Variant report

Variant	rs531043742
Chromosome Location	chr6:117802822-117802823
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:117802498-117802840	HepG2	liver:	n/a	n/a
2	MBD4	chr6:117802356-117803124	HepG2	liver:	n/a	n/a
3	ZEB1	chr6:117802335-117803996	HepG2	liver:	n/a	n/a
4	RAD21	chr6:117802774-117803088	SK-N-SH_RA	brain:	n/a	chr6:117802982-117802996
5	SP1	chr6:117802321-117802895	HepG2	liver:	n/a	chr6:117802628-117802642
6	POLR2A	chr6:117802510-117802911	HepG2	liver:	n/a	n/a
7	CTCF	chr6:117802760-117802910	HepG2	liver:	n/a	n/a
8	MYBL2	chr6:117802336-117804909	HepG2	liver:	n/a	n/a
9	UBTF	chr6:117802514-117802932	K562	blood:	n/a	n/a
10	EP300	chr6:117802617-117802943	K562	blood:	n/a	n/a
11	E2F4	chr6:117802715-117802915	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F6	chr6:117802498-117804805	K562	blood:	n/a	chr6:117803156-117803168 chr6:117804649-117804659 chr6:117804518-117804529 chr6:117803839-117803849
13	EP300	chr6:117802258-117802872	HepG2	liver:	n/a	chr6:117802524-117802538 chr6:117802518-117802532 chr6:117802504-117802514
14	POLR2A	chr6:117802818-117802847	HUVEC	blood vessel:	n/a	n/a
15	MAX	chr6:117802511-117803724	H1-hESC	embryonic stem cell:	n/a	n/a
16	RCOR1	chr6:117802541-117803080	HepG2	liver:	n/a	n/a
17	MAX	chr6:117802500-117803105	HepG2	liver:	n/a	n/a
18	MAZ	chr6:117802540-117804952	K562	blood:	n/a	n/a
19	MXI1	chr6:117802473-117805177	HepG2	liver:	n/a	n/a
20	MYC	chr6:117802686-117805224	K562	blood:	n/a	n/a
21	BHLHE40	chr6:117802467-117803168	HepG2	liver:	n/a	n/a
22	HNF4G	chr6:117802360-117802851	HepG2	liver:	n/a	n/a
23	CTBP2	chr6:117802734-117804761	H1-hESC	embryonic stem cell:	n/a	n/a
24	E2F6	chr6:117802405-117804887	H1-hESC	embryonic stem cell:	n/a	chr6:117803156-117803168 chr6:117804649-117804659 chr6:117804518-117804529 chr6:117803839-117803849
25	HEY1	chr6:117802398-117802899	HepG2	liver:	n/a	n/a
26	HEY1	chr6:117802535-117804976	HepG2	liver:	n/a	chr6:117803658-117803673
27	FOXA1	chr6:117802201-117802851	HepG2	liver:	n/a	n/a
28	POLR2A	chr6:117802530-117804840	HepG2	liver:	n/a	n/a
29	TBL1XR1	chr6:117802581-117802852	K562	blood:	n/a	n/a
30	MAX	chr6:117802516-117802926	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr6:117802338-117805250	HepG2	liver:	n/a	n/a
32	CREB1	chr6:117802394-117804854	HepG2	liver:	n/a	n/a
33	MYC	chr6:117802544-117805091	K562	blood:	n/a	n/a
34	BHLHE40	chr6:117802610-117802822	K562	blood:	n/a	n/a
35	TBP	chr6:117802535-117802904	HepG2	liver:	n/a	n/a
36	MYC	chr6:117802509-117802837	K562	blood:	n/a	n/a
37	FOXA1	chr6:117802363-117802874	HepG2	liver:	n/a	n/a
38	ZNF263	chr6:117802610-117805129	HEK293-T-REx	kidney:	n/a	chr6:117803607-117803616
39	CTCF	chr6:117802645-117802878	K562	blood:	n/a	n/a
40	TEAD4	chr6:117801774-117802940	HepG2	liver:	n/a	n/a
41	SMC3	chr6:117802608-117802920	HepG2	liver:	n/a	n/a
42	ELF1	chr6:117802452-117802840	HepG2	liver:	n/a	chr6:117802529-117802540
43	HDAC2	chr6:117802346-117802871	HepG2	liver:	n/a	chr6:117802518-117802532 chr6:117802532-117802546
44	MAX	chr6:117802478-117804814	H1-hESC	embryonic stem cell:	n/a	n/a
45	RCOR1	chr6:117802471-117804805	K562	blood:	n/a	n/a
46	MYBL2	chr6:117802302-117803912	HepG2	liver:	n/a	n/a
47	RCOR1	chr6:117802679-117803884	K562	blood:	n/a	n/a
48	FOXA1	chr6:117802251-117802873	HepG2	liver:	n/a	n/a
49	MAFK	chr6:117802486-117803357	HepG2	liver:	n/a	n/a
50	HDAC2	chr6:117802311-117802833	HepG2	liver:	n/a	chr6:117802518-117802532 chr6:117802532-117802546

