Variant report

Variant	rs28767930
Chromosome Location	chr7:18643457-18643458
allele	C/T
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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10235499	1.00[AMR][1000 genomes]
rs10240266	0.88[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10267406	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10269126	1.00[AMR][1000 genomes]
rs10273908	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10282189	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12171607	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17139508	1.00[EUR][1000 genomes]
rs1726604	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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28630018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28652749	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28759229	0.82[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	0.85[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18614600-18644200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:18621200-18646800	Weak transcription	HSMM	muscle
3	chr7:18621800-18643600	Weak transcription	Brain Germinal Matrix	brain
4	chr7:18633000-18645400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:18633800-18647000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:18633800-18650000	Weak transcription	Aorta	Aorta
7	chr7:18637800-18647200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:18638000-18645200	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:18638400-18647000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:18640000-18645200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr7:18640000-18646000	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr7:18640200-18646000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:18640200-18646000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
14	chr7:18640400-18644000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:18640400-18645200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:18640800-18644000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr7:18640800-18644000	Weak transcription	Left Ventricle	heart
18	chr7:18641000-18645400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:18641200-18643800	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:18641200-18644200	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:18641200-18670800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:18641400-18644000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:18641400-18644200	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:18641400-18644400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:18641400-18644800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:18641400-18644800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:18641400-18663400	Weak transcription	Brain Angular Gyrus	brain
28	chr7:18641400-18687600	Weak transcription	Fetal Heart	heart
29	chr7:18641600-18643800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:18641600-18644400	Weak transcription	HSMMtube	muscle
31	chr7:18641600-18644400	Weak transcription	NH-A	brain
32	chr7:18642200-18643800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr7:18642600-18644400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr7:18643200-18644000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:18643400-18645200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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