Variant report

Variant	rs45437302
Chromosome Location	chr6:80714192-80714193
allele	C/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	YY1	chr6:80714184-80714533	HepG2	liver:	n/a	n/a
2	GTF2F1	chr6:80713901-80714830	Hela-S3	cervix:	n/a	n/a
3	NFIC	chr6:80713877-80714486	HepG2	liver:	n/a	n/a
4	YY1	chr6:80714156-80714621	SK-N-SH_RA	brain:	n/a	n/a
5	MAX	chr6:80713709-80714446	HepG2	liver:	n/a	n/a
6	SP1	chr6:80713806-80714865	HCT-116	colon:	n/a	chr6:80714653-80714663 chr6:80714513-80714525 chr6:80714050-80714059 chr6:80714259-80714273 chr6:80714241-80714250 chr6:80714576-80714585 chr6:80714262-80714274 chr6:80714575-80714587 chr6:80714514-80714524 chr6:80714515-80714524 chr6:80714572-80714586 chr6:80714513-80714525 chr6:80714510-80714524 chr6:80714653-80714663 chr6:80714326-80714347
7	MAZ	chr6:80713727-80714825	GM12878	blood:	n/a	n/a
8	GABPA	chr6:80714118-80714372	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:80713420-80714719	HEK293	kidney:	n/a	n/a
10	MAZ	chr6:80713294-80715039	IMR90	lung:	n/a	chr6:80713708-80713718 chr6:80713594-80713603
11	KAP1	chr6:80713301-80715345	HEK293	kidney:	n/a	n/a
12	SIN3AK20	chr6:80714073-80714887	PFSK-1	brain:	n/a	n/a
13	GTF2F1	chr6:80714131-80714608	H1-hESC	embryonic stem cell:	n/a	n/a
14	TBP	chr6:80713900-80714972	K562	blood:	n/a	n/a
15	POLR2A	chr6:80713836-80714719	GM12878	blood:	n/a	n/a
16	POLR2A	chr6:80713741-80714601	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr6:80713261-80714856	GM19099	blood:	n/a	n/a
18	GABPA	chr6:80713747-80714643	MCF-7	breast:	n/a	chr6:80714450-80714464
19	ELF1	chr6:80714057-80714646	K562	blood:	n/a	n/a
20	BACH1	chr6:80713950-80714766	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr6:80713771-80714783	ECC-1	luminal epithelium:	n/a	n/a
22	CHD2	chr6:80713852-80714806	Hela-S3	cervix:	n/a	chr6:80714520-80714530
23	POLR2A	chr6:80713779-80714760	MCF-7	breast:	n/a	n/a
24	POLR2A	chr6:80713965-80714256	A549	lung:	n/a	n/a
25	YY1	chr6:80713985-80714668	GM12878	blood:	n/a	n/a
26	SIN3A	chr6:80713506-80715180	H1-hESC	embryonic stem cell:	n/a	n/a
27	NR2F2	chr6:80714015-80714919	K562	blood:	n/a	n/a
28	CREB1	chr6:80714100-80714461	A549	lung:	n/a	n/a
29	POLR2A	chr6:80713970-80714488	HepG2	liver:	n/a	n/a
30	SIN3AK20	chr6:80713638-80714872	MCF-7	breast:	n/a	n/a
31	ELF1	chr6:80713933-80714797	MCF-7	breast:	n/a	n/a
32	POLR2A	chr6:80713388-80714834	HL-60	blood:	n/a	n/a
33	MAX	chr6:80713322-80714878	NB4	blood:	n/a	chr6:80713708-80713718 chr6:80713594-80713603
34	POLR2A	chr6:80713764-80714553	U87	brain:	n/a	n/a
35	MXI1	chr6:80713877-80714890	H1-hESC	embryonic stem cell:	n/a	n/a
36	NFYB	chr6:80713947-80714836	K562	blood:	n/a	chr6:80714285-80714300 chr6:80714325-80714340 chr6:80714325-80714340 chr6:80714325-80714339 chr6:80714290-80714300 chr6:80714322-80714337
37	POLR2A	chr6:80714001-80714559	GM12892	blood:	n/a	n/a
38	POLR2A	chr6:80713516-80714697	PFSK-1	brain:	n/a	n/a
39	NFYB	chr6:80714070-80714693	GM12878	blood:	n/a	chr6:80714285-80714300 chr6:80714325-80714340 chr6:80714325-80714340 chr6:80714325-80714339 chr6:80714290-80714300 chr6:80714322-80714337
40	NR2F2	chr6:80713691-80714681	MCF-7	breast:	n/a	n/a
41	ELF1	chr6:80713868-80714833	HCT-116	colon:	n/a	n/a
42	EGR1	chr6:80713981-80714323	K562	blood:	n/a	n/a
43	POLR2A	chr6:80713786-80714811	K562	blood:	n/a	n/a
44	SP1	chr6:80713962-80714775	H1-hESC	embryonic stem cell:	n/a	chr6:80714653-80714663 chr6:80714513-80714525 chr6:80714050-80714059 chr6:80714259-80714273 chr6:80714241-80714250 chr6:80714576-80714585 chr6:80714262-80714274 chr6:80714575-80714587 chr6:80714514-80714524 chr6:80714515-80714524 chr6:80714572-80714586 chr6:80714513-80714525 chr6:80714510-80714524 chr6:80714653-80714663 chr6:80714326-80714347
45	POLR2A	chr6:80713971-80714669	GM12891	blood:	n/a	n/a
46	TCF12	chr6:80713826-80714767	ECC-1	luminal epithelium:	n/a	n/a
47	HCFC1	chr6:80714049-80714774	K562	blood:	n/a	n/a
48	BRCA1	chr6:80714049-80714613	Hela-S3	cervix:	n/a	n/a
49	GABPA	chr6:80713667-80714576	SK-N-SH	brain:	n/a	chr6:80714450-80714464
