Variant report

Variant	rs12537583
Chromosome Location	chr7:112091776-112091777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:112089968-112092839	IMR90	lung:	n/a	n/a
2	POLR2A	chr7:112089448-112092907	HepG2	liver:	n/a	n/a
3	MXI1	chr7:112091645-112091789	K562	blood:	n/a	n/a
4	SIN3AK20	chr7:112089146-112091861	MCF-7	breast:	n/a	n/a
5	CHD1	chr7:112090507-112093089	H1-hESC	embryonic stem cell:	n/a	chr7:112091005-112091015
6	REST	chr7:112089562-112092667	H1-neurons	neurons:	n/a	chr7:112092117-112092137 chr7:112091534-112091554 chr7:112090684-112090702 chr7:112091540-112091554
7	RELA	chr7:112089850-112091839	GM12891	blood:	n/a	n/a
8	MYC	chr7:112091718-112092043	MCF10A-Er-Src	breast:	n/a	n/a
9	MAFK	chr7:112091755-112091936	K562	blood:	n/a	n/a
10	POLR2A	chr7:112089862-112091874	PFSK-1	brain:	n/a	n/a
11	TBL1XR1	chr7:112089892-112092009	K562	blood:	n/a	n/a
12	MXI1	chr7:112089314-112092845	IMR90	lung:	n/a	chr7:112091383-112091392 chr7:112090466-112090475
13	MTA3	chr7:112089739-112091791	GM12878	blood:	n/a	n/a
14	ZNF384	chr7:112091652-112092571	K562	blood:	n/a	n/a
15	NR2F2	chr7:112089740-112093055	K562	blood:	n/a	chr7:112092790-112092805
16	POLR2A	chr7:112089647-112092731	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr7:112089828-112092544	PBDE	blood:	n/a	n/a
18	CREB1	chr7:112089932-112091782	HepG2	liver:	n/a	n/a
19	ZNF263	chr7:112089981-112092890	HEK293-T-REx	kidney:	n/a	chr7:112090268-112090277 chr7:112092703-112092712
20	GATA1	chr7:112089986-112092410	PBDE	blood:	n/a	chr7:112090961-112090969
21	SMARCB1	chr7:112089761-112091998	Hela-S3	cervix:	n/a	chr7:112090912-112090921 chr7:112090975-112090984
22	PML	chr7:112090041-112091818	K562	blood:	n/a	n/a
23	POLR2A	chr7:112089894-112091784	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:112090070-112093219	K562	blood:	n/a	n/a
25	POLR2A	chr7:112089306-112092632	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr7:112089850-112091801	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr7:112089989-112091904	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr7:112090230-112093056	A549	lung:	n/a	n/a
29	TAL1	chr7:112090226-112092447	K562	blood:	n/a	n/a
30	POLR2A	chr7:112090032-112091968	GM12878	blood:	n/a	n/a
31	POLR2A	chr7:112089891-112092644	HepG2	liver:	n/a	n/a
32	ZMIZ1	chr7:112090076-112091835	K562	blood:	n/a	n/a
33	POLR2A	chr7:112089774-112093074	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:111977606..111981678-chr7:112089523..112092927,4	K562	blood:
2	chr7:112088993..112091963-chr7:112126130..112127853,2	K562	blood:
3	chr7:112088943..112098465-chr7:112111106..112127214,31	K562	blood:
4	chr7:108208069..108211100-chr7:112089167..112092388,3	K562	blood:
5	chr5:17217250..17218193-chr7:112091218..112092135,2	Hela-S3	cervix:
6	chr7:112089471..112094125-chr7:112120459..112123941,5	MCF-7	breast:
7	chr7:112088811..112094041-chr7:112100770..112110657,18	MCF-7	breast:
8	chr7:112088410..112092985-chr7:112428999..112431698,4	K562	blood:
9	chr7:112047884..112050486-chr7:112089235..112093334,4	MCF-7	breast:
10	chr7:112089375..112094700-chr7:112096975..112100569,9	MCF-7	breast:
11	chr7:112048671..112054554-chr7:112088966..112092653,8	K562	blood:
12	chr7:111844189..111846735-chr7:112088922..112092289,7	K562	blood:
13	chr7:112059129..112067568-chr7:112088387..112093703,18	K562	blood:
14	chr7:112088410..112092033-chr7:112123451..112127009,4	MCF-7	breast:
15	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:
16	chr1:28695841..28696739-chr7:112090908..112091784,2	Hela-S3	cervix:
17	chr7:112090464..112092274-chr7:112758271..112759774,2	K562	blood:
18	chr7:112058693..112068099-chr7:112086961..112092875,22	MCF-7	breast:
19	chr7:112089239..112091876-chr7:112428390..112433191,6	K562	blood:
20	chr7:112089330..112091829-chr7:112756736..112758677,2	K562	blood:
21	chr7:112060645..112065287-chr7:112088150..112093147,11	K562	blood:
22	chr7:112070004..112076448-chr7:112089182..112092278,11	K562	blood:
23	chr11:62608977..62609640-chr7:112091293..112092073,2	Hela-S3	cervix:
24	chr7:111986864..111991026-chr7:112090313..112092457,3	MCF-7	breast:
25	chr7:111379760..111381665-chr7:112090051..112092325,2	MCF-7	breast:
26	chr7:108209600..108213665-chr7:112090307..112092525,3	K562	blood:

