Variant report

Variant	rs7304564
Chromosome Location	chr12:105439562-105439563
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10861325	0.86[AFR][1000 genomes]
rs11112333	0.97[EUR][1000 genomes]
rs11112334	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12580282	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105397400-105443200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:105409200-105446800	Weak transcription	Left Ventricle	heart
3	chr12:105409400-105465200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:105410800-105446400	Weak transcription	K562	blood
5	chr12:105412400-105440400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:105413000-105441800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:105413000-105445000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:105413000-105476800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:105413200-105457800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:105414800-105447200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:105414800-105454000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:105415000-105440400	Weak transcription	Gastric	stomach
13	chr12:105418600-105441000	Weak transcription	Pancreas	Pancrea
14	chr12:105420000-105477000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:105420200-105441000	Weak transcription	Fetal Brain Male	brain
16	chr12:105420400-105440600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:105420400-105448600	Weak transcription	Ovary	ovary
18	chr12:105420600-105442000	Weak transcription	Fetal Lung	lung
19	chr12:105420600-105442000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:105420600-105447000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:105420800-105442000	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:105422600-105442800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:105423200-105459400	Weak transcription	Lung	lung
24	chr12:105423600-105440400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:105425200-105440800	Weak transcription	A549	lung
26	chr12:105427000-105440400	Weak transcription	Aorta	Aorta
27	chr12:105429600-105440800	Weak transcription	Fetal Brain Female	brain
28	chr12:105431000-105440400	Weak transcription	NH-A	brain
29	chr12:105431000-105446800	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:105431400-105440200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:105431400-105440600	Weak transcription	Adipose Nuclei	Adipose
32	chr12:105431400-105445000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:105431400-105461600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:105431800-105454800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:105432000-105443200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:105432200-105454600	Weak transcription	NHEK	skin
37	chr12:105432600-105441200	Weak transcription	NHDF-Ad	bronchial
38	chr12:105434000-105453000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:105434400-105440400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:105435200-105443000	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:105435200-105453600	Weak transcription	Fetal Stomach	stomach
42	chr12:105435400-105441200	Weak transcription	Brain Angular Gyrus	brain
43	chr12:105435400-105445000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:105435400-105445000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:105435600-105444800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr12:105435600-105446200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:105435600-105467400	Weak transcription	Brain Substantia Nigra	brain
48	chr12:105435800-105440400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:105435800-105446600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:105436200-105441800	Weak transcription	NHLF	lung

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