Variant report

Variant	rs2529424
Chromosome Location	chr7:50706838-50706839
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1468449	0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2190497	0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2237449	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2237451	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237461	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237466	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2529393	0.80[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2529419	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2529422	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2529423	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2715096	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2715109	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2715117	0.89[CEU][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes]
rs2715127	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2715143	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6974769	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50674200-50709800	Weak transcription	Esophagus	oesophagus
2	chr7:50694200-50729200	Weak transcription	Hela-S3	cervix
3	chr7:50694600-50707800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:50694600-50708400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:50695000-50720600	Weak transcription	Primary T cells from cord blood	blood
6	chr7:50695600-50716000	Weak transcription	Fetal Stomach	stomach
7	chr7:50697600-50716600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:50697800-50716800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:50698200-50708800	Weak transcription	HSMMtube	muscle
10	chr7:50699600-50707800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:50699600-50720400	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:50700600-50707800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:50700600-50709000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:50700600-50709200	Weak transcription	Gastric	stomach
15	chr7:50700600-50709400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:50700600-50722000	Weak transcription	Aorta	Aorta
17	chr7:50700800-50707600	Weak transcription	Brain Substantia Nigra	brain
18	chr7:50700800-50707800	Weak transcription	Right Atrium	heart
19	chr7:50700800-50708400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:50700800-50709000	Weak transcription	Lung	lung
21	chr7:50700800-50709200	Weak transcription	Adipose Nuclei	Adipose
22	chr7:50701000-50708000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:50701000-50708000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:50701000-50708000	Weak transcription	Pancreas	Pancrea
25	chr7:50701000-50708200	Weak transcription	Brain Anterior Caudate	brain
26	chr7:50701000-50709200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:50701000-50709600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:50701000-50712400	Weak transcription	Ovary	ovary
29	chr7:50701000-50719400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:50701000-50720400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:50701000-50733600	Weak transcription	A549	lung
32	chr7:50701200-50708400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:50701200-50717800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:50701200-50728800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:50701200-50731200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:50701200-50733600	Weak transcription	K562	blood
37	chr7:50701400-50716400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr7:50701400-50729000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:50704800-50708600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:50704800-50711600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:50705000-50707000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:50705000-50707800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:50705000-50707800	Weak transcription	Psoas Muscle	Psoas
44	chr7:50705000-50713000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:50705200-50708000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:50705800-50707800	Weak transcription	Liver	Liver
47	chr7:50705800-50708600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr7:50705800-50709600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:50705800-50724200	Weak transcription	NH-A	brain
50	chr7:50706000-50711400	Weak transcription	HUVEC	blood vessel

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