Variant report

Variant	rs563078931
Chromosome Location	chr6:29344051-29344052
allele	A/C
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	RAD21	chr6:29343857-29344197	ECC-1	luminal epithelium:	n/a	chr6:29343951-29343970
2	CTCF	chr6:29343920-29344070	WERI-Rb-1	eye:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
3	RAD21	chr6:29343858-29344286	SK-N-SH	brain:	n/a	chr6:29343951-29343970
4	RAD21	chr6:29343758-29344127	MCF-7	breast:	n/a	chr6:29343951-29343970
5	CTCF	chr6:29343894-29344096	A549	lung:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
6	CTCF	chr6:29343908-29344052	Hela-S3	cervix:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
7	RAD21	chr6:29343871-29344078	HepG2	liver:	n/a	chr6:29343951-29343970
8	CTCF	chr6:29343920-29344070	HCPEpiC	choroid plexus:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
9	SMC3	chr6:29343730-29344143	GM12878	blood:	n/a	n/a
10	CTCF	chr6:29343822-29344082	K562	blood:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
11	RAD21	chr6:29343713-29344272	HCT-116	colon:	n/a	chr6:29343951-29343970
12	CTCF	chr6:29343920-29344070	HCT-116	colon:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
13	RAD21	chr6:29343760-29344097	SK-N-SH_RA	brain:	n/a	chr6:29343951-29343970
14	CTCF	chr6:29343707-29344164	MCF-7	breast:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
15	TBP	chr6:29343970-29344142	GM12878	blood:	n/a	n/a
16	CTCF	chr6:29343940-29344060	Gliobla	brain:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
17	RAD21	chr6:29343699-29344172	HepG2	liver:	n/a	chr6:29343951-29343970
18	CTCF	chr6:29343664-29344257	SK-N-SH	brain:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
19	CTCF	chr6:29343885-29344064	HUVEC	blood vessel:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
20	CTCF	chr6:29343942-29344056	NHEK	skin:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
21	CTCF	chr6:29343936-29344061	GM10266	blood:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
22	RAD21	chr6:29343808-29344144	GM12878	blood:	n/a	chr6:29343951-29343970
23	RAD21	chr6:29343921-29344091	Hela-S3	cervix:	n/a	chr6:29343951-29343970
24	CTCF	chr6:29343884-29344055	HepG2	liver:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
25	CTCF	chr6:29343920-29344070	HRPEpiC	eye:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
26	CTCF	chr6:29343858-29344071	K562	blood:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
27	CTCF	chr6:29343920-29344070	RPTEC	kidney:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
28	CTCF	chr6:29343724-29344261	HCT-116	colon:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
29	ZNF143	chr6:29343809-29344104	GM12878	blood:	n/a	n/a
30	CTCF	chr6:29343940-29344090	GM12878	blood:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
31	RAD21	chr6:29343790-29344176	H1-hESC	embryonic stem cell:	n/a	chr6:29343951-29343970
32	CTCF	chr6:29343940-29344090	HepG2	liver:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
33	RAD21	chr6:29343644-29344183	HCT-116	colon:	n/a	chr6:29343951-29343970
34	CTCF	chr6:29343940-29344090	GM12865	blood:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
35	RAD21	chr6:29343761-29344080	A549	lung:	n/a	chr6:29343951-29343970
36	RAD21	chr6:29343835-29344236	HepG2	liver:	n/a	chr6:29343951-29343970
37	ARID3A	chr6:29343963-29344143	HepG2	liver:	n/a	n/a
38	CTCF	chr6:29343921-29344064	MCF-7	breast:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
39	RAD21	chr6:29343729-29344216	H1-hESC	embryonic stem cell:	n/a	chr6:29343951-29343970
40	CTCF	chr6:29343920-29344070	HCFaa	heart:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
41	HDAC2	chr6:29343866-29344078	H1-hESC	embryonic stem cell:	n/a	n/a
42	RAD21	chr6:29343799-29344087	GM12878	blood:	n/a	chr6:29343951-29343970
43	RAD21	chr6:29343749-29344193	MCF-7	breast:	n/a	chr6:29343951-29343970
44	CTCF	chr6:29343790-29344139	GM12878	blood:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
45	RAD21	chr6:29343844-29344065	SK-N-SH_RA	brain:	n/a	chr6:29343951-29343970
46	RAD21	chr6:29343756-29344097	H1-hESC	embryonic stem cell:	n/a	chr6:29343951-29343970
47	CTCF	chr6:29343940-29344090	NHDF-neo	bronchial:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
48	CTCF	chr6:29343920-29344070	GM12872	blood:	n/a	chr6:29343952-29343973 chr6:29343950-29343968

No.	Distal block	Cell Line	Cell type
1	chr6:29343538..29344515-chr6:29556985..29557870,6	MCF-7	breast:
2	chr6:29343942..29344473-chr6:29556992..29557505,2	MCF-7	breast:
3	chr6:29343821..29344378-chr6:29664074..29664947,2	MCF-7	breast:

Variant related genes	Relation type
OR12D3	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601215	chr6:28946920-29348297	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv1018937	chr6:28956136-29366175	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv1020683	chr6:29225146-29353408	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv830624	chr6:29274525-29445565	Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv966676	chr6:29326915-29365789	Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv883527	chr6:29342825-29354799	Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv519453	chr6:29343355-29351873	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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