Variant report

Variant	rs2269747
Chromosome Location	chr7:18663344-18663345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10486291	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10486292	0.84[AMR][1000 genomes]
rs1554772	0.87[AMR][1000 genomes]
rs1633787	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1726599	0.81[ASN][1000 genomes]
rs2157847	0.90[AMR][1000 genomes]
rs2188320	0.80[ASN][1000 genomes]
rs2269749	0.82[ASN][1000 genomes]
rs2285433	0.88[AMR][1000 genomes]
rs3801985	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3814991	0.87[AMR][1000 genomes]
rs3823968	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4719535	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6956139	0.81[ASN][1000 genomes]
rs73063104	0.87[AMR][1000 genomes]
rs73063123	0.89[AMR][1000 genomes]
rs73063125	0.89[AMR][1000 genomes]
rs73063139	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73063173	0.82[ASN][1000 genomes]
rs801539	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	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830917	chr7:18612436-18817712	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18641200-18670800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:18641400-18663400	Weak transcription	Brain Angular Gyrus	brain
3	chr7:18641400-18687600	Weak transcription	Fetal Heart	heart
4	chr7:18644800-18666600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:18644800-18678000	Weak transcription	Fetal Brain Male	brain
6	chr7:18645200-18677800	Weak transcription	NHDF-Ad	bronchial
7	chr7:18645200-18678200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:18645200-18687200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:18645200-18708000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:18645400-18686600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:18645400-18687400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:18645400-18687800	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:18645400-18721000	Weak transcription	Psoas Muscle	Psoas
14	chr7:18645600-18676800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr7:18645800-18663400	Weak transcription	Left Ventricle	heart
16	chr7:18645800-18684400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:18645800-18687400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:18645800-18687400	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:18645800-18706000	Weak transcription	HMEC	breast
20	chr7:18646000-18674000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:18646000-18678000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:18646000-18678000	Weak transcription	Fetal Brain Female	brain
23	chr7:18646000-18687400	Weak transcription	NHEK	skin
24	chr7:18646000-18692400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr7:18647200-18665600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:18647200-18665800	Weak transcription	HSMM	muscle
27	chr7:18647200-18687800	Weak transcription	NH-A	brain
28	chr7:18649200-18675200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:18649200-18687400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:18652000-18677600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:18652400-18668000	Strong transcription	Primary B cells from cord blood	blood
32	chr7:18652800-18671800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr7:18654400-18670600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:18656000-18706000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:18658200-18688000	Weak transcription	Fetal Stomach	stomach
36	chr7:18658400-18670800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:18659200-18665600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:18659200-18678000	Weak transcription	Spleen	Spleen
39	chr7:18659400-18664000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:18660400-18667600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:18660600-18669200	Weak transcription	HSMMtube	muscle
42	chr7:18660600-18669400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:18661200-18663600	Weak transcription	Fetal Intestine Small	intestine
44	chr7:18661800-18699800	Weak transcription	Right Ventricle	heart
45	chr7:18662400-18663800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr7:18662800-18663800	Strong transcription	Brain Germinal Matrix	brain
47	chr7:18662800-18678000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:18662800-18687400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:18663000-18663600	Strong transcription	Aorta	Aorta
50	chr7:18663200-18663400	Weak transcription	H1 Cell Line	embryonic stem cell

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