Variant report

Variant	rs61232411
Chromosome Location	chr7:87503003-87503004
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs56208559	0.81[AFR][1000 genomes]
rs56397035	0.81[AFR][1000 genomes]
rs57593184	1.00[AMR][1000 genomes]
rs59075963	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59965458	1.00[AMR][1000 genomes]
rs60521777	1.00[AMR][1000 genomes]
rs61056962	1.00[AMR][1000 genomes]
rs6950539	1.00[AMR][1000 genomes]
rs73706908	0.81[AFR][1000 genomes]
rs73706920	0.81[AFR][1000 genomes]
rs73706928	0.81[AFR][1000 genomes]
rs73706931	1.00[AMR][1000 genomes]
rs73706933	1.00[AMR][1000 genomes]
rs73706934	1.00[AMR][1000 genomes]
rs73706936	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706937	1.00[AMR][1000 genomes]
rs73706938	1.00[AMR][1000 genomes]
rs73706939	1.00[AMR][1000 genomes]
rs73706943	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706945	1.00[AMR][1000 genomes]
rs73706946	1.00[AMR][1000 genomes]
rs73706947	1.00[AMR][1000 genomes]
rs73706949	1.00[AMR][1000 genomes]
rs7801454	0.92[AFR][1000 genomes];1.00[AMR][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	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87481000-87503800	Weak transcription	NH-A	brain
2	chr7:87481200-87504000	Weak transcription	Osteobl	bone
3	chr7:87482200-87503200	Weak transcription	HMEC	breast
4	chr7:87486000-87504400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:87486400-87504800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:87487400-87503800	Weak transcription	HUVEC	blood vessel
7	chr7:87488000-87503400	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:87488200-87504600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:87491400-87503600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:87495800-87503400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:87496000-87504000	Weak transcription	Small Intestine	intestine
12	chr7:87496400-87504600	Weak transcription	Psoas Muscle	Psoas
13	chr7:87497400-87503600	Weak transcription	Fetal Kidney	kidney
14	chr7:87498800-87503800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:87500200-87504400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:87500400-87503600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:87500400-87503800	Weak transcription	Liver	Liver
18	chr7:87500600-87503200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:87500600-87503400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr7:87500600-87503400	Weak transcription	A549	lung
21	chr7:87500600-87503600	Weak transcription	HSMM	muscle
22	chr7:87500600-87503600	Weak transcription	NHLF	lung
23	chr7:87500600-87504000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:87500600-87504400	Weak transcription	Colonic Mucosa	Colon
25	chr7:87500600-87504600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:87500600-87504600	Weak transcription	Lung	lung
27	chr7:87500600-87505000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:87500600-87505000	Weak transcription	Aorta	Aorta
29	chr7:87500600-87505000	Weak transcription	Spleen	Spleen
30	chr7:87500800-87503200	Weak transcription	NHEK	skin
31	chr7:87500800-87503400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:87500800-87503400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:87500800-87503400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:87500800-87503400	Weak transcription	Fetal Thymus	thymus
35	chr7:87500800-87503400	Weak transcription	Thymus	Thymus
36	chr7:87500800-87503800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:87500800-87503800	Weak transcription	Fetal Intestine Small	intestine
38	chr7:87500800-87504200	Weak transcription	Fetal Stomach	stomach
39	chr7:87500800-87504400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr7:87500800-87504400	Weak transcription	Left Ventricle	heart
41	chr7:87500800-87504400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:87500800-87504600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:87500800-87504600	Weak transcription	Esophagus	oesophagus
44	chr7:87500800-87504600	Weak transcription	Gastric	stomach
45	chr7:87500800-87505000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:87500800-87505000	Weak transcription	Ovary	ovary
47	chr7:87501000-87503400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:87501000-87503400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr7:87501400-87504200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:87501600-87504800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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