Variant report

Variant	rs73524743
Chromosome Location	chr6:117926385-117926386
allele	A/G
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	chr6:117926381-117926718	HepG2	liver:	n/a	chr6:117926557-117926578 chr6:117926562-117926580
2	BRCA1	chr6:117926365-117926838	HepG2	liver:	n/a	n/a
3	CTCF	chr6:117926380-117926530	HFF-Myc	foreskin:	n/a	n/a
4	MXI1	chr6:117926285-117926667	GM12878	blood:	n/a	n/a
5	YY1	chr6:117926381-117926630	GM12878	blood:	n/a	n/a
6	RAD21	chr6:117926214-117926843	HCT-116	colon:	n/a	n/a
7	RAD21	chr6:117926281-117926868	A549	lung:	n/a	n/a
8	POU2F2	chr6:117926354-117926632	GM12878	blood:	n/a	chr6:117926488-117926498 chr6:117926490-117926497 chr6:117926487-117926500 chr6:117926489-117926499 chr6:117926489-117926497 chr6:117926489-117926499 chr6:117926484-117926502 chr6:117926487-117926498 chr6:117926488-117926500 chr6:117926482-117926503 chr6:117926489-117926498 chr6:117926486-117926501
9	MAFK	chr6:117926321-117926718	IMR90	lung:	n/a	n/a
10	SMC3	chr6:117926327-117926803	GM12878	blood:	n/a	n/a
11	RAD21	chr6:117926168-117926975	HCT-116	colon:	n/a	n/a
12	SMC3	chr6:117926249-117926967	SK-N-SH	brain:	n/a	n/a
13	CTCF	chr6:117926306-117926782	HepG2	liver:	n/a	chr6:117926557-117926578 chr6:117926562-117926580
14	CTCF	chr6:117926326-117927019	K562	blood:	n/a	chr6:117926557-117926578 chr6:117926562-117926580
15	RAD21	chr6:117926374-117926687	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr6:117926238-117926788	GM12878	blood:	n/a	chr6:117926557-117926578 chr6:117926562-117926580
17	CTCF	chr6:117926226-117926871	HCT-116	colon:	n/a	chr6:117926557-117926578 chr6:117926562-117926580
18	SMC3	chr6:117926338-117926728	K562	blood:	n/a	n/a
19	RAD21	chr6:117926332-117926793	HepG2	liver:	n/a	n/a
20	RAD21	chr6:117926275-117926749	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr6:117926247-117926688	A549	lung:	n/a	chr6:117926557-117926578 chr6:117926562-117926580
22	CTCF	chr6:117926260-117926410	NHEK	skin:	n/a	n/a
23	CTCF	chr6:117926361-117926857	MCF-7	breast:	n/a	chr6:117926557-117926578 chr6:117926562-117926580
24	TAL1	chr6:117926318-117926749	K562	blood:	n/a	chr6:117926563-117926578 chr6:117926563-117926578 chr6:117926563-117926578
25	RAD21	chr6:117926267-117926727	A549	lung:	n/a	n/a
26	RAD21	chr6:117926256-117926799	ECC-1	luminal epithelium:	n/a	n/a
27	IRF1	chr6:117926283-117926696	K562	blood:	n/a	n/a
28	CTCF	chr6:117926372-117926762	K562	blood:	n/a	chr6:117926557-117926578 chr6:117926562-117926580
29	RUNX3	chr6:117926192-117926659	GM12878	blood:	n/a	n/a
30	RAD21	chr6:117926232-117926829	MCF-7	breast:	n/a	n/a
31	RAD21	chr6:117926291-117926816	MCF-7	breast:	n/a	n/a
32	CTCF	chr6:117926346-117926835	IMR90	lung:	n/a	chr6:117926557-117926578 chr6:117926562-117926580
33	MAFK	chr6:117926333-117926861	K562	blood:	n/a	n/a
34	BCLAF1	chr6:117926218-117926637	GM12878	blood:	n/a	n/a
35	CTCF	chr6:117926251-117926859	MCF-7	breast:	n/a	chr6:117926557-117926578 chr6:117926562-117926580
36	CTCF	chr6:117926344-117926656	H1-hESC	embryonic stem cell:	n/a	chr6:117926557-117926578 chr6:117926562-117926580
37	RAD21	chr6:117926081-117926988	SK-N-SH	brain:	n/a	n/a
38	RCOR1	chr6:117926374-117926747	K562	blood:	n/a	n/a
