Variant report

Variant	rs12744873
Chromosome Location	chr1:211818110-211818111
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211816612..211818942-chr1:211819387..211821012,2	MCF-7	breast:
2	chr1:211750794..211754252-chr1:211815868..211819773,4	MCF-7	breast:
3	chr1:211749200..211754595-chr1:211816014..211824648,8	K562	blood:

Variant related genes	Relation type
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10158305	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10158307	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10158309	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10158749	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10158790	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10158874	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10159253	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11119783	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11119785	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11119786	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11576789	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11577255	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12142250	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12734494	0.83[ASN][1000 genomes]
rs12758005	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1373293	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34451435	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35531215	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6669878	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6693364	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7551699	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010919	chr1:211804252-211823073	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211811400-211829600	Enhancers	Fetal Intestine Small	intestine
2	chr1:211811600-211828200	Enhancers	Fetal Intestine Large	intestine
3	chr1:211813600-211821600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:211813800-211822600	Weak transcription	NHDF-Ad	bronchial
5	chr1:211814600-211818600	Flanking Active TSS	Hela-S3	cervix
6	chr1:211816000-211818400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:211816200-211818600	Enhancers	Duodenum Mucosa	Duodenum
8	chr1:211816200-211819400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:211816600-211818400	Enhancers	Adipose Nuclei	Adipose
10	chr1:211816600-211818800	Enhancers	Liver	Liver
11	chr1:211817200-211821200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:211817400-211818400	Weak transcription	Fetal Brain Female	brain
13	chr1:211817400-211818400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr1:211817400-211827000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:211817400-211827400	Weak transcription	Fetal Heart	heart
16	chr1:211817600-211818600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:211817600-211818800	Weak transcription	Osteobl	bone
18	chr1:211817600-211819600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:211817600-211819600	Weak transcription	HUVEC	blood vessel
20	chr1:211817600-211821000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:211817600-211821000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:211817600-211821000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:211817600-211821200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:211817600-211821200	Weak transcription	Brain Anterior Caudate	brain
25	chr1:211817600-211821200	Weak transcription	Colonic Mucosa	Colon
26	chr1:211817600-211821200	Weak transcription	Esophagus	oesophagus
27	chr1:211817600-211821200	Weak transcription	Placenta	Placenta
28	chr1:211817600-211821200	Weak transcription	Pancreas	Pancrea
29	chr1:211817600-211821200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:211817600-211821200	Weak transcription	Stomach Mucosa	stomach
31	chr1:211817600-211821800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:211817600-211823000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:211817600-211823200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:211817600-211826800	Weak transcription	Gastric	stomach
35	chr1:211817600-211827000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:211817600-211830600	Weak transcription	Right Atrium	heart
37	chr1:211817800-211818400	Weak transcription	Right Ventricle	heart
38	chr1:211817800-211818800	Enhancers	HepG2	liver
39	chr1:211817800-211820200	Weak transcription	A549	lung
40	chr1:211817800-211821200	Weak transcription	HMEC	breast
41	chr1:211817800-211821600	Weak transcription	K562	blood
42	chr1:211818000-211821400	Weak transcription	Fetal Thymus	thymus

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