Variant report

Variant	rs12534476
Chromosome Location	chr7:150600339-150600340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12533255	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4725380	0.84[AMR][1000 genomes]
rs4725381	0.86[AMR][1000 genomes]
rs4725974	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2758140	chr7:150538821-150663697	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2759574	chr7:150538821-150663697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS 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	13 gene(s)	inside rSNPs	diseases
8	nsv967441	chr7:150566747-150612420	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv970968	chr7:150589281-150612420	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
11	nsv465212	chr7:150598492-150667210	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv609000	chr7:150598492-150667210	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150594000-150607400	Weak transcription	Right Atrium	heart
2	chr7:150595800-150600600	Weak transcription	HMEC	breast
3	chr7:150596200-150600600	Weak transcription	HUVEC	blood vessel
4	chr7:150597200-150601600	Enhancers	Colonic Mucosa	Colon
5	chr7:150597800-150601200	Enhancers	Rectal Smooth Muscle	rectum
6	chr7:150598000-150601600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:150598000-150601600	Enhancers	Brain Germinal Matrix	brain
8	chr7:150598000-150601600	Enhancers	Brain Hippocampus Middle	brain
9	chr7:150598000-150601600	Enhancers	Colon Smooth Muscle	Colon
10	chr7:150598000-150601600	Enhancers	Stomach Mucosa	stomach
11	chr7:150598000-150601800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr7:150598000-150601800	Enhancers	Fetal Heart	heart
13	chr7:150598000-150602000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:150598200-150600400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:150598400-150601200	Enhancers	Brain Anterior Caudate	brain
16	chr7:150598400-150601400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr7:150598400-150601600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr7:150598400-150601600	Enhancers	Adipose Nuclei	Adipose
19	chr7:150598400-150601600	Enhancers	Fetal Brain Female	brain
20	chr7:150598600-150600600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:150598600-150601800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr7:150598800-150600800	Enhancers	Stomach Smooth Muscle	stomach
23	chr7:150598800-150601200	Enhancers	Fetal Brain Male	brain
24	chr7:150598800-150601600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr7:150598800-150601800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:150598800-150601800	Enhancers	Fetal Muscle Leg	muscle
27	chr7:150599000-150601200	Weak transcription	Fetal Lung	lung
28	chr7:150599400-150600800	Weak transcription	Esophagus	oesophagus
29	chr7:150599400-150600800	Weak transcription	Spleen	Spleen
30	chr7:150599400-150601000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:150599400-150601000	Weak transcription	HSMM	muscle
32	chr7:150599400-150601600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:150599600-150600400	Enhancers	Fetal Muscle Trunk	muscle
34	chr7:150599600-150600600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:150599600-150600600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:150599600-150600800	Enhancers	Hela-S3	cervix
37	chr7:150599600-150601800	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr7:150599800-150603200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:150600000-150600400	Weak transcription	Brain Angular Gyrus	brain
40	chr7:150600000-150601000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:150600000-150601400	Weak transcription	Right Ventricle	heart
42	chr7:150600000-150601800	Enhancers	Duodenum Mucosa	Duodenum
43	chr7:150600200-150600600	Weak transcription	Fetal Stomach	stomach
44	chr7:150600200-150601200	Weak transcription	Brain Substantia Nigra	brain
45	chr7:150600200-150601200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr7:150600200-150601400	Weak transcription	Left Ventricle	heart
47	chr7:150600200-150606400	Weak transcription	Pancreas	Pancrea

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