39	RAD21	chr6:117926373-117926734	K562	blood:	n/a	n/a
40	SMC3	chr6:117926342-117926802	HepG2	liver:	n/a	n/a
41	CTCF	chr6:117926303-117926933	HCT-116	colon:	n/a	chr6:117926557-117926578 chr6:117926562-117926580
42	YY1	chr6:117926331-117926710	GM12878	blood:	n/a	n/a
43	BATF	chr6:117926230-117926604	GM12878	blood:	n/a	n/a
44	POU2F2	chr6:117926217-117926674	GM12891	blood:	n/a	chr6:117926488-117926498 chr6:117926490-117926497 chr6:117926487-117926500 chr6:117926489-117926499 chr6:117926489-117926497 chr6:117926489-117926499 chr6:117926484-117926502 chr6:117926487-117926498 chr6:117926488-117926500 chr6:117926482-117926503 chr6:117926489-117926498 chr6:117926486-117926501
45	RAD21	chr6:117926217-117926871	HepG2	liver:	n/a	n/a
46	CTCF	chr6:117926171-117927011	A549	lung:	n/a	chr6:117926557-117926578 chr6:117926562-117926580
47	ARID3A	chr6:117926315-117926800	HepG2	liver:	n/a	n/a
48	FOXA2	chr6:117926382-117926755	HepG2	liver:	n/a	n/a
49	RAD21	chr6:117926317-117926687	HepG2	liver:	n/a	n/a
50	RAD21	chr6:117926303-117926697	SK-N-SH_RA	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:117926360-117926410	AG04450	lung:	fetal
2	chr6:117926360-117926410	T-47D	breast:	n/a
3	chr6:117926360-117926410	AG10803	skin:	n/a
4	chr6:117926360-117926410	GM12891	blood:	n/a
5	chr6:117926360-117926410	MCF-7	breast:	n/a
6	chr6:117926360-117926410	MCF10A-Er-Src	breast:	n/a
7	chr6:117926360-117926410	NHDF-neo	bronchial:	n/a
8	chr6:117926360-117926410	SK-N-SH	brain:	n/a
9	chr6:117926360-117926410	HRPEpiC	eye:	n/a
10	chr6:117926360-117926410	HL-60	blood:	n/a
11	chr6:117926360-117926410	HAEpiC	amniotic membrane:	n/a
12	chr6:117926360-117926410	Hela-S3	cervix:	n/a
13	chr6:117926360-117926410	ECC-1	luminal epithelium:	n/a
14	chr6:117926360-117926410	GM06990	blood:	n/a
15	chr6:117926360-117926410	PFSK-1	brain:	n/a
16	chr6:117926360-117926410	BE2_C	brain:	n/a
17	chr6:117926360-117926410	NH-A	brain:	n/a
18	chr6:117926360-117926410	ovcar-3	ovarian:	n/a
19	chr6:117926360-117926410	NHBE	bronchial:	n/a
20	chr6:117926360-117926410	AG09309	skin:	n/a
21	chr6:117926360-117926410	CMK	blood:	n/a
22	chr6:117926360-117926410	K562	blood:	n/a
23	chr6:117926360-117926410	NB4	blood:	n/a
24	chr6:117926360-117926410	GM19239	blood:	n/a
25	chr6:117926360-117926410	HCT-116	colon:	n/a
26	chr6:117926360-117926410	SK-N-MC	brain:	n/a
27	chr6:117926360-117926410	HUVEC	blood vessel:	n/a
28	chr6:117926360-117926410	AoSMC	blood vessel:	n/a
29	chr6:117926360-117926410	NT2-D1	testis:	n/a
30	chr6:117926360-117926410	HIPEpiC	eye:	n/a
31	chr6:117926360-117926410	Caco-2	colon:	n/a
32	chr6:117926360-117926410	HEK293	kidney:	embryo
33	chr6:117926360-117926410	SAEC	small airway:	n/a
34	chr6:117926360-117926410	Jurkat	blood:	n/a
35	chr6:117926360-117926410	HCPEpiC	choroid plexus:	n/a
36	chr6:117926360-117926410	A549	lung:	n/a
37	chr6:117926360-117926410	GM12892	blood:	n/a
38	chr6:117926360-117926410	BJ	skin:	n/a
39	chr6:117926360-117926410	HepG2	liver:	n/a
40	chr6:117926360-117926410	RPTEC	kidney:	n/a
41	chr6:117926360-117926410	LNCaP	prostate:	n/a
42	chr6:117926360-117926410	HMEC	breast:	n/a
43	chr6:117926360-117926410	SK-N-SH_RA	brain:	n/a
44	chr6:117926360-117926410	HRCEpiC	kidney:	n/a
45	chr6:117926360-117926410	HNPCEpiC	eye:	n/a
