Variant report

Variant	rs543063862
Chromosome Location	chr6:45389547-45389548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:188)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:188 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr6:45389137-45389753	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr6:45389403-45390492	Hela-S3	cervix:	n/a	n/a
3	ZNF263	chr6:45389303-45390284	HEK293-T-REx	kidney:	n/a	n/a
4	CTCF	chr6:45389400-45389550	HPF	lung:	n/a	n/a
5	CTCF	chr6:45389384-45389636	MCF-7	breast:	n/a	n/a
6	CTCF	chr6:45389407-45389614	MCF-7	breast:	n/a	n/a
7	CTCF	chr6:45389408-45389576	K562	blood:	n/a	n/a
8	CTCF	chr6:45389420-45389570	SAEC	small airway:	n/a	n/a
9	EP300	chr6:45389200-45391505	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr6:45389420-45389570	HVMF	connective:	n/a	n/a
11	CTCF	chr6:45389460-45389610	RPTEC	kidney:	n/a	n/a
12	RAD21	chr6:45389435-45389581	K562	blood:	n/a	n/a
13	MAZ	chr6:45389117-45390768	Hela-S3	cervix:	n/a	chr6:45389137-45389147
14	MAX	chr6:45389287-45390097	K562	blood:	n/a	n/a
15	RAD21	chr6:45389183-45389768	HCT-116	colon:	n/a	n/a
16	MAX	chr6:45389245-45390616	A549	lung:	n/a	n/a
17	CTCF	chr6:45389420-45389570	AG04449	skin:	n/a	n/a
18	TCF7L2	chr6:45389467-45390734	HCT-116	colon:	n/a	n/a
19	CTCF	chr6:45389400-45389550	AoAF	blood vessel:	n/a	n/a
20	HMGN3	chr6:45389378-45390828	K562	blood:	n/a	n/a
21	POLR2A	chr6:45389321-45389775	U87	brain:	n/a	n/a
22	CTCF	chr6:45389500-45389650	K562	blood:	n/a	n/a
23	CTCF	chr6:45389440-45389590	NHDF-neo	bronchial:	n/a	n/a
24	RAD21	chr6:45389424-45389619	GM12878	blood:	n/a	n/a
25	ZNF143	chr6:45389419-45389678	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr6:45389400-45389550	HCFaa	heart:	n/a	n/a
27	CTCF	chr6:45389400-45389550	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr6:45389440-45389590	NB4	blood:	n/a	n/a
29	CTCF	chr6:45389440-45389590	BJ	skin:	n/a	n/a
30	KAP1	chr6:45389300-45389605	HEK293	kidney:	n/a	n/a
31	CTCF	chr6:45389400-45389550	HA-sp	spinal cord:	n/a	n/a
32	E2F6	chr6:45389325-45390239	K562	blood:	n/a	n/a
33	CTCF	chr6:45389480-45389630	SAEC	small airway:	n/a	n/a
34	CTCF	chr6:45389420-45389570	HMEC	breast:	n/a	n/a
35	CTCF	chr6:45389440-45389590	NHLF	lung:	n/a	n/a
36	RAD21	chr6:45389305-45389643	HepG2	liver:	n/a	n/a
37	MAX	chr6:45389313-45391254	NB4	blood:	n/a	n/a
38	RAD21	chr6:45388419-45392074	IMR90	lung:	n/a	chr6:45391794-45391808 chr6:45392039-45392052 chr6:45390904-45390916 chr6:45390740-45390753 chr6:45391581-45391591 chr6:45388466-45388478
39	POLR2A	chr6:45389182-45392710	HL-60	blood:	n/a	n/a
40	BHLHE40	chr6:45389445-45389960	K562	blood:	n/a	n/a
41	MAX	chr6:45389076-45389699	SK-N-SH	brain:	n/a	chr6:45389137-45389147
42	CTCF	chr6:45389389-45389595	GM12891	blood:	n/a	n/a
43	RAD21	chr6:45389242-45390204	MCF-7	breast:	n/a	n/a
44	CTCF	chr6:45389540-45389690	NHDF-neo	bronchial:	n/a	n/a
45	MAX	chr6:45389170-45390213	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr6:45389134-45390316	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr6:45389500-45389650	HFF-Myc	foreskin:	n/a	n/a
48	POLR2A	chr6:45389166-45392571	HL-60	blood:	n/a	n/a
49	CTCF	chr6:45389400-45389550	GM12864	blood:	n/a	n/a
50	CTCF	chr6:45389440-45389590	HRPEpiC	eye:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:45389535-45389585	CMK	blood:	n/a
2	chr6:45389535-45389585	HCF	heart:	n/a
3	chr6:45389535-45389585	BE2_C	brain:	n/a
4	chr6:45389535-45389585	NHDF-neo	bronchial:	n/a
5	chr6:45389535-45389585	AG04450	lung:	fetal
6	chr6:45389535-45389585	HCM	heart:	n/a
7	chr6:45389535-45389585	HCT-116	colon:	n/a
8	chr6:45389535-45389585	BJ	skin:	n/a
9	chr6:45389535-45389585	GM06990	blood:	n/a
10	chr6:45389535-45389585	HMEC	breast:	n/a
11	chr6:45389535-45389585	SK-N-SH_RA	brain:	n/a
12	chr6:45389535-45389585	T-47D	breast:	n/a
13	chr6:45389535-45389585	A549	lung:	n/a
14	chr6:45389535-45389585	LNCaP	prostate:	n/a
15	chr6:45389535-45389585	ovcar-3	ovarian:	n/a
16	chr6:45389535-45389585	NH-A	brain:	n/a
17	chr6:45389535-45389585	HepG2	liver:	n/a
18	chr6:45389535-45389585	AoSMC	blood vessel:	n/a
19	chr6:45389535-45389585	U87	brain:	n/a
20	chr6:45389535-45389585	H1-hESC	embryonic stem cell:	embryo
21	chr6:45389535-45389585	MCF-7	breast:	n/a
22	chr6:45389535-45389585	GM12892	blood:	n/a
23	chr6:45389535-45389585	AG04449	skin:	fetal
24	chr6:45389535-45389585	NB4	blood:	n/a
25	chr6:45389535-45389585	Jurkat	blood:	n/a
26	chr6:45389535-45389585	Caco-2	colon:	n/a
27	chr6:45389535-45389585	IMR90	lung:	fetal
28	chr6:45389535-45389585	Hela-S3	cervix:	n/a
29	chr6:45389535-45389585	PFSK-1	brain:	n/a
30	chr6:45389535-45389585	AG10803	skin:	n/a
31	chr6:45389535-45389585	K562	blood:	n/a
32	chr6:45389535-45389585	ECC-1	luminal epithelium:	n/a
33	chr6:45389535-45389585	GM12891	blood:	n/a
34	chr6:45389535-45389585	ProgFib	skin:	n/a
35	chr6:45389535-45389585	HEEpiC	esophagus:	n/a
36	chr6:45389535-45389585	NHBE	bronchial:	n/a
37	chr6:45389535-45389585	HRPEpiC	eye:	n/a
38	chr6:45389535-45389585	HIPEpiC	eye:	n/a
39	chr6:45389535-45389585	HRCEpiC	kidney:	n/a
40	chr6:45389535-45389585	SK-N-SH	brain:	n/a
41	chr6:45389535-45389585	SAEC	small airway:	n/a
42	chr6:45389535-45389585	SKMC	muscle:	n/a
43	chr6:45389535-45389585	NT2-D1	testis:	n/a
44	chr6:45389535-45389585	GM19239	blood:	n/a
45	chr6:45389535-45389585	PrEC	prostate:	n/a
46	chr6:45389535-45389585	SK-N-MC	brain:	n/a
47	chr6:45389535-45389585	AG09309	skin:	n/a
48	chr6:45389535-45389585	HL-60	blood:	n/a
49	chr6:45389535-45389585	HNPCEpiC	eye:	n/a
50	chr6:45389535-45389585	HUVEC	blood vessel:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:45388588..45389630-chr6:45682064..45682718,3	MCF-7	breast:
2	chr6:45387795..45389727-chr6:45621998..45623537,2	MCF-7	breast:
3	chr6:45343131..45346998-chr6:45386286..45389886,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUPT3H-2	chr6:45388816-45389742	ENSG00000271857.1

