak transcription	Psoas Muscle	Psoas
6	chr1:180492400-180499400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:180492400-180503000	Weak transcription	Pancreas	Pancrea
8	chr1:180494200-180502200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:180494200-180503000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:180494400-180508200	Weak transcription	Right Ventricle	heart
11	chr1:180494600-180503000	Weak transcription	Fetal Lung	lung
12	chr1:180495000-180502200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:180495000-180503800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:180495200-180502600	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:180496400-180499400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:180496600-180499400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:180496600-180499600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:180496600-180508000	Weak transcription	Right Atrium	heart
19	chr1:180496800-180503600	Weak transcription	Left Ventricle	heart
20	chr1:180497000-180499400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:180497000-180499400	Weak transcription	Osteobl	bone
22	chr1:180497000-180502400	Weak transcription	Fetal Heart	heart
23	chr1:180497000-180502600	Weak transcription	K562	blood
24	chr1:180497600-180500200	Enhancers	HUVEC	blood vessel
25	chr1:180497800-180511200	Weak transcription	Aorta	Aorta
26	chr1:180498000-180500000	Enhancers	HSMMtube	muscle
27	chr1:180498200-180499800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:180498200-180502800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:180498400-180500200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:180498600-180499400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:180498800-180500200	Enhancers	HMEC	breast
32	chr1:180499200-180499400	Enhancers	Lung	lung
33	chr1:180499200-180499600	Bivalent Enhancer	Small Intestine	intestine
34	chr1:180499200-180499600	Enhancers	HSMM	muscle
35	chr1:180499200-180499800	Enhancers	Fetal Intestine Small	intestine
36	chr1:180499200-180500000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr1:180499200-180500000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:180499200-180500000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:180499200-180500000	Enhancers	Esophagus	oesophagus
40	chr1:180499200-180500000	Enhancers	A549	lung
41	chr1:180499200-180500000	Enhancers	HepG2	liver
42	chr1:180499200-180500200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:180499200-180500200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:180499200-180500200	Enhancers	Adipose Nuclei	Adipose
45	chr1:180499200-180500200	Enhancers	Hela-S3	cervix
46	chr1:180499200-180500200	Enhancers	NHEK	skin
47	chr1:180499200-180500600	Enhancers	Placenta	Placenta

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