Variant report

Variant	rs73005823
Chromosome Location	chr1:152553244-152553245
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr1:152553049-152553471	MCF10A-Er-Src	breast:	n/a	chr1:152553216-152553224
2	FOS	chr1:152552901-152553469	MCF10A-Er-Src	breast:	n/a	chr1:152553307-152553315 chr1:152552939-152552947 chr1:152553308-152553315
3	MYC	chr1:152552943-152553415	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr1:152553012-152553470	MCF10A-Er-Src	breast:	n/a	chr1:152553216-152553224
5	FOS	chr1:152552926-152553507	MCF10A-Er-Src	breast:	n/a	chr1:152553307-152553315 chr1:152552939-152552947 chr1:152553308-152553315
6	STAT3	chr1:152552991-152553482	MCF10A-Er-Src	breast:	n/a	chr1:152553216-152553224
7	MYC	chr1:152552931-152553383	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr1:152552993-152553473	MCF10A-Er-Src	breast:	n/a	chr1:152553216-152553224
9	JUN	chr1:152553206-152553323	HepG2	liver:	n/a	chr1:152553307-152553315 chr1:152553308-152553315
10	FOS	chr1:152552949-152553402	MCF10A-Er-Src	breast:	n/a	chr1:152553307-152553315 chr1:152553308-152553315
11	FOS	chr1:152552915-152553462	MCF10A-Er-Src	breast:	n/a	chr1:152553307-152553315 chr1:152552939-152552947 chr1:152553308-152553315
12	STAT3	chr1:152553069-152553511	MCF10A-Er-Src	breast:	n/a	chr1:152553216-152553224

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152553244-152553294	AoSMC	blood vessel:	n/a
2	chr1:152553244-152553294	HL-60	blood:	n/a
3	chr1:152553244-152553294	HUVEC	blood vessel:	n/a
4	chr1:152553244-152553294	Hela-S3	cervix:	n/a
5	chr1:152553244-152553294	SK-N-MC	brain:	n/a
6	chr1:152553244-152553294	CMK	blood:	n/a
7	chr1:152553244-152553294	PANC-1	pancreas:	n/a
8	chr1:152553244-152553294	ovcar-3	ovarian:	n/a
9	chr1:152553244-152553294	NH-A	brain:	n/a
10	chr1:152553244-152553294	GM12892	blood:	n/a
11	chr1:152553244-152553294	SAEC	small airway:	n/a
12	chr1:152553244-152553294	SKMC	muscle:	n/a
13	chr1:152553244-152553294	AG09319	gingival:	n/a
14	chr1:152553244-152553294	U87	brain:	n/a
15	chr1:152553244-152553294	K562	blood:	n/a
16	chr1:152553244-152553294	ECC-1	luminal epithelium:	n/a
17	chr1:152553244-152553294	BJ	skin:	n/a
18	chr1:152553244-152553294	GM12878	blood:	n/a
19	chr1:152553244-152553294	HMEC	breast:	n/a
20	chr1:152553244-152553294	PFSK-1	brain:	n/a
21	chr1:152553244-152553294	HCT-116	colon:	n/a
22	chr1:152553244-152553294	H1-hESC	embryonic stem cell:	embryo
23	chr1:152553244-152553294	Hepatocyte	liver:	n/a
24	chr1:152553244-152553294	Jurkat	blood:	n/a
25	chr1:152553244-152553294	HEK293	kidney:	embryo
26	chr1:152553244-152553294	HRE	kidney:	n/a
27	chr1:152553244-152553294	Caco-2	colon:	n/a
28	chr1:152553244-152553294	SK-N-SH_RA	brain:	n/a
29	chr1:152553244-152553294	T-47D	breast:	n/a
30	chr1:152553244-152553294	HCPEpiC	choroid plexus:	n/a
31	chr1:152553244-152553294	HIPEpiC	eye:	n/a
32	chr1:152553244-152553294	MCF10A-Er-Src	breast:	n/a
33	chr1:152553244-152553294	NHBE	bronchial:	n/a
34	chr1:152553244-152553294	AG04449	skin:	fetal
35	chr1:152553244-152553294	HCF	heart:	n/a
36	chr1:152553244-152553294	GM19239	blood:	n/a
37	chr1:152553244-152553294	HAEpiC	amniotic membrane:	n/a
38	chr1:152553244-152553294	AG09309	skin:	n/a
39	chr1:152553244-152553294	GM12891	blood:	n/a
40	chr1:152553244-152553294	NT2-D1	testis:	n/a
41	chr1:152553244-152553294	PrEC	prostate:	n/a
42	chr1:152553244-152553294	RPTEC	kidney:	n/a
43	chr1:152553244-152553294	HepG2	liver:	n/a
44	chr1:152553244-152553294	HRCEpiC	kidney:	n/a
45	chr1:152553244-152553294	A549	lung:	n/a
46	chr1:152553244-152553294	AG10803	skin:	n/a
47	chr1:152553244-152553294	IMR90	lung:	fetal
48	chr1:152553244-152553294	SK-N-SH	brain:	n/a
49	chr1:152553244-152553294	MCF-7	breast:	n/a
50	chr1:152553244-152553294	HPAEpiC	pulmonary alveolar:	n/a

