Variant report

Variant	rs12136111
Chromosome Location	chr1:180504025-180504026
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180501965..180504289-chr1:180591221..180593705,2	MCF-7	breast:
2	chr1:180502057..180505158-chr1:180505270..180507785,3	K562	blood:
3	chr1:180501736..180504580-chr1:180849617..180851202,2	K562	blood:
4	chr1:180502690..180506275-chr1:180600837..180603049,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143324	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10158367	0.82[EUR][1000 genomes]
rs10465516	0.82[EUR][1000 genomes]
rs10753212	0.82[EUR][1000 genomes]
rs10753216	0.91[EUR][1000 genomes]
rs10798769	0.83[EUR][1000 genomes]
rs10798770	0.86[EUR][1000 genomes]
rs10798771	0.87[EUR][1000 genomes]
rs10798775	0.87[EUR][1000 genomes]
rs10914001	0.82[EUR][1000 genomes]
rs10914005	0.81[EUR][1000 genomes]
rs10914010	0.82[EUR][1000 genomes]
rs10914014	0.87[EUR][1000 genomes]
rs10914016	0.88[EUR][1000 genomes]
rs10914017	0.88[EUR][1000 genomes]
rs10914018	0.91[EUR][1000 genomes]
rs10914023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10914028	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11580793	0.85[EUR][1000 genomes]
rs11799870	0.82[EUR][1000 genomes]
rs12024201	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12039331	0.89[ASN][1000 genomes]
rs12121043	0.83[EUR][1000 genomes]
rs12127886	0.81[EUR][1000 genomes]
rs12131071	0.82[EUR][1000 genomes]
rs12132837	0.80[EUR][1000 genomes]
rs12135463	0.82[EUR][1000 genomes]
rs12141348	0.83[EUR][1000 genomes]
rs12141848	0.81[EUR][1000 genomes]
rs12561776	0.82[EUR][1000 genomes]
rs12565492	0.91[EUR][1000 genomes]
rs12730889	0.82[EUR][1000 genomes]
rs1416821	0.83[EUR][1000 genomes]
rs1538622	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1934410	0.87[EUR][1000 genomes]
rs2105232	0.87[EUR][1000 genomes]
rs4142992	0.80[EUR][1000 genomes]
rs4418555	0.81[EUR][1000 genomes]
rs4651064	0.82[EUR][1000 genomes]
rs4652505	0.86[EUR][1000 genomes]
rs6425644	0.85[ASN][1000 genomes]
rs6425645	0.85[ASN][1000 genomes]
rs6670544	0.80[EUR][1000 genomes]
rs6674244	0.81[EUR][1000 genomes]
rs6697924	0.82[EUR][1000 genomes]
rs6699076	0.86[ASN][1000 genomes]
rs6700986	0.81[EUR][1000 genomes]
rs7523857	0.81[EUR][1000 genomes]
rs7528650	0.82[EUR][1000 genomes]
rs7540276	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7543366	0.98[EUR][1000 genomes];0.82[ASN][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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180491600-180511200	Weak transcription	Psoas Muscle	Psoas
2	chr1:180494400-180508200	Weak transcription	Right Ventricle	heart
3	chr1:180496600-180508000	Weak transcription	Right Atrium	heart
4	chr1:180497800-180511200	Weak transcription	Aorta	Aorta
5	chr1:180500000-180505200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:180500000-180511200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:180500600-180505600	Weak transcription	Placenta	Placenta
8	chr1:180502600-180506000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:180502600-180506200	Enhancers	K562	blood
10	chr1:180502800-180506000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:180502800-180506600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:180503200-180508000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:180503600-180504200	Enhancers	Left Ventricle	heart
14	chr1:180503600-180506200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:180503600-180510200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:180503800-180505600	Weak transcription	Fetal Heart	heart
17	chr1:180503800-180505800	Weak transcription	Pancreas	Pancrea
18	chr1:180504000-180509000	Weak transcription	HMEC	breast

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