Variant report

Variant	rs1024529
Chromosome Location	chr7:50812873-50812874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1024531	0.97[AFR][1000 genomes]
rs10272063	0.80[ASN][1000 genomes]
rs10278363	0.84[CEU][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs10486761	0.89[YRI][hapmap]
rs12536500	0.92[CEU][hapmap];0.80[CHB][hapmap];0.88[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12665949	0.81[JPT][hapmap]
rs13236710	0.90[CHB][hapmap]
rs17134002	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17152120	0.90[CHB][hapmap]
rs1962390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1962391	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1978208	0.88[JPT][hapmap]
rs2329424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2329490	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2329491	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2329494	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2529399	0.89[ASN][1000 genomes]
rs2715119	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs3779072	1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3801000	0.92[AFR][1000 genomes]
rs4947828	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4947861	0.82[CEU][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs6593145	0.83[ASN][1000 genomes]
rs6593164	0.88[YRI][hapmap]
rs6593182	0.88[JPT][hapmap]
rs6943153	0.81[AFR][1000 genomes]
rs6967612	0.81[YRI][hapmap]
rs6968827	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7383871	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs757774	0.87[YRI][hapmap]
rs7780348	0.92[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7782797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7793570	0.82[JPT][hapmap]
rs7794299	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7809623	0.81[AFR][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	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	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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50788000-50816000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:50798600-50822600	Weak transcription	Ovary	ovary
3	chr7:50798800-50815200	Weak transcription	Aorta	Aorta
4	chr7:50798800-50815200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:50798800-50824800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:50798800-50832400	Weak transcription	HSMM	muscle
7	chr7:50798800-50837200	Weak transcription	HSMMtube	muscle
8	chr7:50799000-50815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:50799000-50817400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:50799000-50823000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:50801600-50814400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:50802000-50814200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:50802200-50815600	Weak transcription	Placenta	Placenta
14	chr7:50802600-50813200	Weak transcription	Hela-S3	cervix
15	chr7:50802600-50824000	Weak transcription	NH-A	brain
16	chr7:50802800-50814400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:50807600-50821800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:50807800-50821800	Weak transcription	Esophagus	oesophagus
19	chr7:50807800-50834800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:50808000-50813600	Weak transcription	Right Ventricle	heart
21	chr7:50808000-50813800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:50808000-50814400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:50808000-50814400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:50808000-50814400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:50808000-50814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:50808000-50814600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:50808000-50815400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:50808000-50815600	Weak transcription	Fetal Lung	lung
29	chr7:50808000-50816000	Weak transcription	HepG2	liver
30	chr7:50808000-50817600	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:50808000-50818400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:50808000-50818600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:50808000-50821200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:50808000-50821600	Weak transcription	Gastric	stomach
35	chr7:50808000-50827200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr7:50808000-50829400	Weak transcription	Small Intestine	intestine
37	chr7:50808000-50832400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:50808000-50835800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr7:50808200-50814600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:50808200-50815000	Weak transcription	Brain Anterior Caudate	brain
41	chr7:50808200-50815200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:50808200-50815400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:50808200-50818800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr7:50808200-50834200	Weak transcription	Brain Angular Gyrus	brain
45	chr7:50808600-50813000	Weak transcription	HUVEC	blood vessel
46	chr7:50808600-50818800	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:50808800-50813800	Weak transcription	A549	lung
48	chr7:50809000-50821400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:50809200-50814600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:50809400-50822200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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