Variant report

Variant	rs73063173
Chromosome Location	chr7:18671458-18671459
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10486291	0.86[ASN][1000 genomes]
rs1633787	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2188320	0.84[ASN][1000 genomes]
rs2269747	0.82[ASN][1000 genomes]
rs2269749	0.96[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2285433	0.90[ASN][1000 genomes]
rs3823968	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4719535	0.84[ASN][1000 genomes]
rs6956139	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs801539	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18641400-18687600	Weak transcription	Fetal Heart	heart
2	chr7:18644800-18678000	Weak transcription	Fetal Brain Male	brain
3	chr7:18645200-18677800	Weak transcription	NHDF-Ad	bronchial
4	chr7:18645200-18678200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:18645200-18687200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:18645200-18708000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:18645400-18686600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:18645400-18687400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:18645400-18687800	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:18645400-18721000	Weak transcription	Psoas Muscle	Psoas
11	chr7:18645600-18676800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr7:18645800-18684400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:18645800-18687400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:18645800-18687400	Weak transcription	Fetal Muscle Leg	muscle
15	chr7:18645800-18706000	Weak transcription	HMEC	breast
16	chr7:18646000-18674000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:18646000-18678000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:18646000-18678000	Weak transcription	Fetal Brain Female	brain
19	chr7:18646000-18687400	Weak transcription	NHEK	skin
20	chr7:18646000-18692400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr7:18647200-18687800	Weak transcription	NH-A	brain
22	chr7:18649200-18675200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:18649200-18687400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:18652000-18677600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:18652800-18671800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr7:18656000-18706000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:18658200-18688000	Weak transcription	Fetal Stomach	stomach
28	chr7:18659200-18678000	Weak transcription	Spleen	Spleen
29	chr7:18661800-18699800	Weak transcription	Right Ventricle	heart
30	chr7:18662800-18678000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:18662800-18687400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:18663600-18676200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr7:18663600-18688000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:18663800-18684200	Weak transcription	Left Ventricle	heart
35	chr7:18663800-18687400	Weak transcription	Aorta	Aorta
36	chr7:18663800-18687400	Weak transcription	Brain Germinal Matrix	brain
37	chr7:18664400-18677000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr7:18664800-18675200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:18667400-18678000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:18668000-18675800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:18669000-18676800	Strong transcription	Primary B cells from cord blood	blood
42	chr7:18669200-18687400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:18670000-18678000	Weak transcription	HSMMtube	muscle
44	chr7:18670800-18671600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr7:18670800-18671600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr7:18671000-18671600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr7:18671000-18671600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr7:18671200-18680400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:18671400-18671600	Enhancers	H9 Cell Line	embryonic stem cell
50	chr7:18671400-18679600	Weak transcription	Small Intestine	intestine

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