Variant report

Variant	rs7516924
Chromosome Location	chr1:211819273-211819274
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211656368..211658461-chr1:211818304..211819839,2	K562	blood:
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: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11119776	0.85[ASN][1000 genomes]
rs11119784	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11119785	0.84[AMR][1000 genomes]
rs11576130	0.81[EUR][1000 genomes]
rs12086390	0.85[ASN][1000 genomes]
rs12724388	0.81[ASN][1000 genomes]
rs12736496	0.81[ASN][1000 genomes]
rs34451435	0.82[AMR][1000 genomes]
rs34603396	0.95[ASN][1000 genomes]
rs56094815	0.87[AMR][1000 genomes]
rs61851769	0.90[ASN][1000 genomes]
rs6540695	0.81[ASN][1000 genomes]
rs6540697	0.81[EUR][1000 genomes]
rs6660850	0.81[EUR][1000 genomes]
rs6664930	0.81[ASN][1000 genomes]
rs6666442	0.81[ASN][1000 genomes]
rs6673372	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6675796	0.81[EUR][1000 genomes]
rs749964	0.81[ASN][1000 genomes]
rs7521959	0.81[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:39 , 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	chr1:211816200-211819400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:211817200-211821200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:211817400-211827000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:211817400-211827400	Weak transcription	Fetal Heart	heart
9	chr1:211817600-211819600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:211817600-211819600	Weak transcription	HUVEC	blood vessel
11	chr1:211817600-211821000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:211817600-211821000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:211817600-211821000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:211817600-211821200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:211817600-211821200	Weak transcription	Brain Anterior Caudate	brain
16	chr1:211817600-211821200	Weak transcription	Colonic Mucosa	Colon
17	chr1:211817600-211821200	Weak transcription	Esophagus	oesophagus
18	chr1:211817600-211821200	Weak transcription	Placenta	Placenta
19	chr1:211817600-211821200	Weak transcription	Pancreas	Pancrea
20	chr1:211817600-211821200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:211817600-211821200	Weak transcription	Stomach Mucosa	stomach
22	chr1:211817600-211821800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:211817600-211823000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:211817600-211823200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:211817600-211826800	Weak transcription	Gastric	stomach
26	chr1:211817600-211827000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:211817600-211830600	Weak transcription	Right Atrium	heart
28	chr1:211817800-211820200	Weak transcription	A549	lung
29	chr1:211817800-211821200	Weak transcription	HMEC	breast
30	chr1:211817800-211821600	Weak transcription	K562	blood
31	chr1:211818000-211821400	Weak transcription	Fetal Thymus	thymus
32	chr1:211818400-211820800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:211818400-211821200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:211818400-211828400	Weak transcription	Adipose Nuclei	Adipose
35	chr1:211818600-211819600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:211818600-211821200	Enhancers	Hela-S3	cervix
37	chr1:211818600-211823000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:211818800-211820800	Weak transcription	HepG2	liver
39	chr1:211818800-211821200	Weak transcription	Liver	Liver

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