Variant report

Variant	rs548324574
Chromosome Location	chr4:165858590-165858591
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr4:165856452-165859552	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:165858544-165858594	PANC-1	pancreas:	n/a
2	chr4:165858544-165858594	AG10803	skin:	n/a
3	chr4:165858544-165858594	AG04450	lung:	fetal
4	chr4:165858544-165858594	PFSK-1	brain:	n/a
5	chr4:165858544-165858594	HCT-116	colon:	n/a
6	chr4:165858544-165858594	T-47D	breast:	n/a
7	chr4:165858544-165858594	K562	blood:	n/a
8	chr4:165858544-165858594	GM12878	blood:	n/a
9	chr4:165858544-165858594	AG04449	skin:	fetal
10	chr4:165858544-165858594	GM19239	blood:	n/a
11	chr4:165858544-165858594	HL-60	blood:	n/a
12	chr4:165858544-165858594	HNPCEpiC	eye:	n/a
13	chr4:165858544-165858594	BE2_C	brain:	n/a
14	chr4:165858544-165858594	NT2-D1	testis:	n/a
15	chr4:165858544-165858594	SK-N-MC	brain:	n/a
16	chr4:165858544-165858594	A549	lung:	n/a
17	chr4:165858544-165858594	GM12892	blood:	n/a
18	chr4:165858544-165858594	SK-N-SH_RA	brain:	n/a
19	chr4:165858544-165858594	Hepatocyte	liver:	n/a
20	chr4:165858544-165858594	ProgFib	skin:	n/a
21	chr4:165858544-165858594	HCPEpiC	choroid plexus:	n/a
22	chr4:165858544-165858594	HEEpiC	esophagus:	n/a
23	chr4:165858544-165858594	HEK293	kidney:	embryo
24	chr4:165858544-165858594	HUVEC	blood vessel:	n/a
25	chr4:165858544-165858594	SAEC	small airway:	n/a
26	chr4:165858544-165858594	PrEC	prostate:	n/a
27	chr4:165858544-165858594	NHDF-neo	bronchial:	n/a
28	chr4:165858544-165858594	NB4	blood:	n/a
29	chr4:165858544-165858594	Hela-S3	cervix:	n/a
30	chr4:165858544-165858594	HMEC	breast:	n/a
31	chr4:165858544-165858594	AG09319	gingival:	n/a
32	chr4:165858544-165858594	HepG2	liver:	n/a
33	chr4:165858544-165858594	HRE	kidney:	n/a
34	chr4:165858544-165858594	CMK	blood:	n/a
35	chr4:165858544-165858594	Caco-2	colon:	n/a
36	chr4:165858544-165858594	H1-hESC	embryonic stem cell:	embryo
37	chr4:165858544-165858594	ovcar-3	ovarian:	n/a
38	chr4:165858544-165858594	HCM	heart:	n/a
39	chr4:165858544-165858594	ECC-1	luminal epithelium:	n/a
40	chr4:165858544-165858594	BJ	skin:	n/a
41	chr4:165858544-165858594	HRPEpiC	eye:	n/a
42	chr4:165858544-165858594	U87	brain:	n/a
43	chr4:165858544-165858594	HPAEpiC	pulmonary alveolar:	n/a
44	chr4:165858544-165858594	GM12891	blood:	n/a
45	chr4:165858544-165858594	IMR90	lung:	fetal
46	chr4:165858544-165858594	Jurkat	blood:	n/a
47	chr4:165858544-165858594	AG09309	skin:	n/a
48	chr4:165858544-165858594	LNCaP	prostate:	n/a
49	chr4:165858544-165858594	NH-A	brain:	n/a
50	chr4:165858544-165858594	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:165856166..165858715-chr4:165877906..165879898,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270960	TF binding region
ENSG00000270960	CpG island
ENSG00000250486	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461821	chr4:165402309-165859951	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv596037	chr4:165402309-165859951	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1019150	chr4:165505585-165907924	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1026152	chr4:165622244-166027447	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv537336	chr4:165622244-166027447	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv880382	chr4:165793001-165964290	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	esv2757965	chr4:165801816-165976350	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	esv2759299	chr4:165801816-165976350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	nsv528686	chr4:165814359-165930168	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv967697	chr4:165843736-165889668	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1015970	chr4:165852926-165973078	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv830140	chr4:165855999-165956612	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv822815	chr4:165858272-165862356	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165854200-165858600	Weak transcription	HSMMtube	muscle
2	chr4:165855200-165858800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:165857400-165859400	Flanking Active TSS	GM12878-XiMat	blood
4	chr4:165857600-165859200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr4:165857600-165859200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:165857600-165859200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:165857600-165859200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:165857800-165859200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:165857800-165859200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:165858000-165859200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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