Variant report

Variant	rs11507747
Chromosome Location	chr12:123973715-123973716
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	chr12:123966913..123969860-chr12:123971684..123973718,2	K562	blood:
2	chr12:123971133..123973721-chr12:123974833..123977007,2	K562	blood:

Variant related genes	Relation type
ENSG00000188026	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11507746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28791561	1.00[EUR][1000 genomes]
rs56343236	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56399346	1.00[EUR][1000 genomes]
rs56798027	1.00[EUR][1000 genomes]
rs57354242	1.00[EUR][1000 genomes]
rs59188352	1.00[EUR][1000 genomes]
rs61509618	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412256	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412279	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412281	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9697674	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9778175	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv1037260	chr12:123956749-124023069	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123944600-123995600	Weak transcription	Hela-S3	cervix
2	chr12:123944600-124012200	Strong transcription	Fetal Stomach	stomach
3	chr12:123949000-123984400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:123950800-124007600	Weak transcription	Colonic Mucosa	Colon
5	chr12:123956800-123993400	Weak transcription	HMEC	breast
6	chr12:123956800-123995400	Weak transcription	Fetal Brain Male	brain
7	chr12:123957400-123982400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:123957400-123995400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:123957400-123995400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:123957600-123995400	Weak transcription	Pancreas	Pancrea
11	chr12:123957600-124003800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:123957800-123982600	Weak transcription	A549	lung
13	chr12:123960000-123995400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:123961600-123979200	Weak transcription	NHEK	skin
15	chr12:123961600-123995800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:123963000-123981200	Weak transcription	Esophagus	oesophagus
17	chr12:123964000-123978600	Weak transcription	Right Atrium	heart
18	chr12:123964200-123978200	Weak transcription	Psoas Muscle	Psoas
19	chr12:123964200-123981200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:123964200-123981200	Weak transcription	Spleen	Spleen
21	chr12:123964200-123981400	Weak transcription	NHDF-Ad	bronchial
22	chr12:123964400-123976800	Weak transcription	Fetal Heart	heart
23	chr12:123964400-123981200	Weak transcription	Gastric	stomach
24	chr12:123965200-123981000	Weak transcription	Fetal Intestine Large	intestine
25	chr12:123965400-123981400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr12:123965400-123983000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:123965600-123978200	Weak transcription	Aorta	Aorta
28	chr12:123965600-123979400	Weak transcription	HSMM	muscle
29	chr12:123965600-123981200	Weak transcription	NHLF	lung
30	chr12:123965600-123982600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:123966200-123978800	Weak transcription	Brain Angular Gyrus	brain
32	chr12:123968400-123978600	Weak transcription	Brain Substantia Nigra	brain
33	chr12:123968600-123974200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:123968800-123978800	Weak transcription	Lung	lung
35	chr12:123968800-123981200	Weak transcription	Liver	Liver
36	chr12:123968800-123995400	Weak transcription	NH-A	brain
37	chr12:123969000-123979000	Weak transcription	Adipose Nuclei	Adipose
38	chr12:123969000-123993800	Weak transcription	HUVEC	blood vessel
39	chr12:123969200-123978000	Weak transcription	HepG2	liver
40	chr12:123969400-123984600	Weak transcription	Thymus	Thymus
41	chr12:123969600-123979000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:123969800-123980800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:123969800-123982600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:123970000-123976800	Weak transcription	Placenta	Placenta
45	chr12:123970000-123981000	Weak transcription	Colon Smooth Muscle	Colon
46	chr12:123970000-124016400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:123970200-123978600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:123970400-123974200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:123970400-123976800	Weak transcription	Brain Anterior Caudate	brain
50	chr12:123970400-123977000	Weak transcription	Brain Cingulate Gyrus	brain

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