Variant report

Variant	rs28652749
Chromosome Location	chr7:18645202-18645203
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10215410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10216127	1.00[AMR][1000 genomes]
rs10223900	1.00[AMR][1000 genomes]
rs10225505	1.00[AMR][1000 genomes]
rs10228382	1.00[EUR][1000 genomes]
rs10231336	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10235499	1.00[AMR][1000 genomes]
rs10240266	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10242336	1.00[AMR][1000 genomes]
rs10253117	1.00[EUR][1000 genomes]
rs10259542	1.00[AMR][1000 genomes]
rs10267142	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10267406	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10269126	1.00[AMR][1000 genomes]
rs10273908	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10282189	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12171607	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17139508	1.00[EUR][1000 genomes]
rs1726604	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1918282	1.00[AMR][1000 genomes]
rs28419057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28562712	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28630018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28759229	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28767930	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs801530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9655159	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18621200-18646800	Weak transcription	HSMM	muscle
2	chr7:18633000-18645400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:18633800-18647000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:18633800-18650000	Weak transcription	Aorta	Aorta
5	chr7:18637800-18647200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:18638400-18647000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:18640000-18646000	ZNF genes & repeats	Primary B cells from cord blood	blood
8	chr7:18640200-18646000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:18640200-18646000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
10	chr7:18641000-18645400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:18641200-18670800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:18641400-18663400	Weak transcription	Brain Angular Gyrus	brain
13	chr7:18641400-18687600	Weak transcription	Fetal Heart	heart
14	chr7:18643800-18645400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
15	chr7:18644000-18645400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
16	chr7:18644000-18645600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
17	chr7:18644000-18645600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:18644000-18646000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:18644200-18645400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr7:18644200-18645400	ZNF genes & repeats	Brain Hippocampus Middle	brain
21	chr7:18644400-18645800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:18644400-18645800	ZNF genes & repeats	HSMMtube	muscle
23	chr7:18644400-18645800	ZNF genes & repeats	NH-A	brain
24	chr7:18644400-18646000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:18644600-18645600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:18644800-18645400	ZNF genes & repeats	Psoas Muscle	Psoas
27	chr7:18644800-18645800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:18644800-18666600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:18644800-18678000	Weak transcription	Fetal Brain Male	brain
30	chr7:18645000-18645400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:18645200-18645400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
32	chr7:18645200-18645600	Weak transcription	NHEK	skin
33	chr7:18645200-18645800	ZNF genes & repeats	Left Ventricle	heart
34	chr7:18645200-18648800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:18645200-18652000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr7:18645200-18653800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:18645200-18654000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:18645200-18659000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:18645200-18677800	Weak transcription	NHDF-Ad	bronchial
40	chr7:18645200-18678200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:18645200-18687200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:18645200-18708000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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