50	TBP	chr6:80713976-80714925	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:80714156-80714206	U87	brain:	n/a
2	chr6:80714156-80714206	GM12891	blood:	n/a
3	chr6:80714156-80714206	MCF-7	breast:	n/a
4	chr6:80714171-80714221	AG04449	skin:	fetal
5	chr6:80714156-80714206	HAEpiC	amniotic membrane:	n/a
6	chr6:80714171-80714221	NH-A	brain:	n/a
7	chr6:80714164-80714214	NHDF-neo	bronchial:	n/a
8	chr6:80714164-80714214	HIPEpiC	eye:	n/a
9	chr6:80714156-80714206	HNPCEpiC	eye:	n/a
10	chr6:80714171-80714221	HNPCEpiC	eye:	n/a
11	chr6:80714164-80714214	ovcar-3	ovarian:	n/a
12	chr6:80714164-80714214	HCPEpiC	choroid plexus:	n/a
13	chr6:80714171-80714221	SKMC	muscle:	n/a
14	chr6:80714171-80714221	Hepatocyte	liver:	n/a
15	chr6:80714156-80714206	SK-N-SH	brain:	n/a
16	chr6:80714164-80714214	ProgFib	skin:	n/a
17	chr6:80714164-80714214	HL-60	blood:	n/a
18	chr6:80714171-80714221	HUVEC	blood vessel:	n/a
19	chr6:80714156-80714206	ProgFib	skin:	n/a
20	chr6:80714171-80714221	Jurkat	blood:	n/a
21	chr6:80714164-80714214	HEEpiC	esophagus:	n/a
22	chr6:80714156-80714206	AG04450	lung:	fetal
23	chr6:80714171-80714221	GM12892	blood:	n/a
24	chr6:80714156-80714206	ECC-1	luminal epithelium:	n/a
25	chr6:80714171-80714221	MCF-7	breast:	n/a
26	chr6:80714171-80714221	HepG2	liver:	n/a
27	chr6:80714171-80714221	AG09319	gingival:	n/a
28	chr6:80714164-80714214	GM19239	blood:	n/a
29	chr6:80714164-80714214	PrEC	prostate:	n/a
30	chr6:80714164-80714214	HCF	heart:	n/a
31	chr6:80714164-80714214	SK-N-MC	brain:	n/a
32	chr6:80714164-80714214	HCT-116	colon:	n/a
33	chr6:80714171-80714221	HPAEpiC	pulmonary alveolar:	n/a
34	chr6:80714156-80714206	NT2-D1	testis:	n/a
35	chr6:80714164-80714214	PANC-1	pancreas:	n/a
36	chr6:80714156-80714206	K562	blood:	n/a
37	chr6:80714171-80714221	NB4	blood:	n/a
38	chr6:80714164-80714214	NT2-D1	testis:	n/a
39	chr6:80714156-80714206	H1-hESC	embryonic stem cell:	embryo
40	chr6:80714171-80714221	BJ	skin:	n/a
41	chr6:80714156-80714206	GM06990	blood:	n/a
42	chr6:80714164-80714214	SK-N-SH	brain:	n/a
43	chr6:80714171-80714221	MCF10A-Er-Src	breast:	n/a
44	chr6:80714171-80714221	ovcar-3	ovarian:	n/a
45	chr6:80714164-80714214	Hela-S3	cervix:	n/a
46	chr6:80714156-80714206	GM19239	blood:	n/a
47	chr6:80714171-80714221	GM06990	blood:	n/a
48	chr6:80714156-80714206	SKMC	muscle:	n/a
49	chr6:80714164-80714214	NHBE	bronchial:	n/a
50	chr6:80714156-80714206	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80656144..80658220-chr6:80712686..80714230,2	K562	blood:

Variant related genes	Relation type
TTK	TF binding region
TTK	CpG island
ENSG00000118402	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10485141	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10485142	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs151655	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16891457	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17254348	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1927429	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2273753	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2295839	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799493	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3799494	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3799495	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41463544	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs45452496	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4706825	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56970160	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57260355	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58056450	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58183467	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58898479	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59586645	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59990086	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60216617	