Variant report

Variant	rs11770627
Chromosome Location	chr7:27498351-27498352
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:27498194-27498489	MCF-7	breast:	n/a	n/a
2	POLR2A	chr7:27498243-27498526	GM12891	blood:	n/a	n/a
3	POLR2A	chr7:27498188-27498495	ProgFib	skin:	n/a	n/a
4	HEY1	chr7:27498266-27498525	K562	blood:	n/a	n/a
5	POLR2A	chr7:27498166-27498555	GM12891	blood:	n/a	n/a
6	POLR2A	chr7:27498332-27498516	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr7:27498193-27498492	MCF-7	breast:	n/a	n/a
8	POLR2A	chr7:27498152-27498559	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:27498139-27498493	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:27498264-27498578	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:27498318-27498508	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr7:27498237-27498485	K562	blood:	n/a	n/a
13	HEY1	chr7:27498261-27498543	HepG2	liver:	n/a	n/a
14	POLR2A	chr7:27498348-27498480	A549	lung:	n/a	n/a
15	POLR2A	chr7:27498030-27498600	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr7:27498197-27498486	MCF-7	breast:	n/a	n/a
17	POLR2A	chr7:27498217-27498565	GM12892	blood:	n/a	n/a
18	POLR2A	chr7:27498242-27498484	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr7:27498238-27498545	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr7:27498343-27498510	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr7:27498236-27498488	HepG2	liver:	n/a	n/a
22	HEY1	chr7:27498245-27498630	K562	blood:	n/a	n/a
23	POLR2A	chr7:27498328-27498501	GM12878	blood:	n/a	n/a
24	TAF1	chr7:27498346-27498527	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr7:27498305-27498521	A549	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27498310-27498360	GM06990	blood:	n/a
2	chr7:27498305-27498355	PFSK-1	brain:	n/a
3	chr7:27498305-27498355	NB4	blood:	n/a
4	chr7:27498310-27498360	ovcar-3	ovarian:	n/a
5	chr7:27498310-27498360	SKMC	muscle:	n/a
6	chr7:27498305-27498355	AG09309	skin:	n/a
7	chr7:27498310-27498360	K562	blood:	n/a
8	chr7:27498310-27498360	NHDF-neo	bronchial:	n/a
9	chr7:27498310-27498360	GM12892	blood:	n/a
10	chr7:27498305-27498355	HCT-116	colon:	n/a
11	chr7:27498310-27498360	PrEC	prostate:	n/a
12	chr7:27498305-27498355	Hela-S3	cervix:	n/a
13	chr7:27498305-27498355	PrEC	prostate:	n/a
14	chr7:27498305-27498355	HEK293	kidney:	embryo
15	chr7:27498305-27498355	MCF-7	breast:	n/a
16	chr7:27498310-27498360	BJ	skin:	n/a
17	chr7:27498305-27498355	GM12878	blood:	n/a
18	chr7:27498305-27498355	HRE	kidney:	n/a
19	chr7:27498310-27498360	PANC-1	pancreas:	n/a
20	chr7:27498305-27498355	AG04450	lung:	fetal
21	chr7:27498305-27498355	AoSMC	blood vessel:	n/a
22	chr7:27498310-27498360	MCF-7	breast:	n/a
23	chr7:27498305-27498355	U87	brain:	n/a
24	chr7:27498305-27498355	Jurkat	blood:	n/a
25	chr7:27498310-27498360	HPAEpiC	pulmonary alveolar:	n/a
26	chr7:27498305-27498355	GM12891	blood:	n/a
27	chr7:27498305-27498355	HRCEpiC	kidney:	n/a
28	chr7:27498310-27498360	HRCEpiC	kidney:	n/a
29	chr7:27498305-27498355	ovcar-3	ovarian:	n/a
30	chr7:27498310-27498360	PFSK-1	brain:	n/a
31	chr7:27498305-27498355	IMR90	lung:	fetal
32	chr7:27498305-27498355	AG04449	skin:	fetal
33	chr7:27498305-27498355	HCPEpiC	choroid plexus:	n/a
34	chr7:27498305-27498355	A549	lung:	n/a
35	chr7:27498310-27498360	Jurkat	blood:	n/a
36	chr7:27498305-27498355	NT2-D1	testis:	n/a
37	chr7:27498305-27498355	HepG2	liver:	n/a
38	chr7:27498305-27498355	NH-A	brain:	n/a
39	chr7:27498310-27498360	SK-N-SH	brain:	n/a
40	chr7:27498305-27498355	SK-N-SH_RA	brain:	n/a
41	chr7:27498310-27498360	HEEpiC	esophagus:	n/a
42	chr7:27498305-27498355	GM12892	blood:	n/a
43	chr7:27498310-27498360	SK-N-SH_RA	brain:	n/a
44	chr7:27498310-27498360	RPTEC	kidney:	n/a
45	chr7:27498305-27498355	SKMC	muscle:	n/a
46	chr7:27498305-27498355	HIPEpiC	eye:	n/a
47	chr7:27498310-27498360	T-47D	breast:	n/a
48	chr7:27498305-27498355	AG10803	skin:	n/a
49	chr7:27498305-27498355	BJ	skin:	n/a
50	chr7:27498310-27498360	NT2-D1	testis:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EVX1-15	chr7:27497304-27498410	ENSG00000248357

No data

Variant related genes	Relation type
PSMC1P2	TF binding region
PSMC1P2	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10226764	0.83[EUR][1000 genomes]
rs11764603	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11768077	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11768908	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11772558	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11773352	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11773710	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62454767	0.86[AMR][1000 genomes]
rs62454768	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62454788	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62454791	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62454792	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62454793	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62454824	0.87[AMR][1000 genomes];0.95[EUR][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	nsv830930	chr7:27395838-27587355	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27494200-27498400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:27494200-27498400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:27494200-27498400	Weak transcription	Adipose Nuclei	Adipose
4	chr7:27494200-27498400	Weak transcription	NHLF	lung
5	chr7:27494200-27498600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:27494400-27498600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:27494400-27498600	Weak transcription	NHDF-Ad	bronchial
8	chr7:27497000-27498400	Weak transcription	Fetal Stomach	stomach
9	chr7:27497200-27498600	Weak transcription	Fetal Lung	lung
10	chr7:27497600-27498600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:27497600-27498600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:27498000-27499800	Enhancers	Osteobl	bone

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