Variant report

Variant	rs73739754
Chromosome Location	chr6:27598764-27598765
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:166)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:166 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:27598633-27598820	GM12891	blood:	n/a	n/a
2	MAX	chr6:27598519-27599536	ECC-1	luminal epithelium:	n/a	chr6:27598758-27598768
3	CTCF	chr6:27598700-27598850	GM06990	blood:	n/a	n/a
4	CBX3	chr6:27598510-27599758	K562	blood:	n/a	n/a
5	POLR2A	chr6:27598578-27598944	H1-neurons	neurons:	n/a	n/a
6	REST	chr6:27598565-27598821	H1-hESC	embryonic stem cell:	n/a	chr6:27598755-27598768
7	MAX	chr6:27598404-27599417	K562	blood:	n/a	chr6:27598758-27598768
8	MYC	chr6:27598571-27599424	K562	blood:	n/a	chr6:27598758-27598768
9	POLR2A	chr6:27598682-27599324	K562	blood:	n/a	n/a
10	MYBL2	chr6:27598598-27599526	HepG2	liver:	n/a	n/a
11	CTCFL	chr6:27598594-27598793	K562	blood:	n/a	n/a
12	CTCF	chr6:27598640-27598790	GM12873	blood:	n/a	n/a
13	CEBPB	chr6:27598606-27599527	K562	blood:	n/a	chr6:27599205-27599216
14	CTCF	chr6:27598640-27598790	GM12864	blood:	n/a	n/a
15	CTCF	chr6:27598680-27598830	Caco-2	colon:	n/a	n/a
16	MAX	chr6:27598557-27599566	HCT-116	colon:	n/a	chr6:27598758-27598768
17	MYC	chr6:27598579-27599390	K562	blood:	n/a	chr6:27598758-27598768
18	MAX	chr6:27598532-27599483	A549	lung:	n/a	chr6:27598758-27598768
19	YY1	chr6:27598618-27598799	K562	blood:	n/a	chr6:27598713-27598727 chr6:27598764-27598775 chr6:27598770-27598784 chr6:27598770-27598779
20	CTCF	chr6:27598658-27598793	GM19238	blood:	n/a	n/a
21	CTCF	chr6:27598640-27598790	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr6:27598640-27598790	A549	lung:	n/a	n/a
23	ZNF263	chr6:27598286-27599888	HEK293-T-REx	kidney:	n/a	chr6:27599541-27599550 chr6:27598497-27598506
24	TEAD4	chr6:27598266-27599945	K562	blood:	n/a	n/a
25	MAX	chr6:27598441-27599589	A549	lung:	n/a	chr6:27598758-27598768
26	CTCF	chr6:27598640-27598790	HPF	lung:	n/a	n/a
27	CTCF	chr6:27598620-27598770	HBMEC	blood vessel:	n/a	n/a
28	MAX	chr6:27598594-27599321	K562	blood:	n/a	chr6:27598758-27598768
29	CREB1	chr6:27598607-27598964	A549	lung:	n/a	n/a
30	REST	chr6:27598548-27598784	H1-hESC	embryonic stem cell:	n/a	chr6:27598755-27598768
31	CBX3	chr6:27598653-27599580	HCT-116	colon:	n/a	n/a
32	MAX	chr6:27598486-27599481	ECC-1	luminal epithelium:	n/a	chr6:27598758-27598768
33	MAX	chr6:27598722-27599372	A549	lung:	n/a	chr6:27598758-27598768
34	NFIC	chr6:27598451-27599663	ECC-1	luminal epithelium:	n/a	n/a
35	ZNF384	chr6:27598743-27598783	K562	blood:	n/a	n/a
36	CTCF	chr6:27598699-27598771	GM12892	blood:	n/a	n/a
37	TEAD4	chr6:27598504-27599594	K562	blood:	n/a	n/a
38	CTCF	chr6:27598680-27598830	WERI-Rb-1	eye:	n/a	n/a
39	TRIM28	chr6:27598510-27599510	K562	blood:	n/a	n/a
40	CEBPD	chr6:27598497-27599467	K562	blood:	n/a	n/a
41	CTCF	chr6:27598660-27598810	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr6:27598660-27598810	HEK293	kidney:	n/a	n/a
43	CTCF	chr6:27598620-27598770	HEEpiC	esophagus:	n/a	n/a
