Variant report

Variant	rs73747959
Chromosome Location	chr6:80713983-80713984
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	GTF2F1	chr6:80713901-80714830	Hela-S3	cervix:	n/a	n/a
2	NFIC	chr6:80713877-80714486	HepG2	liver:	n/a	n/a
3	MAX	chr6:80713709-80714446	HepG2	liver:	n/a	n/a
4	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
5	MAZ	chr6:80713727-80714825	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:80713420-80714719	HEK293	kidney:	n/a	n/a
7	MAZ	chr6:80713294-80715039	IMR90	lung:	n/a	chr6:80713708-80713718 chr6:80713594-80713603
8	KAP1	chr6:80713301-80715345	HEK293	kidney:	n/a	n/a
9	TBP	chr6:80713900-80714972	K562	blood:	n/a	n/a
10	POLR2A	chr6:80713836-80714719	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:80713741-80714601	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr6:80713261-80714856	GM19099	blood:	n/a	n/a
13	GABPA	chr6:80713747-80714643	MCF-7	breast:	n/a	chr6:80714450-80714464
14	BACH1	chr6:80713950-80714766	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr6:80713771-80714783	ECC-1	luminal epithelium:	n/a	n/a
16	CHD2	chr6:80713852-80714806	Hela-S3	cervix:	n/a	chr6:80714520-80714530
17	POLR2A	chr6:80713779-80714760	MCF-7	breast:	n/a	n/a
18	POLR2A	chr6:80713965-80714256	A549	lung:	n/a	n/a
19	SIN3A	chr6:80713506-80715180	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr6:80713926-80714154	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr6:80713970-80714488	HepG2	liver:	n/a	n/a
22	SIN3AK20	chr6:80713638-80714872	MCF-7	breast:	n/a	n/a
23	ELF1	chr6:80713933-80714797	MCF-7	breast:	n/a	n/a
24	POLR2A	chr6:80713388-80714834	HL-60	blood:	n/a	n/a
25	MAX	chr6:80713322-80714878	NB4	blood:	n/a	chr6:80713708-80713718 chr6:80713594-80713603
26	POLR2A	chr6:80713764-80714553	U87	brain:	n/a	n/a
27	MXI1	chr6:80713877-80714890	H1-hESC	embryonic stem cell:	n/a	n/a
28	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
29	POLR2A	chr6:80713516-80714697	PFSK-1	brain:	n/a	n/a
30	NR2F2	chr6:80713691-80714681	MCF-7	breast:	n/a	n/a
31	ELF1	chr6:80713868-80714833	HCT-116	colon:	n/a	n/a
32	EGR1	chr6:80713981-80714323	K562	blood:	n/a	n/a
33	POLR2A	chr6:80713786-80714811	K562	blood:	n/a	n/a
34	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
35	CHD1	chr6:80713626-80714116	GM12878	blood:	n/a	n/a
36	POLR2A	chr6:80713971-80714669	GM12891	blood:	n/a	n/a
37	CEBPB	chr6:80713789-80714088	A549	lung:	n/a	n/a
38	TCF12	chr6:80713826-80714767	ECC-1	luminal epithelium:	n/a	n/a
39	WRNIP1	chr6:80713199-80714075	GM12878	blood:	n/a	n/a
40	GABPA	chr6:80713667-80714576	SK-N-SH	brain:	n/a	chr6:80714450-80714464
41	TBP	chr6:80713976-80714925	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr6:80713765-80714464	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr6:80713764-80714541	U87	brain:	n/a	n/a
44	TCF12	chr6:80713763-80714738	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr6:80713036-80715077	GM12878	blood:	n/a	n/a
46	POLR2A	chr6:80713806-80714747	Hela-S3	cervix:	n/a	n/a
47	HDAC2	chr6:80713835-80714733	MCF-7	breast:	n/a	n/a
48	POLR2A	chr6:80713880-80714851	K562	blood:	n/a	n/a
49	ELF1	chr6:80713855-80714774	GM12878	blood:	n/a	n/a
50	POLR2A	chr6:80713906-80714767	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38375504..38376129-chr6:80713334..80714172,2	Hela-S3	cervix:
2	chr6:80656144..80658220-chr6:80712686..80714230,2	K562	blood:

Variant related genes	Relation type
TTK	TF binding region
ENSG00000171475	Chromatin interaction
ENSG00000118402	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10485141	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10485142	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs151655	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16891457	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17254348	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1927429	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2273753	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2295839	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3799493	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3799494	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3799495	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41463544	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs45437302	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs45452496	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4706825	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55892082	0.83[AFR][1000 genomes]
rs56970160	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57260355	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58056450	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58183467	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58898479	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59586645	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59990086	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60216617	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60336899	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73477925	0.92[EUR][1000 genomes]
rs73747925	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73747932	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73747936	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73747961	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73747963	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73747975	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73748000	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73750004	0.83[AFR][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	chr6:80712600-80714000	Flanking Active TSS	Dnd41	blood
2	chr6:80712600-80714600	Active TSS	Rectal Smooth Muscle	rectum
3	chr6:80713000-80714000	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr6:80713000-80714600	Active TSS	Brain Angular Gyrus	brain
5	chr6:80713200-80714000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:80713200-80714000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr6:80713200-80714000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:80713200-80714000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:80713200-80714000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:80713200-80714000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:80713200-80714000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr6:80713200-80714000	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr6:80713200-80714000	Flanking Active TSS	GM12878-XiMat	blood
14	chr6:80713200-80714000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr6:80713200-80714000	Flanking Active TSS	NHEK	skin
16	chr6:80713200-80714000	Flanking Active TSS	Osteobl	bone
17	chr6:80713200-80714200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:80713200-80714600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:80713200-80714600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:80713200-80714600	Active TSS	Brain Substantia Nigra	brain
21	chr6:80713200-80714600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr6:80713200-80715200	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr6:80713200-80715400	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr6:80713200-80715400	Active TSS	NHDF-Ad	bronchial
25	chr6:80713200-80715600	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr6:80713400-80714000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr6:80713400-80714000	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr6:80713400-80714000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:80713400-80714000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr6:80713400-80714000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr6:80713400-80714000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr6:80713400-80714000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:80713400-80714000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr6:80713400-80714000	Flanking Active TSS	Liver	Liver
35	chr6:80713400-80714000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr6:80713400-80714000	Flanking Active TSS	Hela-S3	cervix
37	chr6:80713400-80714000	Flanking Active TSS	HMEC	breast
38	chr6:80713400-80714000	Flanking Active TSS	HUVEC	blood vessel
39	chr6:80713400-80714000	Flanking Active TSS	NH-A	brain
40	chr6:80713400-80714400	Active TSS	Colonic Mucosa	Colon
41	chr6:80713400-80714400	Active TSS	Left Ventricle	heart
42	chr6:80713400-80714400	Active TSS	Right Atrium	heart
43	chr6:80713400-80714400	Active TSS	Right Ventricle	heart
44	chr6:80713400-80714600	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr6:80713400-80714600	Active TSS	Fetal Stomach	stomach
46	chr6:80713400-80714800	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr6:80713400-80714800	Bivalent/Poised TSS	HepG2	liver
48	chr6:80713400-80714800	Active TSS	HSMMtube	muscle
49	chr6:80713400-80715000	Active TSS	Fetal Brain Male	brain
50	chr6:80713400-80715000	Active TSS	Psoas Muscle	Psoas

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