Variant related genes	Relation type
LCE3D	TF binding region
LCE3D	CpG island

Extended variants
information (count: 143 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916016	chr1:152337775-152590520	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2750810	chr1:152453669-152660927	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv1798404	chr1:152472839-152587113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1827111	chr1:152472839-152690073	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv1830764	chr1:152472839-152690073	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv2757755	chr1:152472839-152898153	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	esv2758970	chr1:152472839-152898153	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv547860	chr1:152497685-152553365	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv547861	chr1:152508562-152553365	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv547862	chr1:152508562-152591142	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv463861	chr1:152510348-152553365	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv547863	chr1:152510348-152553365	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv1001597	chr1:152511269-152555134	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv535162	chr1:152511269-152555134	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv463872	chr1:152514332-152553365	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv547864	chr1:152514332-152553365	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv1000403	chr1:152517845-152556402	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv1000036	chr1:152519124-152555134	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv999353	chr1:152526643-152555176	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
20	nsv1003895	chr1:152526643-152555515	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
21	nsv1008009	chr1:152526643-152556402	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
22	nsv1002425	chr1:152526643-152586582	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	esv2762965	chr1:152526643-152586594	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
24	nsv547865	chr1:152526812-152553365	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
25	nsv547866	chr1:152526812-152555005	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
26	nsv547867	chr1:152526812-152561408	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
27	nsv998381	chr1:152528295-152555134	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
28	nsv535163	chr1:152528295-152555134	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
29	nsv1014078	chr1:152528295-152572936	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
30	nsv535164	chr1:152528295-152572936	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
31	nsv535165	chr1:152528295-152591912	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
32	nsv463894	chr1:152529832-152553365	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
33	nsv463905	chr1:152529832-152553365	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
34	nsv463916	chr1:152529832-152553365	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
35	nsv463927	chr1:152529832-152553365	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
36	nsv463938	chr1:152529832-152553365	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
37	nsv463951	chr1:152529832-152553365	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
38	nsv463962	chr1:152529832-152553365	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
39	nsv463973	chr1:152529832-152553365	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
40	nsv547869	chr1:152529832-152553365	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
41	nsv547870	chr1:152529832-152590565	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
42	nsv463984	chr1:152529832-152591142	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
43	nsv547871	chr1:152529832-152591142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
44	nsv516961	chr1:152530510-152553365	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
45	nsv470739	chr1:152530510-152553365	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
46	nsv547875	chr1:152530510-152553365	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
47	nsv463995	chr1:152530510-152590565	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
48	nsv547876	chr1:152530510-152590565	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
49	nsv547877	chr1:152530510-152591142	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
50	nsv872446	chr1:152530510-152591142	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152550800-152555200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:152552400-152553400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:152552600-152553400	Enhancers	HMEC	breast
4	chr1:152552800-152553400	Enhancers	NHEK	skin

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