Variant report

Variant	rs73311471
Chromosome Location	chr7:18686993-18686994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10226245	1.00[AMR][1000 genomes]
rs10240305	1.00[EUR][1000 genomes]
rs10241413	1.00[EUR][1000 genomes]
rs10243449	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10247766	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11982882	1.00[EUR][1000 genomes]
rs28412143	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3852248	1.00[EUR][1000 genomes]
rs4605958	1.00[EUR][1000 genomes]
rs58820211	1.00[EUR][1000 genomes]
rs59508709	1.00[EUR][1000 genomes]
rs61710852	1.00[EUR][1000 genomes]
rs73309431	1.00[EUR][1000 genomes]
rs73309436	1.00[EUR][1000 genomes]
rs73309439	1.00[EUR][1000 genomes]
rs73309445	1.00[EUR][1000 genomes]
rs73309460	1.00[EUR][1000 genomes]
rs73309462	1.00[EUR][1000 genomes]
rs73309467	1.00[EUR][1000 genomes]
rs73309471	1.00[EUR][1000 genomes]
rs73309546	1.00[EUR][1000 genomes]
rs73309559	1.00[EUR][1000 genomes]
rs73309576	1.00[EUR][1000 genomes]
rs73309579	1.00[EUR][1000 genomes]
rs73309582	1.00[EUR][1000 genomes]
rs73309583	1.00[EUR][1000 genomes]
rs73309585	1.00[EUR][1000 genomes]
rs73311460	1.00[EUR][1000 genomes]
rs73311474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73311499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313258	1.00[EUR][1000 genomes]
rs73313265	1.00[EUR][1000 genomes]
rs73313268	1.00[EUR][1000 genomes]
rs73313274	1.00[EUR][1000 genomes]
rs73313277	1.00[EUR][1000 genomes]
rs73313283	1.00[EUR][1000 genomes]
rs73313295	1.00[EUR][1000 genomes]
rs73313298	1.00[EUR][1000 genomes]
rs73313299	1.00[EUR][1000 genomes]
rs73313328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313388	1.00[EUR][1000 genomes]
rs73313400	1.00[EUR][1000 genomes]
rs73313402	1.00[EUR][1000 genomes]
rs73315005	1.00[EUR][1000 genomes]
rs73315007	1.00[EUR][1000 genomes]
rs73315009	1.00[EUR][1000 genomes]
rs73315010	1.00[EUR][1000 genomes]
rs73315435	1.00[EUR][1000 genomes]
rs7812153	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv531368	chr7:18677922-18836920	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18641400-18687600	Weak transcription	Fetal Heart	heart
2	chr7:18645200-18687200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:18645200-18708000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:18645400-18687400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:18645400-18687800	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:18645400-18721000	Weak transcription	Psoas Muscle	Psoas
7	chr7:18645800-18687400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:18645800-18687400	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:18645800-18706000	Weak transcription	HMEC	breast
10	chr7:18646000-18687400	Weak transcription	NHEK	skin
11	chr7:18646000-18692400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr7:18647200-18687800	Weak transcription	NH-A	brain
13	chr7:18649200-18687400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:18656000-18706000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:18658200-18688000	Weak transcription	Fetal Stomach	stomach
16	chr7:18661800-18699800	Weak transcription	Right Ventricle	heart
17	chr7:18662800-18687400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:18663600-18688000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:18663800-18687400	Weak transcription	Aorta	Aorta
20	chr7:18663800-18687400	Weak transcription	Brain Germinal Matrix	brain
21	chr7:18669200-18687400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:18671400-18687400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:18671400-18692600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:18671400-18705600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:18671600-18694400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:18673200-18707000	Weak transcription	Fetal Kidney	kidney
27	chr7:18676000-18687400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:18676200-18687400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:18677400-18687600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:18677600-18691800	Strong transcription	Primary B cells from cord blood	blood
31	chr7:18678400-18702000	Weak transcription	Spleen	Spleen
32	chr7:18678400-18721200	Weak transcription	Brain Substantia Nigra	brain
33	chr7:18678600-18687400	Weak transcription	Adipose Nuclei	Adipose
34	chr7:18678600-18687400	Weak transcription	Brain Angular Gyrus	brain
35	chr7:18678600-18687800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:18678600-18695400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:18678600-18695800	Weak transcription	Brain Anterior Caudate	brain
38	chr7:18679000-18688200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:18679600-18692000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:18679600-18698000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:18679800-18687600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:18680400-18687400	Weak transcription	Fetal Brain Female	brain
43	chr7:18680800-18687600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr7:18682200-18687400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr7:18682200-18687400	Weak transcription	HSMMtube	muscle
46	chr7:18682200-18695400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr7:18682400-18687600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:18682400-18706000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr7:18683200-18691600	Weak transcription	HSMM	muscle
50	chr7:18683400-18687400	Weak transcription	NHDF-Ad	bronchial

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