Variant report

Variant	rs73113067
Chromosome Location	chr7:50704093-50704094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs17449259	0.83[AMR][1000 genomes]
rs17544866	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17544971	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17545714	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17546034	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17546062	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17546146	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17546202	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17546223	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3819431	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4612291	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55716906	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55857758	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56037477	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60767324	0.97[ASN][1000 genomes]
rs73113031	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73113047	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73113061	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73113068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73113089	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73113093	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73113096	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73113099	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114804	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114807	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114809	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114873	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73114877	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73114878	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73114889	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73114899	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73114901	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7456111	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs956117	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50674200-50709800	Weak transcription	Esophagus	oesophagus
2	chr7:50682600-50704600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:50693600-50705400	Weak transcription	NH-A	brain
4	chr7:50694200-50729200	Weak transcription	Hela-S3	cervix
5	chr7:50694600-50707800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:50694600-50708400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:50695000-50720600	Weak transcription	Primary T cells from cord blood	blood
8	chr7:50695600-50716000	Weak transcription	Fetal Stomach	stomach
9	chr7:50697600-50716600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:50697800-50716800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:50698200-50708800	Weak transcription	HSMMtube	muscle
12	chr7:50699600-50707800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:50699600-50720400	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:50700600-50707800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:50700600-50709000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:50700600-50709200	Weak transcription	Gastric	stomach
17	chr7:50700600-50709400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:50700600-50722000	Weak transcription	Aorta	Aorta
19	chr7:50700800-50705000	Weak transcription	HepG2	liver
20	chr7:50700800-50705600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:50700800-50707600	Weak transcription	Brain Substantia Nigra	brain
22	chr7:50700800-50707800	Weak transcription	Right Atrium	heart
23	chr7:50700800-50708400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:50700800-50709000	Weak transcription	Lung	lung
25	chr7:50700800-50709200	Weak transcription	Adipose Nuclei	Adipose
26	chr7:50701000-50708000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr7:50701000-50708000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:50701000-50708000	Weak transcription	Pancreas	Pancrea
29	chr7:50701000-50708200	Weak transcription	Brain Anterior Caudate	brain
30	chr7:50701000-50709200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:50701000-50709600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:50701000-50712400	Weak transcription	Ovary	ovary
33	chr7:50701000-50719400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:50701000-50720400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr7:50701000-50733600	Weak transcription	A549	lung
36	chr7:50701200-50705200	Weak transcription	Liver	Liver
37	chr7:50701200-50705400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr7:50701200-50706200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:50701200-50708400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:50701200-50717800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:50701200-50728800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:50701200-50731200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr7:50701200-50733600	Weak transcription	K562	blood
44	chr7:50701400-50716400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr7:50701400-50729000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:50702000-50705000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
47	chr7:50702600-50704600	Weak transcription	Psoas Muscle	Psoas
48	chr7:50703800-50704200	Enhancers	HUVEC	blood vessel
49	chr7:50703800-50705600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:50704000-50704800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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