Variant report

Variant	rs145101866
Chromosome Location	chr5:88713957-88713958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:69)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:69 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:88713880-88714030	HCT-116	colon:	n/a	n/a
2	CTCF	chr5:88713940-88714090	RPTEC	kidney:	n/a	n/a
3	ZNF384	chr5:88713834-88714478	K562	blood:	n/a	n/a
4	CTCF	chr5:88713872-88714102	K562	blood:	n/a	n/a
5	CTCF	chr5:88713920-88714070	HBMEC	blood vessel:	n/a	n/a
6	MAZ	chr5:88713840-88714421	K562	blood:	n/a	n/a
7	CTCF	chr5:88713924-88714051	MCF-7	breast:	n/a	n/a
8	CTCF	chr5:88713940-88714090	HMEC	breast:	n/a	n/a
9	CTCF	chr5:88713920-88714070	GM12873	blood:	n/a	n/a
10	RCOR1	chr5:88713910-88714802	K562	blood:	n/a	n/a
11	SMC3	chr5:88713870-88714150	K562	blood:	n/a	n/a
12	CTCF	chr5:88713752-88714143	K562	blood:	n/a	n/a
13	CTCF	chr5:88713922-88714044	Gliobla	brain:	n/a	n/a
14	ZNF143	chr5:88713951-88714082	K562	blood:	n/a	n/a
15	CTCF	chr5:88713920-88714070	GM12874	blood:	n/a	n/a
16	CTCF	chr5:88713920-88714070	WERI-Rb-1	eye:	n/a	n/a
17	CTCF	chr5:88713940-88714090	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr5:88713940-88714090	GM12872	blood:	n/a	n/a
19	CTCF	chr5:88713920-88714070	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr5:88713920-88714070	NHDF-neo	bronchial:	n/a	n/a
21	TEAD4	chr5:88713869-88714762	K562	blood:	n/a	n/a
22	CTCF	chr5:88713880-88714030	K562	blood:	n/a	n/a
23	CTCF	chr5:88713827-88714241	K562	blood:	n/a	n/a
24	REST	chr5:88713902-88714447	K562	blood:	n/a	n/a
25	CTCF	chr5:88713940-88714090	AG04449	skin:	n/a	n/a
26	CTCF	chr5:88713940-88714090	GM12878	blood:	n/a	n/a
27	CTCF	chr5:88713940-88714090	AG04450	lung:	n/a	n/a
28	CTCF	chr5:88713917-88714116	K562	blood:	n/a	n/a
29	RAD21	chr5:88713767-88714198	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr5:88713900-88714050	HAc	cerebellar:	n/a	n/a
31	CTCF	chr5:88713940-88714090	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr5:88713920-88714070	NHEK	skin:	n/a	n/a
33	CTCF	chr5:88713880-88714030	GM12875	blood:	n/a	n/a
34	CTCF	chr5:88713940-88714090	SK-N-SH_RA	brain:	n/a	n/a
35	RAD21	chr5:88713830-88714088	SK-N-SH_RA	brain:	n/a	n/a
36	RAD21	chr5:88713944-88714064	K562	blood:	n/a	n/a
37	CTCF	chr5:88713952-88714069	Hela-S3	cervix:	n/a	n/a
38	TEAD4	chr5:88713863-88714616	K562	blood:	n/a	n/a
39	RAD21	chr5:88713844-88714294	HCT-116	colon:	n/a	n/a
40	CTCF	chr5:88713940-88714090	HPAF	blood vessel:	n/a	n/a
41	CTCF	chr5:88713900-88714050	HepG2	liver:	n/a	n/a
42	CTCF	chr5:88713955-88714035	GM19238	blood:	n/a	n/a
43	RAD21	chr5:88713838-88714137	H1-hESC	embryonic stem cell:	n/a	n/a
44	GATA1	chr5:88713851-88714745	K562	blood:	n/a	n/a
45	CTCF	chr5:88713860-88714010	HMF	breast:	n/a	n/a
46	RAD21	chr5:88713877-88714138	K562	blood:	n/a	n/a
47	CTCF	chr5:88713860-88714010	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr5:88713900-88714050	MCF-7	breast:	n/a	n/a
49	CTCF	chr5:88713920-88714070	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr5:88713940-88714090	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:88712499..88714282-chr5:88718036..88720039,2	K562	blood:

No data

Variant related genes	Relation type
MEF2C-AS1	TF binding region

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	nsv532159	chr5:88016214-88783092	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv533373	chr5:88062497-89028098	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv529543	chr5:88348147-88783092	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv830388	chr5:88578939-88793870	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv598927	chr5:88647766-88780868	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
6	nsv830389	chr5:88669984-88860383	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv882357	chr5:88677293-88774328	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
8	nsv882358	chr5:88677293-88776034	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
9	nsv882359	chr5:88710519-88785384	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88713400-88717600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr5:88713600-88715000	Enhancers	K562	blood
3	chr5:88713800-88714800	Enhancers	Primary monocytes fromperipheralblood	blood

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