Variant report

Variant	rs2211292
Chromosome Location	chr1:56751380-56751381
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1149647	0.82[EUR][1000 genomes]
rs1230037	0.84[EUR][1000 genomes]
rs1236961	0.82[EUR][1000 genomes]
rs1341341	0.81[EUR][1000 genomes]
rs1557060	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1557061	0.91[EUR][1000 genomes]
rs1935050	0.92[CEU][hapmap]
rs2000147	0.84[EUR][1000 genomes]
rs2096085	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2404524	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4927309	0.81[EUR][1000 genomes]
rs697583	0.83[EUR][1000 genomes]
rs706375	0.82[EUR][1000 genomes]
rs706376	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs706383	0.83[EUR][1000 genomes]
rs706395	0.81[EUR][1000 genomes]
rs7538742	0.93[EUR][1000 genomes]
rs778382	0.80[EUR][1000 genomes]
rs778397	0.84[EUR][1000 genomes]
rs778410	0.84[EUR][1000 genomes]
rs778425	0.82[EUR][1000 genomes]
rs778428	0.81[EUR][1000 genomes]
rs778430	0.82[EUR][1000 genomes]
rs778431	0.82[EUR][1000 genomes]
rs947008	0.92[CEU][hapmap]

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	nsv1006422	chr1:56734772-56828606	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv534972	chr1:56734772-56828606	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56745400-56757000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:56748400-56759600	Weak transcription	Aorta	Aorta
3	chr1:56750000-56752200	Enhancers	HepG2	liver
4	chr1:56750000-56753400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:56750200-56752000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:56750200-56752000	Enhancers	HSMMtube	muscle
7	chr1:56750200-56752200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:56750200-56752200	Enhancers	Left Ventricle	heart
9	chr1:56750200-56752600	Enhancers	Fetal Muscle Leg	muscle
10	chr1:56750200-56752800	Enhancers	Adipose Nuclei	Adipose
11	chr1:56750200-56752800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr1:56750200-56753000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr1:56750600-56751400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:56750800-56751400	Enhancers	Colon Smooth Muscle	Colon
15	chr1:56750800-56751400	Flanking Active TSS	A549	lung
16	chr1:56750800-56752000	Enhancers	HUVEC	blood vessel
17	chr1:56751000-56751800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:56751000-56751800	Enhancers	Lung	lung
19	chr1:56751000-56752000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:56751000-56752000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:56751000-56752000	Enhancers	Fetal Stomach	stomach
22	chr1:56751000-56752200	Enhancers	Dnd41	blood
23	chr1:56751000-56752800	Enhancers	Psoas Muscle	Psoas
24	chr1:56751000-56753000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:56751000-56753200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:56751000-56753600	Enhancers	Placenta	Placenta
27	chr1:56751000-56753600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr1:56751200-56751400	Enhancers	Pancreas	Pancrea
29	chr1:56751200-56752000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:56751200-56752000	Enhancers	Fetal Thymus	thymus
31	chr1:56751200-56752800	Enhancers	Right Atrium	heart
32	chr1:56751200-56753400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr1:56751200-56753400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr1:56751200-56756000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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