44	CREB1	chr6:27598487-27599355	H1-hESC	embryonic stem cell:	n/a	n/a
45	ATF2	chr6:27598690-27599432	H1-hESC	embryonic stem cell:	n/a	n/a
46	REST	chr6:27598527-27599711	K562	blood:	n/a	chr6:27598755-27598768 chr6:27599105-27599118
47	CTCF	chr6:27598700-27598850	GM12868	blood:	n/a	n/a
48	CBX3	chr6:27598491-27599485	HCT-116	colon:	n/a	n/a
49	CTCF	chr6:27598660-27598810	GM12871	blood:	n/a	n/a
50	CTCF	chr6:27598620-27598770	HPF	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:27598733-27598783	AG04450	lung:	fetal
2	chr6:27598733-27598783	HMEC	breast:	n/a
3	chr6:27598733-27598783	GM19239	blood:	n/a
4	chr6:27598733-27598783	NH-A	brain:	n/a
5	chr6:27598733-27598783	MCF10A-Er-Src	breast:	n/a
6	chr6:27598733-27598783	AG09319	gingival:	n/a
7	chr6:27598733-27598783	PANC-1	pancreas:	n/a
8	chr6:27598733-27598783	HUVEC	blood vessel:	n/a
9	chr6:27598733-27598783	NT2-D1	testis:	n/a
10	chr6:27598733-27598783	PrEC	prostate:	n/a
11	chr6:27598733-27598783	AG09309	skin:	n/a
12	chr6:27598733-27598783	ECC-1	luminal epithelium:	n/a
13	chr6:27598733-27598783	ProgFib	skin:	n/a
14	chr6:27598733-27598783	HL-60	blood:	n/a
15	chr6:27598733-27598783	K562	blood:	n/a
16	chr6:27598733-27598783	Hela-S3	cervix:	n/a
17	chr6:27598733-27598783	Jurkat	blood:	n/a
18	chr6:27598733-27598783	SK-N-SH_RA	brain:	n/a
19	chr6:27598733-27598783	HNPCEpiC	eye:	n/a
20	chr6:27598733-27598783	AoSMC	blood vessel:	n/a
21	chr6:27598733-27598783	IMR90	lung:	fetal
22	chr6:27598733-27598783	NHDF-neo	bronchial:	n/a
23	chr6:27598733-27598783	HRE	kidney:	n/a
24	chr6:27598733-27598783	SK-N-SH	brain:	n/a
25	chr6:27598733-27598783	BE2_C	brain:	n/a
26	chr6:27598733-27598783	HPAEpiC	pulmonary alveolar:	n/a
27	chr6:27598733-27598783	HCM	heart:	n/a
28	chr6:27598733-27598783	GM12878	blood:	n/a
29	chr6:27598733-27598783	ovcar-3	ovarian:	n/a
30	chr6:27598733-27598783	RPTEC	kidney:	n/a
31	chr6:27598733-27598783	HAEpiC	amniotic membrane:	n/a
32	chr6:27598733-27598783	SKMC	muscle:	n/a
33	chr6:27598733-27598783	SK-N-MC	brain:	n/a
34	chr6:27598733-27598783	NB4	blood:	n/a
35	chr6:27598733-27598783	GM12891	blood:	n/a
36	chr6:27598733-27598783	LNCaP	prostate:	n/a
37	chr6:27598733-27598783	PFSK-1	brain:	n/a
38	chr6:27598733-27598783	HEK293	kidney:	embryo
39	chr6:27598733-27598783	HepG2	liver:	n/a
40	chr6:27598733-27598783	HCT-116	colon:	n/a
41	chr6:27598733-27598783	HIPEpiC	eye:	n/a
42	chr6:27598733-27598783	H1-hESC	embryonic stem cell:	embryo
43	chr6:27598733-27598783	HCPEpiC	choroid plexus:	n/a
44	chr6:27598733-27598783	T-47D	breast:	n/a
45	chr6:27598733-27598783	Caco-2	colon:	n/a
46	chr6:27598733-27598783	GM06990	blood:	n/a
47	chr6:27598733-27598783	A549	lung:	n/a
48	chr6:27598733-27598783	HEEpiC	esophagus:	n/a
49	chr6:27598733-27598783	MCF-7	breast:	n/a
50	chr6:27598733-27598783	HRPEpiC	eye:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:27591455..27593158-chr6:27596051..27599012,2	MCF-7	breast:
2	chr6:27596183..27599052-chr6:27654192..27655700,2	K562	blood:

