Variant report

Variant	rs542951871
Chromosome Location	chr7:138333859-138333860
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	chr7:138333720-138333870	BE2_C	brain:	n/a	n/a
2	CTCF	chr7:138333787-138333861	HepG2	liver:	n/a	n/a
3	ZNF143	chr7:138333711-138333954	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr7:138333727-138333872	HepG2	liver:	n/a	n/a
5	CTCF	chr7:138333683-138333919	K562	blood:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
6	CTCF	chr7:138333740-138333890	HRPEpiC	eye:	n/a	n/a
7	CTCF	chr7:138333609-138333901	H1-hESC	embryonic stem cell:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
8	RAD21	chr7:138333712-138333868	HepG2	liver:	n/a	n/a
9	CTCF	chr7:138333612-138333948	K562	blood:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
10	CTCF	chr7:138333720-138333906	K562	blood:	n/a	n/a
11	CTCF	chr7:138333800-138333950	NB4	blood:	n/a	n/a
12	CTCF	chr7:138333740-138333891	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr7:138333760-138333910	GM12872	blood:	n/a	n/a
14	RCOR1	chr7:138333693-138333933	K562	blood:	n/a	n/a
15	CTCF	chr7:138333720-138333870	HEK293	kidney:	n/a	n/a
16	RAD21	chr7:138333553-138334032	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr7:138333720-138333870	HepG2	liver:	n/a	n/a
18	RAD21	chr7:138333622-138333932	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr7:138333696-138333910	MCF-7	breast:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
20	RAD21	chr7:138333626-138333977	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr7:138333820-138333970	GM12872	blood:	n/a	n/a
22	CTCF	chr7:138333696-138333874	HepG2	liver:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
23	CTCF	chr7:138333720-138333870	GM06990	blood:	n/a	n/a
24	CTCF	chr7:138333720-138333870	GM12875	blood:	n/a	n/a
25	CTCF	chr7:138333840-138333990	A549	lung:	n/a	n/a
26	CTCF	chr7:138333740-138333890	GM12873	blood:	n/a	n/a
27	CTCF	chr7:138333840-138333990	HRPEpiC	eye:	n/a	n/a
28	CTCF	chr7:138333732-138333871	Gliobla	brain:	n/a	n/a
29	CTCF	chr7:138333740-138333876	MCF-7	breast:	n/a	n/a
30	CTCF	chr7:138333795-138333869	GM19240	blood:	n/a	n/a
31	RAD21	chr7:138333715-138333870	K562	blood:	n/a	n/a
32	CTCF	chr7:138333720-138333870	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr7:138333644-138333901	H1-hESC	embryonic stem cell:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
34	RAD21	chr7:138333674-138334012	HCT-116	colon:	n/a	n/a
35	RAD21	chr7:138333711-138333921	K562	blood:	n/a	n/a
36	CTCF	chr7:138333762-138333886	GM12878	blood:	n/a	n/a
37	CTCF	chr7:138333699-138333918	H1-hESC	embryonic stem cell:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
38	CTCF	chr7:138333540-138334058	K562	blood:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
39	CTCF	chr7:138333800-138333950	RPTEC	kidney:	n/a	n/a
40	JUND	chr7:138333741-138333918	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr7:138333648-138333986	K562	blood:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
42	SMC3	chr7:138333752-138333907	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138134483..138135008-chr7:138333376..138334299,2	K562	blood:

Variant related genes	Relation type
ENSG00000234658	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv3438653	chr7:138333736-138336496	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138333600-138335200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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