No data

Variant related genes	Relation type
IFRD1	TF binding region
ENSG00000181016	Chromatin interaction
ENSG00000226851	Chromatin interaction
ENSG00000128512	Chromatin interaction
ENSG00000006652	Chromatin interaction
ENSG00000135241	Chromatin interaction
ENSG00000176788	Chromatin interaction
ENSG00000204138	Chromatin interaction
ENSG00000177683	Chromatin interaction
ENSG00000146802	Chromatin interaction
ENSG00000214194	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000198839	Chromatin interaction
ENSG00000128590	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11768354	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17403123	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35126987	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60461435	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67523617	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6944024	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv1801262	chr7:112071795-112104179	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112089200-112092600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:112089400-112092200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:112089600-112091800	Active TSS	Fetal Lung	lung
4	chr7:112089600-112091800	Active TSS	Stomach Mucosa	stomach
5	chr7:112089600-112092400	Active TSS	Fetal Intestine Small	intestine
6	chr7:112089600-112092600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr7:112089600-112092800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr7:112089600-112092800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:112089600-112092800	Active TSS	Fetal Kidney	kidney
10	chr7:112089600-112093000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:112089600-112093000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:112089600-112093400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:112089600-112094000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr7:112089600-112094200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr7:112089600-112094200	Active TSS	Psoas Muscle	Psoas
16	chr7:112089800-112091800	Active TSS	Placenta	Placenta
17	chr7:112089800-112092200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:112089800-112092200	Active TSS	Brain Substantia Nigra	brain
19	chr7:112089800-112092200	Active TSS	Fetal Stomach	stomach
20	chr7:112089800-112092600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:112089800-112092600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:112089800-112092600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:112089800-112092600	Active TSS	Brain Cingulate Gyrus	brain
24	chr7:112089800-112092600	Active TSS	Esophagus	oesophagus
25	chr7:112089800-112092600	Active TSS	Lung	lung
26	chr7:112089800-112092800	Active TSS	Ovary	ovary
27	chr7:112089800-112092800	Active TSS	Pancreas	Pancrea
28	chr7:112089800-112093000	Active TSS	H1 Cell Line	embryonic stem cell
29	chr7:112089800-112093000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:112089800-112093000	Active TSS	Aorta	Aorta
31	chr7:112089800-112093000	Active TSS	Colon Smooth Muscle	Colon
32	chr7:112089800-112093000	Active TSS	Left Ventricle	heart
33	chr7:112089800-112093200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:112089800-112093400	Active TSS	A549	lung
35	chr7:112089800-112093600	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr7:112089800-112093600	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr7:112089800-112094400	Active TSS	Right Ventricle	heart
38	chr7:112089800-112094800	Active TSS	GM12878-XiMat	blood
39	chr7:112090000-112091800	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr7:112090000-112091800	Active TSS	Brain Hippocampus Middle	brain
41	chr7:112090000-112091800	Active TSS	Fetal Brain Female	brain
42	chr7:112090000-112091800	Active TSS	Rectal Smooth Muscle	rectum
43	chr7:112090000-112091800	Active TSS	Small Intestine	intestine
44	chr7:112090000-112091800	Active TSS	Thymus	Thymus
45	chr7:112090000-112092000	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr7:112090000-112092000	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr7:112090000-112092000	Active TSS	Fetal Brain Male	brain
48	chr7:112090000-112092000	Active TSS	Fetal Heart	heart
49	chr7:112090000-112092200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:112090000-112092200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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