Variant report

Variant	rs7530744
Chromosome Location	chr1:56907848-56907849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17114014	1.00[EUR][1000 genomes]
rs17114023	1.00[EUR][1000 genomes]
rs4418655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55721299	1.00[EUR][1000 genomes]
rs56348119	1.00[EUR][1000 genomes]
rs60916914	1.00[EUR][1000 genomes]
rs61309058	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56900600-56912000	Weak transcription	Esophagus	oesophagus
2	chr1:56902000-56912200	Weak transcription	Lung	lung
3	chr1:56902200-56911800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:56903200-56912000	Weak transcription	Fetal Lung	lung
5	chr1:56904200-56912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:56905400-56942600	Weak transcription	Gastric	stomach
7	chr1:56905600-56908200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:56905600-56911000	Weak transcription	Right Atrium	heart
9	chr1:56905600-56912000	Weak transcription	Left Ventricle	heart
10	chr1:56905600-56914800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:56905800-56912200	Weak transcription	Spleen	Spleen
12	chr1:56906000-56908000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:56906000-56908200	Weak transcription	Brain Angular Gyrus	brain
14	chr1:56906000-56910000	Weak transcription	Liver	Liver
15	chr1:56906000-56911200	Weak transcription	Psoas Muscle	Psoas
16	chr1:56906000-56911800	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:56906000-56912000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:56906000-56913600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:56906000-56914800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:56906400-56908200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:56906400-56908400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:56907200-56908000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr1:56907200-56908000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr1:56907200-56908600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr1:56907200-56909000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:56907400-56908000	Weak transcription	HUVEC	blood vessel
27	chr1:56907400-56908400	Enhancers	Brain Substantia Nigra	brain
28	chr1:56907400-56908800	Enhancers	HepG2	liver
29	chr1:56907600-56908400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:56907600-56908600	Enhancers	Brain Hippocampus Middle	brain
31	chr1:56907600-56912200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:56907800-56908000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:56907800-56908400	Enhancers	Brain Anterior Caudate	brain
34	chr1:56907800-56908400	Enhancers	Brain Cingulate Gyrus	brain
35	chr1:56907800-56908600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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