Variant report

Variant	rs11767283
Chromosome Location	chr7:121947456-121947457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:121947182-121947902	H1-neurons	neurons:	n/a	n/a
2	SUZ12	chr7:121939309-121947723	NT2-D1	testis:	n/a	n/a
3	TBP	chr7:121945798-121947603	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF12	chr7:121947363-121947555	H1-hESC	embryonic stem cell:	n/a	n/a
5	GTF2F1	chr7:121947362-121947565	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTBP2	chr7:121945254-121947668	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3AK20	chr7:121947172-121947631	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZNF143	chr7:121946634-121947625	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr7:121947214-121948014	H1-neurons	neurons:	n/a	n/a
10	RAD21	chr7:121945691-121947615	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr7:121947281-121947549	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3A	chr7:121943697-121947785	H1-hESC	embryonic stem cell:	n/a	chr7:121946328-121946337
13	CHD1	chr7:121946319-121947842	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr7:121941717-121947807	SK-N-MC	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:121947425-121947475	Jurkat	blood:	n/a
2	chr7:121947425-121947475	SK-N-SH	brain:	n/a
3	chr7:121947425-121947475	Hela-S3	cervix:	n/a
4	chr7:121947425-121947475	Hepatocyte	liver:	n/a
5	chr7:121947425-121947475	SKMC	muscle:	n/a
6	chr7:121947425-121947475	AoSMC	blood vessel:	n/a
7	chr7:121947425-121947475	T-47D	breast:	n/a
8	chr7:121947425-121947475	H1-hESC	embryonic stem cell:	embryo
9	chr7:121947425-121947475	GM12878	blood:	n/a
10	chr7:121947425-121947475	ovcar-3	ovarian:	n/a
11	chr7:121947425-121947475	AG09309	skin:	n/a
12	chr7:121947425-121947475	HNPCEpiC	eye:	n/a
13	chr7:121947425-121947475	A549	lung:	n/a
14	chr7:121947425-121947475	AG09319	gingival:	n/a
15	chr7:121947425-121947475	HRE	kidney:	n/a
16	chr7:121947425-121947475	NHDF-neo	bronchial:	n/a
17	chr7:121947425-121947475	BJ	skin:	n/a
18	chr7:121947425-121947475	GM12892	blood:	n/a
19	chr7:121947425-121947475	BE2_C	brain:	n/a
20	chr7:121947425-121947475	NHBE	bronchial:	n/a
21	chr7:121947425-121947475	HIPEpiC	eye:	n/a
22	chr7:121947425-121947475	GM12891	blood:	n/a
23	chr7:121947425-121947475	AG04449	skin:	fetal
24	chr7:121947425-121947475	NB4	blood:	n/a
25	chr7:121947425-121947475	GM06990	blood:	n/a
26	chr7:121947425-121947475	RPTEC	kidney:	n/a
27	chr7:121947425-121947475	HCF	heart:	n/a
28	chr7:121947425-121947475	GM19239	blood:	n/a
29	chr7:121947425-121947475	NH-A	brain:	n/a
30	chr7:121947425-121947475	LNCaP	prostate:	n/a
31	chr7:121947425-121947475	HCM	heart:	n/a
32	chr7:121947425-121947475	Caco-2	colon:	n/a
33	chr7:121947425-121947475	HCT-116	colon:	n/a
34	chr7:121947425-121947475	HPAEpiC	pulmonary alveolar:	n/a
35	chr7:121947425-121947475	ECC-1	luminal epithelium:	n/a
36	chr7:121947425-121947475	PFSK-1	brain:	n/a
37	chr7:121947425-121947475	HepG2	liver:	n/a
38	chr7:121947425-121947475	U87	brain:	n/a
39	chr7:121947425-121947475	SK-N-MC	brain:	n/a
40	chr7:121947425-121947475	HL-60	blood:	n/a
41	chr7:121947425-121947475	PANC-1	pancreas:	n/a
42	chr7:121947425-121947475	MCF-7	breast:	n/a
43	chr7:121947425-121947475	IMR90	lung:	fetal
44	chr7:121947425-121947475	HUVEC	blood vessel:	n/a
45	chr7:121947425-121947475	HRPEpiC	eye:	n/a
46	chr7:121947425-121947475	SK-N-SH_RA	brain:	n/a
47	chr7:121947425-121947475	MCF10A-Er-Src	breast:	n/a
48	chr7:121947425-121947475	HEK293	kidney:	embryo
49	chr7:121947425-121947475	AG04450	lung:	fetal
50	chr7:121947425-121947475	SAEC	small airway:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRZ1-2	chr7:121946935-121947542	ENSG00000230316.2
2	lnc-PTPRZ1-2	chr7:121947357-121947542	NONHSAT123029

No data

Variant related genes	Relation type
FEZF1	TF binding region
FEZF1	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11761299	0.86[CHB][hapmap];0.90[CHD][hapmap]
rs11762051	0.81[CHB][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs1443753	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1867335	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs3958045	0.91[ASN][1000 genomes]
rs5007345	0.81[CHB][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs538558	0.86[CHB][hapmap]
rs58938116	0.91[AMR][1000 genomes]
rs6968786	0.86[CHB][hapmap]

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	nsv5931	chr7:121944137-121988594	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121939800-121947600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr7:121940000-121951000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:121943400-121947600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:121943400-121947600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr7:121943400-121947600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:121943400-121947800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr7:121943400-121948000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr7:121944000-121947600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:121944000-121947800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr7:121944800-121947600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:121945200-121947800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
12	chr7:121946000-121947600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr7:121946400-121948000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr7:121946600-121947600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:121946600-121951000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:121946800-121947600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:121946800-121950200	Weak transcription	Gastric	stomach
18	chr7:121947000-121947600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr7:121947200-121947600	Enhancers	Right Ventricle	heart
20	chr7:121947400-121947600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:121947400-121947800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:121947400-121947800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:121947400-121948400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
24	chr7:121947400-121951200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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