Variant report

Variant	rs7306670
Chromosome Location	chr12:123947750-123947751
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123941560..123944210-chr12:123946389..123948077,2	K562	blood:
2	chr12:123947470..123950375-chr12:124015636..124018854,3	K562	blood:

Variant related genes	Relation type
ENSG00000188026	Chromatin interaction
ENSG00000184209	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11507739	0.90[EUR][1000 genomes]
rs11507740	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13303080	0.88[EUR][1000 genomes]
rs13303107	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13303167	0.93[EUR][1000 genomes]
rs13303200	0.88[EUR][1000 genomes]
rs13303266	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs28413969	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28483351	0.89[EUR][1000 genomes]
rs28497891	0.87[EUR][1000 genomes]
rs28557411	0.87[EUR][1000 genomes]
rs28667043	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34047494	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34351395	0.88[EUR][1000 genomes]
rs34762274	0.88[EUR][1000 genomes]
rs35090528	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35157218	0.93[EUR][1000 genomes]
rs35370271	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35970945	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36084544	0.88[EUR][1000 genomes]
rs4047517	0.94[EUR][1000 genomes]
rs56412477	0.94[EUR][1000 genomes]
rs56860279	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6606748	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71456799	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7297035	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7300562	0.93[EUR][1000 genomes]
rs7315901	0.95[EUR][1000 genomes]
rs7960816	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7975122	0.96[EUR][1000 genomes]
rs7978323	0.95[EUR][1000 genomes]
rs9330649	0.84[EUR][1000 genomes]
rs9697459	0.87[EUR][1000 genomes]
rs9697581	0.88[EUR][1000 genomes]
rs9697628	0.87[EUR][1000 genomes]
rs9697735	0.87[EUR][1000 genomes]
rs9777736	0.80[EUR][1000 genomes]
rs9778001	0.89[EUR][1000 genomes]
rs9803116	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123943600-123949200	Weak transcription	Ovary	ovary
2	chr12:123943600-123955800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:123943800-123947800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:123943800-123949000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:123943800-123949000	Weak transcription	Osteobl	bone
6	chr12:123943800-123949200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:123943800-123949200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:123943800-123949200	Weak transcription	Adipose Nuclei	Adipose
9	chr12:123943800-123949200	Weak transcription	Fetal Heart	heart
10	chr12:123943800-123949200	Weak transcription	Fetal Kidney	kidney
11	chr12:123943800-123949200	Weak transcription	Gastric	stomach
12	chr12:123943800-123949200	Weak transcription	NH-A	brain
13	chr12:123943800-123949400	Weak transcription	Brain Anterior Caudate	brain
14	chr12:123943800-123949400	Weak transcription	HSMM	muscle
15	chr12:123943800-123949600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:123943800-123949600	Weak transcription	Aorta	Aorta
17	chr12:123943800-123949600	Weak transcription	Brain Angular Gyrus	brain
18	chr12:123943800-123949600	Weak transcription	Esophagus	oesophagus
19	chr12:123943800-123949800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:123943800-123949800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:123943800-123949800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:123943800-123949800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:123943800-123949800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:123943800-123949800	Weak transcription	Left Ventricle	heart
25	chr12:123943800-123949800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:123943800-123949800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:123943800-123949800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:123943800-123949800	Weak transcription	Right Ventricle	heart
29	chr12:123943800-123956000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:123943800-123956400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:123943800-123958800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:123943800-123959600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:123943800-123959600	Weak transcription	Psoas Muscle	Psoas
34	chr12:123943800-123961200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:123944000-123948200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:123944000-123949000	Weak transcription	Placenta	Placenta
37	chr12:123944000-123949200	Weak transcription	Fetal Brain Female	brain
38	chr12:123944000-123949200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:123944000-123949200	Weak transcription	NHLF	lung
40	chr12:123944000-123949600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:123944000-123949800	Weak transcription	HMEC	breast
42	chr12:123944000-123950200	Weak transcription	HSMMtube	muscle
43	chr12:123944200-123949000	Weak transcription	Fetal Intestine Large	intestine
44	chr12:123944200-123949600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:123944200-123949600	Weak transcription	Colonic Mucosa	Colon
46	chr12:123944200-123949800	Weak transcription	Lung	lung
47	chr12:123944200-123949800	Weak transcription	Pancreas	Pancrea
48	chr12:123944400-123949200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:123944400-123949200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:123944400-123949200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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