Variant report

Variant	rs528989305
Chromosome Location	chr1:153045287-153045288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr1:153045259-153045720	K562	blood:	n/a	chr1:153045389-153045399 chr1:153045390-153045397 chr1:153045390-153045399
2	CEBPD	chr1:153045266-153045639	K562	blood:	n/a	n/a
3	PML	chr1:153045264-153045622	K562	blood:	n/a	n/a
4	TEAD4	chr1:153045238-153045689	K562	blood:	n/a	n/a
5	GATA2	chr1:153045208-153046108	K562	blood:	n/a	chr1:153045389-153045399 chr1:153045830-153045841 chr1:153045390-153045397 chr1:153045390-153045399
6	TEAD4	chr1:153045190-153046126	K562	blood:	n/a	n/a
7	TAL1	chr1:153045245-153046104	K562	blood:	n/a	chr1:153045952-153045970

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:153045274-153045324	HEEpiC	esophagus:	n/a
2	chr1:153045274-153045324	Hela-S3	cervix:	n/a
3	chr1:153045274-153045324	Caco-2	colon:	n/a
4	chr1:153045274-153045324	NB4	blood:	n/a
5	chr1:153045274-153045324	GM06990	blood:	n/a
6	chr1:153045274-153045324	HRE	kidney:	n/a
7	chr1:153045274-153045324	GM12878	blood:	n/a
8	chr1:153045274-153045324	LNCaP	prostate:	n/a
9	chr1:153045274-153045324	H1-hESC	embryonic stem cell:	embryo
10	chr1:153045274-153045324	NHDF-neo	bronchial:	n/a
11	chr1:153045274-153045324	HRPEpiC	eye:	n/a
12	chr1:153045274-153045324	GM12891	blood:	n/a
13	chr1:153045274-153045324	SK-N-SH	brain:	n/a
14	chr1:153045274-153045324	PrEC	prostate:	n/a
15	chr1:153045274-153045324	NH-A	brain:	n/a
16	chr1:153045274-153045324	AG04449	skin:	fetal
17	chr1:153045274-153045324	AG04450	lung:	fetal
18	chr1:153045274-153045324	ECC-1	luminal epithelium:	n/a
19	chr1:153045274-153045324	BE2_C	brain:	n/a
20	chr1:153045274-153045324	AG10803	skin:	n/a
21	chr1:153045274-153045324	HIPEpiC	eye:	n/a
22	chr1:153045274-153045324	SAEC	small airway:	n/a
23	chr1:153045274-153045324	ovcar-3	ovarian:	n/a
24	chr1:153045274-153045324	K562	blood:	n/a
25	chr1:153045274-153045324	NHBE	bronchial:	n/a
26	chr1:153045274-153045324	U87	brain:	n/a
27	chr1:153045274-153045324	MCF10A-Er-Src	breast:	n/a
28	chr1:153045274-153045324	HL-60	blood:	n/a
29	chr1:153045274-153045324	ProgFib	skin:	n/a
30	chr1:153045274-153045324	AG09319	gingival:	n/a
31	chr1:153045274-153045324	HNPCEpiC	eye:	n/a
32	chr1:153045274-153045324	SK-N-SH_RA	brain:	n/a
33	chr1:153045274-153045324	HCPEpiC	choroid plexus:	n/a
34	chr1:153045274-153045324	T-47D	breast:	n/a
35	chr1:153045274-153045324	IMR90	lung:	fetal
36	chr1:153045274-153045324	HCT-116	colon:	n/a
37	chr1:153045274-153045324	CMK	blood:	n/a
38	chr1:153045274-153045324	RPTEC	kidney:	n/a
39	chr1:153045274-153045324	HAEpiC	amniotic membrane:	n/a
40	chr1:153045274-153045324	SKMC	muscle:	n/a
41	chr1:153045274-153045324	GM12892	blood:	n/a
42	chr1:153045274-153045324	Jurkat	blood:	n/a
43	chr1:153045274-153045324	HMEC	breast:	n/a
44	chr1:153045274-153045324	HEK293	kidney:	embryo
45	chr1:153045274-153045324	A549	lung:	n/a
46	chr1:153045274-153045324	HPAEpiC	pulmonary alveolar:	n/a
47	chr1:153045274-153045324	HRCEpiC	kidney:	n/a
48	chr1:153045274-153045324	MCF-7	breast:	n/a
49	chr1:153045274-153045324	PANC-1	pancreas:	n/a
50	chr1:153045274-153045324	AG09309	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:153040069..153041954-chr1:153044290..153046075,2	K562	blood:

No data

Variant related genes	Relation type
SPRR2B	TF binding region
SPRR2B	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
4	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
7	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv464017	chr1:153033406-153099345	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv547920	chr1:153033406-153099345	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv946395	chr1:153042430-153069958	Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3334814	chr1:153044548-153067651	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 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	chr1:153032200-153053400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:153044000-153045400	Enhancers	K562	blood

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