Variant report

Variant	rs17113634
Chromosome Location	chr1:56751839-56751840
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11206775	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12026512	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12031412	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12062012	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12070360	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12409671	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17113636	0.93[AFR][1000 genomes]
rs17113649	0.96[AFR][1000 genomes]
rs4076887	0.82[AFR][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	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:32 , 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	chr1:56750800-56752000	Enhancers	HUVEC	blood vessel
14	chr1:56751000-56752000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:56751000-56752000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:56751000-56752000	Enhancers	Fetal Stomach	stomach
17	chr1:56751000-56752200	Enhancers	Dnd41	blood
18	chr1:56751000-56752800	Enhancers	Psoas Muscle	Psoas
19	chr1:56751000-56753000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:56751000-56753200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:56751000-56753600	Enhancers	Placenta	Placenta
22	chr1:56751000-56753600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:56751200-56752000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:56751200-56752000	Enhancers	Fetal Thymus	thymus
25	chr1:56751200-56752800	Enhancers	Right Atrium	heart
26	chr1:56751200-56753400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr1:56751200-56753400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr1:56751200-56756000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:56751400-56756800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:56751400-56757600	Weak transcription	Pancreas	Pancrea
31	chr1:56751600-56752000	Enhancers	HSMM	muscle
32	chr1:56751800-56756800	Weak transcription	Lung	lung

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