Variant report

Variant	rs745496
Chromosome Location	chr1:211827058-211827059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:211826419-211827829	Hela-S3	cervix:	n/a	chr1:211826833-211826844
2	SMC3	chr1:211826693-211827677	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr1:211826468-211827193	HCT-116	colon:	n/a	chr1:211826833-211826844
4	POLR2A	chr1:211826517-211829499	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr1:211826664-211827598	A549	lung:	n/a	chr1:211826833-211826844
6	POLR2A	chr1:211826762-211827438	Hela-S3	cervix:	n/a	n/a
7	RCOR1	chr1:211826524-211827511	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr1:211826487-211827191	HCT-116	colon:	n/a	chr1:211826833-211826844
9	ZNF143	chr1:211826883-211827608	Hela-S3	cervix:	n/a	n/a
10	TCF7L2	chr1:211826525-211827155	Hela-S3	cervix:	n/a	n/a
11	TEAD4	chr1:211826685-211827098	A549	lung:	n/a	n/a
12	RAD21	chr1:211826452-211827770	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr1:211826648-211827076	A549	lung:	n/a	chr1:211826833-211826844
14	TEAD4	chr1:211826547-211827084	HepG2	liver:	n/a	n/a
15	CEBPB	chr1:211826538-211827143	A549	lung:	n/a	chr1:211826833-211826844
16	GTF3C2	chr1:211826810-211827163	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:211750915..211755112-chr1:211826013..211829699,5	K562	blood:
2	chr1:211750437..211753125-chr1:211823737..211827672,4	MCF-7	breast:
3	chr1:211750060..211753695-chr1:211824093..211827463,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222080	TF binding region
ENSG00000170385	Chromatin interaction

rs_ID	r²[population]
rs1123527	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11799776	1.00[ASN][1000 genomes]
rs11800719	0.87[AFR][1000 genomes]
rs11805128	0.84[AFR][1000 genomes]
rs12742934	1.00[ASN][1000 genomes]
rs1867376	1.00[ASN][1000 genomes]
rs2027225	1.00[ASN][1000 genomes]
rs34550869	1.00[ASN][1000 genomes]
rs55960543	1.00[ASN][1000 genomes]
rs56320548	1.00[ASN][1000 genomes]
rs6684175	1.00[ASN][1000 genomes]
rs6694934	1.00[ASN][1000 genomes]
rs726986	1.00[ASN][1000 genomes]
rs7548952	1.00[ASN][1000 genomes]
rs9429874	1.00[ASN][1000 genomes]
rs9430072	1.00[ASN][1000 genomes]
rs9430074	1.00[ASN][1000 genomes]
rs9430077	1.00[ASN][1000 genomes]

Chromatin state (count:41 , 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	chr1:211817400-211827400	Weak transcription	Fetal Heart	heart
4	chr1:211817600-211830600	Weak transcription	Right Atrium	heart
5	chr1:211818400-211828400	Weak transcription	Adipose Nuclei	Adipose
6	chr1:211821800-211828400	Weak transcription	Colonic Mucosa	Colon
7	chr1:211822200-211828400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:211822800-211827600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:211822800-211828200	Weak transcription	Liver	Liver
10	chr1:211822800-211828200	Weak transcription	Pancreas	Pancrea
11	chr1:211824000-211828200	Weak transcription	Stomach Mucosa	stomach
12	chr1:211824400-211828000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:211825800-211828800	Enhancers	Placenta	Placenta
14	chr1:211826400-211827200	Enhancers	HepG2	liver
15	chr1:211826400-211827400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:211826400-211828400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:211826400-211828600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:211826400-211828600	Flanking Active TSS	Hela-S3	cervix
19	chr1:211826800-211827600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:211826800-211828000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:211826800-211828200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:211826800-211828600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:211826800-211828600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:211826800-211828800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:211826800-211829600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:211827000-211827200	Flanking Active TSS	HUVEC	blood vessel
27	chr1:211827000-211827600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr1:211827000-211827600	Enhancers	NHEK	skin
29	chr1:211827000-211827800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:211827000-211827800	Enhancers	NHLF	lung
31	chr1:211827000-211827800	Enhancers	Osteobl	bone
32	chr1:211827000-211828200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:211827000-211828400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:211827000-211828600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:211827000-211828600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:211827000-211828600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:211827000-211828600	Enhancers	HMEC	breast
38	chr1:211827000-211828600	Enhancers	NHDF-Ad	bronchial
39	chr1:211827000-211828800	Enhancers	NH-A	brain
40	chr1:211827000-211829000	Enhancers	K562	blood
41	chr1:211827000-211829200	Enhancers	A549	lung

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