Variant report

Variant	rs572087254
Chromosome Location	chr7:129250556-129250557
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:129250539-129251538	K562	blood:	n/a	n/a
2	CHD1	chr7:129250526-129251642	H1-hESC	embryonic stem cell:	n/a	n/a
3	HEY1	chr7:129250446-129252125	K562	blood:	n/a	chr7:129251475-129251490
4	RAD21	chr7:129249773-129253447	SK-N-SH	brain:	n/a	chr7:129251912-129251924
5	CHD1	chr7:129250339-129253090	IMR90	lung:	n/a	chr7:129252102-129252112
6	POLR2A	chr7:129248798-129252081	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr7:129250391-129250794	GM12892	blood:	n/a	n/a
8	POLR2A	chr7:129250268-129251745	GM12878	blood:	n/a	n/a
9	MAX	chr7:129250508-129252797	K562	blood:	n/a	chr7:129252330-129252340
10	POLR2A	chr7:129250534-129252028	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:129250449-129252813	K562	blood:	n/a	n/a
12	NRF1	chr7:129250436-129252294	SK-N-SH	brain:	n/a	chr7:129251705-129251716
13	POLR2A	chr7:129250476-129252083	MCF10A-Er-Src	breast:	n/a	n/a
14	TEAD4	chr7:129250426-129252068	K562	blood:	n/a	n/a
15	CTCF	chr7:129250530-129253338	SK-N-SH	brain:	n/a	chr7:129250906-129250919 chr7:129251949-129251962
16	NR2F2	chr7:129250515-129251755	K562	blood:	n/a	n/a
17	POLR2A	chr7:129250318-129252111	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr7:129250474-129251742	GM12892	blood:	n/a	n/a
19	GTF3C2	chr7:129250465-129251168	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr7:129250514-129252020	MCF10A-Er-Src	breast:	n/a	n/a
21	CBX3	chr7:129250405-129251710	K562	blood:	n/a	n/a
22	POLR2A	chr7:129250520-129252809	K562	blood:	n/a	n/a
23	JUN	chr7:129248317-129253489	K562	blood:	n/a	chr7:129253092-129253104 chr7:129249696-129249709 chr7:129253258-129253267 chr7:129249723-129249736
24	POLR2A	chr7:129250262-129251946	GM12891	blood:	n/a	n/a
25	POLR2A	chr7:129250536-129252007	IMR90	lung:	n/a	n/a
26	POLR2A	chr7:129250124-129251906	GM12878	blood:	n/a	n/a
27	ZC3H11A	chr7:129250488-129251688	K562	blood:	n/a	n/a
28	MTA3	chr7:129250457-129251749	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128861878..128864970-chr7:129248280..129251155,3	K562	blood:
2	chr7:129249547..129251363-chr7:129284071..129286365,2	K562	blood:
3	chr7:129141127..129144491-chr7:129250183..129252967,6	MCF-7	breast:
4	chr7:129250084..129252552-chr7:129268663..129271453,3	MCF-7	breast:
5	chr7:129139279..129144298-chr7:129248057..129253593,12	MCF-7	breast:
6	chr7:129212889..129217763-chr7:129247804..129250930,5	K562	blood:
7	chr7:129247164..129250870-chr7:129275593..129280578,4	K562	blood:
8	chr7:128947155..128949553-chr7:129248473..129251078,2	K562	blood:
9	chr7:129122920..129124600-chr7:129249511..129251392,2	MCF-7	breast:
10	chr7:129174530..129176611-chr7:129248438..129250911,2	K562	blood:
11	chr7:129131493..129133001-chr7:129248481..129251293,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2H-2	chr7:129242678-129251482	NONHSAT123298
2	lnc-UBE2H-2	chr7:129244389-129251471	ENSG00000273329.1

No data

Variant related genes	Relation type
NRF1	TF binding region
ENSG00000240204	Chromatin interaction
ENSG00000106459	Chromatin interaction
ENSG00000199846	Chromatin interaction
ENSG00000158467	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	esv3354852	chr7:129250541-129253089	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129245200-129250600	Weak transcription	Esophagus	oesophagus
2	chr7:129245400-129250600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:129245600-129250600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:129245800-129250800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:129246200-129250600	Weak transcription	Aorta	Aorta
6	chr7:129246200-129250600	Weak transcription	Left Ventricle	heart
7	chr7:129247600-129250600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:129249000-129250600	Enhancers	Pancreas	Pancrea
9	chr7:129249200-129250800	Weak transcription	Gastric	stomach
10	chr7:129249400-129250800	Enhancers	Spleen	Spleen
11	chr7:129249600-129250600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:129249600-129250600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr7:129249600-129250600	Enhancers	Lung	lung
14	chr7:129249600-129250600	Enhancers	Psoas Muscle	Psoas
15	chr7:129249800-129250600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:129249800-129250600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:129249800-129250600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:129249800-129250600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr7:129250000-129250600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:129250000-129250600	Enhancers	Primary B cells from cord blood	blood
21	chr7:129250000-129250600	Enhancers	Primary B cells from peripheral blood	blood
22	chr7:129250000-129250600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:129250000-129250600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:129250000-129250600	Weak transcription	Ovary	ovary
25	chr7:129250000-129250800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:129250000-129250800	Enhancers	Small Intestine	intestine
27	chr7:129250000-129251000	Flanking Active TSS	Dnd41	blood
28	chr7:129250000-129253000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:129250000-129253400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:129250200-129250600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr7:129250200-129250600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr7:129250200-129250600	Enhancers	Fetal Heart	heart
33	chr7:129250200-129250600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr7:129250200-129250600	Enhancers	Right Atrium	heart
35	chr7:129250200-129250600	Flanking Active TSS	HepG2	liver
36	chr7:129250200-129250800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:129250200-129250800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:129250200-129250800	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr7:129250200-129250800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr7:129250200-129250800	Flanking Active TSS	Hela-S3	cervix
41	chr7:129250200-129250800	Flanking Active TSS	HMEC	breast
42	chr7:129250200-129251000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:129250200-129251000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:129250200-129251000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:129250200-129251000	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr7:129250200-129251000	Flanking Active TSS	Fetal Brain Male	brain
47	chr7:129250200-129251000	Flanking Active TSS	Fetal Brain Female	brain
48	chr7:129250200-129251000	Flanking Active TSS	Thymus	Thymus
49	chr7:129250200-129251200	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr7:129250200-129251200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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