Variant report

Variant	rs73536643
Chromosome Location	chr6:114429710-114429711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:217)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:217 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr6:114429430-114429877	MCF-7	breast:	n/a	n/a
2	UBTF	chr6:114429675-114429934	K562	blood:	n/a	n/a
3	CTCF	chr6:114429640-114429790	BE2_C	brain:	n/a	n/a
4	CTCF	chr6:114429594-114429918	ECC-1	luminal epithelium:	n/a	n/a
5	CTCF	chr6:114429640-114429790	HFF-Myc	foreskin:	n/a	n/a
6	RFX5	chr6:114429533-114429889	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr6:114429680-114429830	GM12865	blood:	n/a	n/a
8	CTCF	chr6:114429620-114429872	K562	blood:	n/a	n/a
9	CTCF	chr6:114429700-114429850	HA-sp	spinal cord:	n/a	n/a
10	CTCF	chr6:114429453-114429899	MCF-7	breast:	n/a	n/a
11	CTCF	chr6:114429603-114429843	A549	lung:	n/a	n/a
12	CTCF	chr6:114429680-114429830	GM12868	blood:	n/a	n/a
13	CTCF	chr6:114429539-114429855	ProgFib	skin:	n/a	n/a
14	CTCF	chr6:114429640-114429790	GM12869	blood:	n/a	n/a
15	WRNIP1	chr6:114429615-114429789	GM12878	blood:	n/a	n/a
16	CTCF	chr6:114429528-114429949	GM12878	blood:	n/a	n/a
17	CTCF	chr6:114429700-114429850	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr6:114429700-114429850	HUVEC	blood vessel:	n/a	n/a
19	RAD21	chr6:114429419-114429905	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr6:114429575-114429827	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr6:114429555-114429859	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr6:114429640-114429790	GM12878	blood:	n/a	n/a
23	SETDB1	chr6:114429048-114429854	U2OS	brain:	n/a	n/a
24	CTCF	chr6:114429700-114429850	HPF	lung:	n/a	n/a
25	CTCF	chr6:114429610-114429874	LNCaP	prostate:	n/a	n/a
26	CTCF	chr6:114429700-114429850	K562	blood:	n/a	n/a
27	CTCF	chr6:114429680-114429830	HMEC	breast:	n/a	n/a
28	CTCF	chr6:114429620-114429770	HCT-116	colon:	n/a	n/a
29	CTCF	chr6:114429700-114429850	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr6:114429551-114429899	T-47D	breast:	n/a	n/a
31	CTCF	chr6:114429620-114429770	GM06990	blood:	n/a	n/a
32	CTCF	chr6:114429598-114429820	MCF-7	breast:	n/a	n/a
33	RAD21	chr6:114429457-114429959	A549	lung:	n/a	n/a
34	RAD21	chr6:114429579-114429896	GM12878	blood:	n/a	n/a
35	CTCF	chr6:114429544-114429883	Gliobla	brain:	n/a	n/a
36	CTCF	chr6:114429456-114430020	HCT-116	colon:	n/a	n/a
37	CTCF	chr6:114429700-114429850	GM12878	blood:	n/a	n/a
38	CTCF	chr6:114429640-114429790	GM12871	blood:	n/a	n/a
39	CTCF	chr6:114429640-114429790	GM12874	blood:	n/a	n/a
40	CTCF	chr6:114429680-114429830	HA-sp	spinal cord:	n/a	n/a
41	CTCF	chr6:114429637-114429873	LNCaP	prostate:	n/a	n/a
42	CTCF	chr6:114429603-114429878	GM12878	blood:	n/a	n/a
43	CTCF	chr6:114429575-114429842	GM19240	blood:	n/a	n/a
44	CTCF	chr6:114429680-114429830	GM12872	blood:	n/a	n/a
45	CTCF	chr6:114429592-114429807	MCF-7	breast:	n/a	n/a
46	CTCF	chr6:114429680-114429830	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr6:114429680-114429830	AG04449	skin:	n/a	n/a
48	GTF2F1	chr6:114429469-114429860	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr6:114429620-114429770	GM12872	blood:	n/a	n/a
50	CTCF	chr6:114429636-114429810	GM19239	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:114315251..114317290-chr6:114428731..114430247,21	MCF-7	breast:
2	chr6:114291142..114292984-chr6:114429572..114431280,2	MCF-7	breast:
3	chr6:114315796..114316850-chr6:114429268..114430480,6	MCF-7	breast:
4	chr6:114417475..114418423-chr6:114429211..114429992,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228624	TF binding region
ENSG00000228624	Chromatin interaction
ENSG00000196591	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1914975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56949249	1.00[AMR][1000 genomes]
rs57486980	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57522583	1.00[AMR][1000 genomes]
rs57915453	1.00[AMR][1000 genomes]
rs59793284	1.00[AMR][1000 genomes]
rs60660289	1.00[AMR][1000 genomes]
rs61362321	1.00[AMR][1000 genomes]
rs73536639	1.00[AMR][1000 genomes]
rs73536640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536653	1.00[AMR][1000 genomes]
rs73536659	1.00[AMR][1000 genomes]
rs73536675	1.00[AMR][1000 genomes]
rs73538664	1.00[AMR][1000 genomes]
rs73538698	1.00[AMR][1000 genomes]
rs73540303	1.00[AMR][1000 genomes]
rs73540308	1.00[AMR][1000 genomes]
rs73540368	1.00[AMR][1000 genomes]
rs73540374	1.00[AMR][1000 genomes]
rs73540378	1.00[AMR][1000 genomes]
rs73542312	1.00[AMR][1000 genomes]
rs73542316	1.00[AMR][1000 genomes]
rs73542320	1.00[AMR][1000 genomes]
rs73542325	1.00[AMR][1000 genomes]
rs73542344	1.00[AMR][1000 genomes]
rs73542351	1.00[AMR][1000 genomes]
rs73542354	1.00[AMR][1000 genomes]
rs73542367	1.00[AMR][1000 genomes]
rs73542372	1.00[AMR][1000 genomes]
rs73542380	1.00[AMR][1000 genomes]
rs73542388	1.00[AMR][1000 genomes]
rs73552485	1.00[AMR][1000 genomes]
rs73554327	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73554333	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73554336	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73554340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73554343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73554345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7742088	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7742268	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7743447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7753692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7760107	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7762261	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024062	chr6:114311029-114679557	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114422200-114438800	Weak transcription	HSMM	muscle
2	chr6:114422600-114430000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:114424000-114436600	Weak transcription	HSMMtube	muscle
4	chr6:114425600-114443000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:114426000-114443200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:114429400-114429800	Active TSS	Brain Angular Gyrus	brain
7	chr6:114429400-114429800	Flanking Active TSS	Brain Anterior Caudate	brain
8	chr6:114429400-114429800	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr6:114429400-114429800	Active TSS	Brain Hippocampus Middle	brain
10	chr6:114429400-114429800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:114429400-114429800	Enhancers	Pancreas	Pancrea
12	chr6:114429400-114430000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:114429400-114430000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:114429400-114430000	Enhancers	Brain Substantia Nigra	brain
15	chr6:114429400-114430000	Enhancers	Stomach Mucosa	stomach
16	chr6:114429400-114430200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:114429600-114430200	Enhancers	HepG2	liver

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