46	chr6:117926360-117926410	AG09319	gingival:	n/a
47	chr6:117926360-117926410	ProgFib	skin:	n/a
48	chr6:117926360-117926410	HCM	heart:	n/a
49	chr6:117926360-117926410	HEEpiC	esophagus:	n/a
50	chr6:117926360-117926410	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:50999195..51000016-chr6:117926177..117926868,2	MCF-7	breast:
2	chr6:117799806..117802489-chr6:117925663..117927637,2	MCF-7	breast:
3	chr6:117926214..117926984-chr6:118150760..118151474,2	MCF-7	breast:
4	chr6:117770311..117771186-chr6:117926141..117926806,2	K562	blood:
5	chr6:117901608..117904180-chr6:117924058..117926949,2	K562	blood:
6	chr6:117720859..117721735-chr6:117926183..117926996,4	MCF-7	breast:
7	chr6:117803575..117805462-chr6:117921337..117926516,4	K562	blood:
8	chr6:117778670..117780280-chr6:117926024..117927756,2	K562	blood:
9	chr6:117926297..117927922-chr6:117929473..117932295,2	MCF-7	breast:
10	chr6:117803211..117805462-chr6:117921337..117926538,8	K562	blood:
11	chr6:117770749..117771581-chr6:117926153..117926842,2	MCF-7	breast:
12	chr6:117919854..117927630-chr6:117992313..117999313,9	K562	blood:
13	chr6:117666555..117667566-chr6:117926041..117927041,3	K562	blood:
14	chr6:117926104..117926701-chr6:117996102..117996771,2	MCF-7	breast:
15	chr6:117920370..117923452-chr6:117923960..117927734,3	MCF-7	breast:

Variant related genes	Relation type
GOPC	TF binding region
GOPC	CpG island
ENSG00000164465	Chromatin interaction
ENSG00000207461	Chromatin interaction
ENSG00000153989	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56784049	1.00[AFR][1000 genomes]
rs73516427	1.00[AFR][1000 genomes]
rs73516439	1.00[AFR][1000 genomes]
rs73516440	1.00[AFR][1000 genomes]
rs73524740	1.00[AFR][1000 genomes]
rs73528113	1.00[AFR][1000 genomes]
rs73528127	1.00[AFR][1000 genomes]
rs73551191	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	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117924600-117926400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr6:117924600-117928200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr6:117924600-117928400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr6:117924600-117933200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:117924800-117926800	Enhancers	GM12878-XiMat	blood
6	chr6:117924800-117928800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:117925000-117934600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:117925200-117926400	Weak transcription	K562	blood
9	chr6:117926000-117926600	Enhancers	A549	lung
10	chr6:117926000-117926600	Enhancers	Dnd41	blood
11	chr6:117926200-117926400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:117926200-117926400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:117926200-117926400	Enhancers	Stomach Mucosa	stomach
14	chr6:117926200-117926600	Enhancers	Primary B cells from peripheral blood	blood
15	chr6:117926200-117926600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr6:117926200-117926600	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr6:117926200-117926600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr6:117926200-117926800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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