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60336899	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73477925	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73747925	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73747932	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73747936	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73747959	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73747961	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73747963	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73747975	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73748000	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80712600-80714600	Active TSS	Rectal Smooth Muscle	rectum
2	chr6:80713000-80714600	Active TSS	Brain Angular Gyrus	brain
3	chr6:80713200-80714200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:80713200-80714600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:80713200-80714600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:80713200-80714600	Active TSS	Brain Substantia Nigra	brain
7	chr6:80713200-80714600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr6:80713200-80715200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr6:80713200-80715400	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr6:80713200-80715400	Active TSS	NHDF-Ad	bronchial
11	chr6:80713200-80715600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr6:80713400-80714400	Active TSS	Colonic Mucosa	Colon
13	chr6:80713400-80714400	Active TSS	Left Ventricle	heart
14	chr6:80713400-80714400	Active TSS	Right Atrium	heart
15	chr6:80713400-80714400	Active TSS	Right Ventricle	heart
16	chr6:80713400-80714600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr6:80713400-80714600	Active TSS	Fetal Stomach	stomach
18	chr6:80713400-80714800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr6:80713400-80714800	Bivalent/Poised TSS	HepG2	liver
20	chr6:80713400-80714800	Active TSS	HSMMtube	muscle
21	chr6:80713400-80715000	Active TSS	Fetal Brain Male	brain
22	chr6:80713400-80715000	Active TSS	Psoas Muscle	Psoas
23	chr6:80713400-80715200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr6:80713400-80715200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:80713400-80715200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:80713400-80715200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:80713400-80715200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:80713400-80715400	Active TSS	Fetal Intestine Large	intestine
29	chr6:80713400-80715600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:80713400-80715800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:80713400-80715800	Active TSS	A549	lung
32	chr6:80713400-80717200	Active TSS	Thymus	Thymus
33	chr6:80713600-80714200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr6:80713600-80714600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:80713600-80714600	Active TSS	Primary T cells from cord blood	blood
36	chr6:80713600-80714600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:80713600-80714600	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr6:80713600-80714600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr6:80713600-80714600	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr6:80713600-80714600	Active TSS	Brain Anterior Caudate	brain
41	chr6:80713600-80714600	Active TSS	Brain Germinal Matrix	brain
42	chr6:80713600-80714600	Active TSS	Brain Hippocampus Middle	brain
43	chr6:80713600-80714600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:80713600-80714600	Active TSS	Colon Smooth Muscle	Colon
45	chr6:80713600-80714600	Active TSS	Fetal Brain Female	brain
46	chr6:80713600-80714600	Active TSS	Fetal Kidney	kidney
47	chr6:80713600-80714600	Active TSS	Gastric	stomach
48	chr6:80713600-80714600	Active TSS	Placenta Amnion	Placenta Amnion
49	chr6:80713600-80714800	Active TSS	Aorta	Aorta
50	chr6:80713600-80714800	Active TSS	Fetal Heart	heart

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