No data

Variant related genes	Relation type
RUNX2	TF binding region
RUNX2	CpG island
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv3495915	chr6:45388574-45392472	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3495916	chr6:45388574-45392472	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45387000-45389800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr6:45387000-45391800	Bivalent Enhancer	Fetal Brain Male	brain
3	chr6:45387000-45392200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:45387200-45389600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
5	chr6:45387200-45389600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
6	chr6:45387200-45390800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
7	chr6:45387400-45389600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:45387400-45391000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
9	chr6:45387600-45389600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
10	chr6:45387800-45389600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr6:45387800-45390000	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr6:45388200-45389600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr6:45388200-45390800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
14	chr6:45388200-45391800	Active TSS	Ovary	ovary
15	chr6:45388200-45392000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:45388200-45392000	Active TSS	NHDF-Ad	bronchial
17	chr6:45388200-45392400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:45388400-45389600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:45388400-45393400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:45388600-45389600	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr6:45388600-45390000	Active TSS	Right Ventricle	heart
22	chr6:45388600-45390200	Active TSS	Right Atrium	heart
23	chr6:45388600-45390800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:45388600-45390800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr6:45388600-45390800	Active TSS	Small Intestine	intestine
26	chr6:45388600-45391000	Active TSS	Brain Angular Gyrus	brain
27	chr6:45388600-45391600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:45388600-45391800	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr6:45388600-45392000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
30	chr6:45388600-45392200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:45388600-45392800	Active TSS	HSMM	muscle
32	chr6:45388600-45393000	Active TSS	NHLF	lung
33	chr6:45388800-45389600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr6:45388800-45390000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:45388800-45390800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr6:45388800-45390800	Active TSS	Brain Anterior Caudate	brain
37	chr6:45388800-45391400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:45388800-45391800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:45388800-45391800	Active TSS	Muscle Satellite Cultured Cells	--
40	chr6:45388800-45392000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr6:45388800-45392400	Active TSS	HSMMtube	muscle
42	chr6:45389000-45389600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
43	chr6:45389000-45389600	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
44	chr6:45389000-45389600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
45	chr6:45389000-45389600	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
46	chr6:45389000-45389600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr6:45389000-45390400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:45389000-45391200	Active TSS	HMEC	breast
49	chr6:45389000-45391800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:45389000-45392200	Active TSS	Osteobl	bone

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