No data

Variant related genes	Relation type
TRNAI6	TF binding region
TRNAI6	CpG island

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs55713702	0.81[AFR][1000 genomes]
rs55755099	0.81[AFR][1000 genomes]
rs56335858	0.87[AFR][1000 genomes]
rs56758520	0.93[AFR][1000 genomes]
rs61415880	0.93[AFR][1000 genomes]
rs73739178	0.81[AFR][1000 genomes]
rs73739180	0.81[AFR][1000 genomes]
rs73739182	0.87[AFR][1000 genomes]
rs73739184	0.81[AFR][1000 genomes]
rs73739185	0.93[AFR][1000 genomes]
rs73739187	0.93[AFR][1000 genomes]
rs73739190	0.93[AFR][1000 genomes]
rs73739751	0.81[AFR][1000 genomes]
rs73739753	0.83[AFR][1000 genomes]
rs73739755	0.83[AFR][1000 genomes]
rs73739769	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv1030256	chr6:27477726-27605842	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025862	chr6:27480227-27605321	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv1017347	chr6:27483816-27605842	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1025572	chr6:27487852-27604454	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv538167	chr6:27487852-27604454	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
10	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27598000-27599600	Active TSS	H1 Cell Line	embryonic stem cell
2	chr6:27598000-27599600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:27598000-27599600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr6:27598200-27598800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:27598200-27599200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:27598200-27599200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:27598200-27599400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:27598200-27599600	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr6:27598200-27599600	Bivalent/Poised TSS	Fetal Brain Female	brain
10	chr6:27598400-27598800	Bivalent Enhancer	Adipose Nuclei	Adipose
11	chr6:27598400-27598800	Bivalent Enhancer	Esophagus	oesophagus
12	chr6:27598400-27598800	Bivalent Enhancer	Fetal Brain Male	brain
13	chr6:27598400-27598800	Enhancers	Placenta	Placenta
14	chr6:27598400-27598800	Enhancers	Right Atrium	heart
15	chr6:27598400-27598800	Flanking Active TSS	GM12878-XiMat	blood
16	chr6:27598400-27598800	Flanking Active TSS	HMEC	breast
17	chr6:27598400-27599000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
18	chr6:27598400-27599000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
19	chr6:27598400-27599000	Active TSS	Brain Angular Gyrus	brain
20	chr6:27598400-27599000	Active TSS	Brain Anterior Caudate	brain
21	chr6:27598400-27599000	Bivalent Enhancer	Fetal Thymus	thymus
22	chr6:27598400-27599200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr6:27598400-27599200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:27598400-27599200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:27598400-27599200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
26	chr6:27598400-27599200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:27598400-27599200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
28	chr6:27598400-27599200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
29	chr6:27598400-27599200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
30	chr6:27598400-27599200	Enhancers	Gastric	stomach
31	chr6:27598400-27599200	Active TSS	A549	lung
32	chr6:27598400-27599200	Active TSS	HSMMtube	muscle
33	chr6:27598400-27599200	Flanking Active TSS	HUVEC	blood vessel
34	chr6:27598400-27599200	Active TSS	NH-A	brain
35	chr6:27598400-27599200	Active TSS	Osteobl	bone
36	chr6:27598400-27599400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:27598400-27599400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:27598400-27599400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:27598400-27599400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr6:27598400-27599400	Flanking Bivalent TSS/Enh	HepG2	liver
41	chr6:27598400-27599600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr6:27598400-27599600	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr6:27598400-27599800	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr6:27598400-27599800	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr6:27598600-27598800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:27598600-27598800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
47	chr6:27598600-27598800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
48	chr6:27598600-27598800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:27598600-27598800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:27598600-27598800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon

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