Variant report

Variant	rs542252850
Chromosome Location	chr14:22236486-22236487
allele	C/T
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	CTCF	chr14:22236460-22236610	HMEC	breast:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
2	CTCF	chr14:22236431-22236674	Hela-S3	cervix:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
3	CTCF	chr14:22236344-22236769	H1-hESC	embryonic stem cell:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
4	CTCF	chr14:22236417-22236670	GM12878	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
5	CTCF	chr14:22236414-22236702	SK-N-SH_RA	brain:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
6	CTCF	chr14:22236480-22236630	GM12801	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
7	CTCF	chr14:22236460-22236610	HEEpiC	esophagus:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
8	CTCF	chr14:22236480-22236630	HVMF	connective:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
9	MAZ	chr14:22236393-22236701	K562	blood:	n/a	n/a
10	CTCF	chr14:22236424-22236694	HUVEC	blood vessel:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
11	CTCF	chr14:22236480-22236630	A549	lung:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
12	CTCF	chr14:22236466-22236732	K562	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
13	CTCF	chr14:22236440-22236590	GM12874	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
14	RAD21	chr14:22236306-22236791	MCF-7	breast:	n/a	chr14:22236544-22236563 chr14:22236548-22236557 chr14:22236549-22236561
15	CTCF	chr14:22236445-22236626	T-47D	breast:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
16	ARID3A	chr14:22236446-22236646	K562	blood:	n/a	n/a
17	CTCF	chr14:22236400-22236550	GM12871	blood:	n/a	n/a
18	CTCF	chr14:22236460-22236610	HBMEC	blood vessel:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
19	CTCF	chr14:22236480-22236630	HUVEC	blood vessel:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
20	CTCF	chr14:22236480-22236630	Caco-2	colon:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
21	CTCF	chr14:22236451-22236670	HepG2	liver:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
22	CTCF	chr14:22236480-22236630	AG04450	lung:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
23	CTCF	chr14:22236400-22236550	GM12878	blood:	n/a	n/a
24	CTCF	chr14:22236480-22236630	GM12875	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
25	CTCF	chr14:22236460-22236610	HPF	lung:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
26	RAD21	chr14:22236263-22236752	H1-hESC	embryonic stem cell:	n/a	chr14:22236544-22236563 chr14:22236548-22236557 chr14:22236549-22236561
27	CTCF	chr14:22236453-22236628	Spleen_OC	spleen:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
28	CTCF	chr14:22236399-22236722	IMR90	lung:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
29	CTCF	chr14:22236021-22236935	A549	lung:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
30	CTCF	chr14:22236400-22236550	HAc	cerebellar:	n/a	n/a
31	CTCF	chr14:22236460-22236610	GM12872	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
32	CTCF	chr14:22236460-22236610	GM12869	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
33	CTCF	chr14:22236460-22236610	AG04449	skin:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
34	CTCF	chr14:22236460-22236610	GM12875	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
35	KAP1	chr14:22236486-22236691	U2OS	brain:	n/a	n/a
36	CTCF	chr14:22236480-22236630	RPTEC	kidney:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
37	CTCF	chr14:22236440-22236590	GM12878	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
38	CTCF	chr14:22236389-22236669	K562	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
39	CTCF	chr14:22236460-22236610	SK-N-SH_RA	brain:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
40	CTCF	chr14:22236440-22236672	GM13977	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
41	CTCF	chr14:22236301-22237044	SK-N-SH	brain:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
42	CTCF	chr14:22236485-22236619	A549	lung:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
43	ZNF143	chr14:22236392-22236702	GM12878	blood:	n/a	n/a
44	CTCF	chr14:22236474-22236692	NHEK	skin:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
45	CTCF	chr14:22236461-22236629	ECC-1	luminal epithelium:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
46	RAD21	chr14:22236324-22236760	H1-hESC	embryonic stem cell:	n/a	chr14:22236544-22236563 chr14:22236548-22236557 chr14:22236549-22236561
47	CTCF	chr14:22236480-22236630	GM12872	blood:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
48	RAD21	chr14:22236457-22236715	GM12878	blood:	n/a	chr14:22236544-22236563 chr14:22236548-22236557 chr14:22236549-22236561
49	CTCF	chr14:22236460-22236610	AG04450	lung:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
50	CTCF	chr14:22236440-22236590	AG10803	skin:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:22236090..22236721-chr14:22293035..22293909,3	MCF-7	breast:

Variant related genes	Relation type
TRAV6	TF binding region
ENSG00000211784	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042309	chr14:22042511-22866936	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	90 gene(s)	inside rSNPs	diseases
2	nsv456147	chr14:22073473-22305071	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv563851	chr14:22073473-22305071	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv563852	chr14:22205447-22344160	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv528996	chr14:22220569-22242293	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv901480	chr14:22221211-22255090	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1037902	chr14:22229021-22354103	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv832741	chr14:22235781-22413637	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22236200-22236800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr14:22236200-22237000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr14:22236200-22237400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:22236200-22237400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:22236400-22236600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr14:22236400-22237000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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