Variant report

Variant	rs528150604
Chromosome Location	chr7:112434534-112434535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr7:112433919-112434914	MCF10A-Er-Src	breast:	n/a	chr7:112434697-112434708
2	CBX3	chr7:112434186-112434880	K562	blood:	n/a	n/a
3	STAT3	chr7:112433960-112434914	MCF10A-Er-Src	breast:	n/a	chr7:112434697-112434708
4	ZC3H11A	chr7:112434515-112434758	K562	blood:	n/a	n/a
5	STAT5A	chr7:112434435-112434877	K562	blood:	n/a	n/a
6	RCOR1	chr7:112434489-112434760	K562	blood:	n/a	n/a
7	STAT3	chr7:112433945-112434873	MCF10A-Er-Src	breast:	n/a	chr7:112434697-112434708
8	YY1	chr7:112434445-112434768	K562	blood:	n/a	n/a
9	STAT3	chr7:112433911-112435111	MCF10A-Er-Src	breast:	n/a	chr7:112434697-112434708
10	ATF1	chr7:112434525-112434784	K562	blood:	n/a	n/a
11	JUN	chr7:112434495-112434862	K562	blood:	n/a	n/a
12	EP300	chr7:112433966-112434781	K562	blood:	n/a	n/a
13	SPI1	chr7:112434494-112434751	K562	blood:	n/a	n/a
14	ELF1	chr7:112434434-112434841	K562	blood:	n/a	n/a
15	JUND	chr7:112434513-112434866	K562	blood:	n/a	n/a
16	TEAD4	chr7:112434397-112434857	K562	blood:	n/a	n/a
17	FOS	chr7:112434526-112434844	MCF10A-Er-Src	breast:	n/a	n/a
18	MYC	chr7:112434525-112434822	K562	blood:	n/a	n/a
19	CUX1	chr7:112434531-112434692	K562	blood:	n/a	n/a
20	MAFK	chr7:112434434-112434696	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:112434498-112434548	AG09309	skin:	n/a
2	chr7:112434498-112434548	AG10803	skin:	n/a
3	chr7:112434498-112434548	AG09319	gingival:	n/a
4	chr7:112434498-112434548	NT2-D1	testis:	n/a
5	chr7:112434498-112434548	SK-N-SH_RA	brain:	n/a
6	chr7:112434498-112434548	HL-60	blood:	n/a
7	chr7:112434498-112434548	AoSMC	blood vessel:	n/a
8	chr7:112434498-112434548	U87	brain:	n/a
9	chr7:112434498-112434548	A549	lung:	n/a
10	chr7:112434498-112434548	Caco-2	colon:	n/a
11	chr7:112434498-112434548	PFSK-1	brain:	n/a
12	chr7:112434498-112434548	HMEC	breast:	n/a
13	chr7:112434498-112434548	BE2_C	brain:	n/a
14	chr7:112434498-112434548	PrEC	prostate:	n/a
15	chr7:112434498-112434548	NB4	blood:	n/a
16	chr7:112434498-112434548	SAEC	small airway:	n/a
17	chr7:112434498-112434548	LNCaP	prostate:	n/a
18	chr7:112434498-112434548	SKMC	muscle:	n/a
19	chr7:112434498-112434548	HCT-116	colon:	n/a
20	chr7:112434498-112434548	SK-N-SH	brain:	n/a
21	chr7:112434498-112434548	GM12891	blood:	n/a
22	chr7:112434498-112434548	HUVEC	blood vessel:	n/a
23	chr7:112434498-112434548	T-47D	breast:	n/a
24	chr7:112434498-112434548	HCM	heart:	n/a
25	chr7:112434498-112434548	Hela-S3	cervix:	n/a
26	chr7:112434498-112434548	ovcar-3	ovarian:	n/a
27	chr7:112434498-112434548	BJ	skin:	n/a
28	chr7:112434498-112434548	HepG2	liver:	n/a
29	chr7:112434498-112434548	Jurkat	blood:	n/a
30	chr7:112434498-112434548	SK-N-MC	brain:	n/a
31	chr7:112434498-112434548	IMR90	lung:	fetal
32	chr7:112434498-112434548	HAEpiC	amniotic membrane:	n/a
33	chr7:112434498-112434548	Hepatocyte	liver:	n/a
34	chr7:112434498-112434548	ProgFib	skin:	n/a
35	chr7:112434498-112434548	AG04449	skin:	fetal
36	chr7:112434498-112434548	NHDF-neo	bronchial:	n/a
37	chr7:112434498-112434548	RPTEC	kidney:	n/a
38	chr7:112434498-112434548	NHBE	bronchial:	n/a
39	chr7:112434498-112434548	HEEpiC	esophagus:	n/a
40	chr7:112434498-112434548	CMK	blood:	n/a
41	chr7:112434498-112434548	NH-A	brain:	n/a
42	chr7:112434498-112434548	HCF	heart:	n/a
43	chr7:112434498-112434548	AG04450	lung:	fetal
44	chr7:112434498-112434548	H1-hESC	embryonic stem cell:	embryo
45	chr7:112434498-112434548	MCF10A-Er-Src	breast:	n/a
46	chr7:112434498-112434548	HRE	kidney:	n/a
47	chr7:112434498-112434548	HRCEpiC	kidney:	n/a
48	chr7:112434498-112434548	MCF-7	breast:	n/a
49	chr7:112434498-112434548	HIPEpiC	eye:	n/a
50	chr7:112434498-112434548	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112432334..112434564-chr7:112518600..112520396,2	K562	blood:
2	chr7:112429019..112430745-chr7:112433310..112435464,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM168	TF binding region
TMEM168	CpG island
ENSG00000146802	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv967494	chr7:112430613-112445931	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	nsv1031405	chr7:112431403-112476756	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv429801	chr7:112434049-112477049	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	esv2752145	chr7:112434049-112500049	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
8	nsv1023222	chr7:112434413-112476756	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
9	nsv1034863	chr7:112434413-112504160	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112430800-112440400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:112432400-112434800	Enhancers	K562	blood

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