Variant report

Variant	rs2704284
Chromosome Location	chr7:18645628-18645629
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1554774	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs2188322	0.82[ASN][1000 genomes]
rs2519889	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2695026	0.90[JPT][hapmap]
rs2704280	0.95[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs2704282	0.82[JPT][hapmap]
rs431	0.89[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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18621200-18646800	Weak transcription	HSMM	muscle
2	chr7:18633800-18647000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:18633800-18650000	Weak transcription	Aorta	Aorta
4	chr7:18637800-18647200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:18638400-18647000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:18640000-18646000	ZNF genes & repeats	Primary B cells from cord blood	blood
7	chr7:18640200-18646000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:18640200-18646000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
9	chr7:18641200-18670800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:18641400-18663400	Weak transcription	Brain Angular Gyrus	brain
11	chr7:18641400-18687600	Weak transcription	Fetal Heart	heart
12	chr7:18644000-18646000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:18644400-18645800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:18644400-18645800	ZNF genes & repeats	HSMMtube	muscle
15	chr7:18644400-18645800	ZNF genes & repeats	NH-A	brain
16	chr7:18644400-18646000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:18644800-18645800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:18644800-18666600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:18644800-18678000	Weak transcription	Fetal Brain Male	brain
20	chr7:18645200-18645800	ZNF genes & repeats	Left Ventricle	heart
21	chr7:18645200-18648800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:18645200-18652000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr7:18645200-18653800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:18645200-18654000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:18645200-18659000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:18645200-18677800	Weak transcription	NHDF-Ad	bronchial
27	chr7:18645200-18678200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:18645200-18687200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:18645200-18708000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:18645400-18645800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:18645400-18646000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:18645400-18646800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:18645400-18649000	Weak transcription	Right Ventricle	heart
34	chr7:18645400-18661600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:18645400-18662400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:18645400-18686600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr7:18645400-18687400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:18645400-18687800	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:18645400-18721000	Weak transcription	Psoas Muscle	Psoas
40	chr7:18645600-18645800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:18645600-18645800	ZNF genes & repeats	Fetal Muscle Leg	muscle
42	chr7:18645600-18645800	ZNF genes & repeats	HMEC	breast
43	chr7:18645600-18646000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
44	chr7:18645600-18646000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:18645600-18646000	Strong transcription	NHEK	skin
46	chr7:18645600-18676800	Strong transcription	Primary monocytes fromperipheralblood	blood

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