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:117802786-117802836	Hepatocyte	liver:	n/a
2	chr6:117802786-117802836	RPTEC	kidney:	n/a
3	chr6:117802786-117802836	CMK	blood:	n/a
4	chr6:117802786-117802836	H1-hESC	embryonic stem cell:	embryo
5	chr6:117802786-117802836	SK-N-SH	brain:	n/a
6	chr6:117802786-117802836	HEK293	kidney:	embryo
7	chr6:117802786-117802836	GM06990	blood:	n/a
8	chr6:117802786-117802836	BE2_C	brain:	n/a
9	chr6:117802786-117802836	MCF-7	breast:	n/a
10	chr6:117802786-117802836	SK-N-SH_RA	brain:	n/a
11	chr6:117802786-117802836	HMEC	breast:	n/a
12	chr6:117802786-117802836	NH-A	brain:	n/a
13	chr6:117802786-117802836	Hela-S3	cervix:	n/a
14	chr6:117802786-117802836	AG09309	skin:	n/a
15	chr6:117802786-117802836	HL-60	blood:	n/a
16	chr6:117802786-117802836	HCT-116	colon:	n/a
17	chr6:117802786-117802836	SKMC	muscle:	n/a
18	chr6:117802786-117802836	SK-N-MC	brain:	n/a
19	chr6:117802786-117802836	GM12892	blood:	n/a
20	chr6:117802786-117802836	HUVEC	blood vessel:	n/a
21	chr6:117802786-117802836	PANC-1	pancreas:	n/a
22	chr6:117802786-117802836	HRCEpiC	kidney:	n/a
23	chr6:117802786-117802836	ovcar-3	ovarian:	n/a
24	chr6:117802786-117802836	PFSK-1	brain:	n/a
25	chr6:117802786-117802836	LNCaP	prostate:	n/a
26	chr6:117802786-117802836	T-47D	breast:	n/a
27	chr6:117802786-117802836	ProgFib	skin:	n/a
28	chr6:117802786-117802836	NHDF-neo	bronchial:	n/a
29	chr6:117802786-117802836	ECC-1	luminal epithelium:	n/a
30	chr6:117802786-117802836	AG04449	skin:	fetal
31	chr6:117802786-117802836	NHBE	bronchial:	n/a
32	chr6:117802786-117802836	A549	lung:	n/a
33	chr6:117802786-117802836	HPAEpiC	pulmonary alveolar:	n/a
34	chr6:117802786-117802836	AoSMC	blood vessel:	n/a
35	chr6:117802786-117802836	GM19239	blood:	n/a
36	chr6:117802786-117802836	Jurkat	blood:	n/a
37	chr6:117802786-117802836	HRE	kidney:	n/a
38	chr6:117802786-117802836	BJ	skin:	n/a
39	chr6:117802786-117802836	IMR90	lung:	fetal
40	chr6:117802786-117802836	HCF	heart:	n/a
41	chr6:117802786-117802836	AG10803	skin:	n/a
42	chr6:117802786-117802836	HRPEpiC	eye:	n/a
43	chr6:117802786-117802836	U87	brain:	n/a
44	chr6:117802786-117802836	K562	blood:	n/a
45	chr6:117802786-117802836	NB4	blood:	n/a
46	chr6:117802786-117802836	GM12878	blood:	n/a
47	chr6:117802786-117802836	HIPEpiC	eye:	n/a
48	chr6:117802786-117802836	HNPCEpiC	eye:	n/a
49	chr6:117802786-117802836	GM12891	blood:	n/a
50	chr6:117802786-117802836	HCPEpiC	choroid plexus:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:117802655..117804398-chr6:117864844..117866459,3	MCF-7	breast:
2	chr6:117802549..117804711-chr6:117824121..117828201,5	K562	blood:
3	chr6:101327181..101330084-chr6:117801293..117803939,2	K562	blood:
4	chr6:117798788..117807313-chr6:117921918..117925735,11	MCF-7	breast:
5	chr6:117802223..117804604-chr6:117922456..117924196,2	MCF-7	breast:

No data

Variant related genes	Relation type
DCBLD1	TF binding region
DCBLD1	CpG island
ENSG00000112249	Chromatin interaction
ENSG00000047932	Chromatin interaction
ENSG00000260000	Chromatin interaction
ENSG00000164465	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv3434198	chr6:117802809-117805457	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117799800-117803000	Weak transcription	Ovary	ovary
2	chr6:117800000-117803200	Weak transcription	HSMM	muscle
3	chr6:117800200-117803000	Weak transcription	NHDF-Ad	bronchial
4	chr6:117800200-117803200	Weak transcription	HSMMtube	muscle
5	chr6:117800200-117803400	Weak transcription	Small Intestine	intestine
6	chr6:117802200-117803200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:117802200-117803200	Enhancers	NHEK	skin
8	chr6:117802400-117803000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:117802400-117803000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
10	chr6:117802400-117803000	Enhancers	Stomach Mucosa	stomach
11	chr6:117802400-117803600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr6:117802400-117803800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr6:117802400-117806400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:117802600-117803000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr6:117802600-117803000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:117802600-117803000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr6:117802600-117803000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr6:117802600-117803000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:117802600-117803000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
20	chr6:117802600-117803000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:117802600-117803000	Bivalent Enhancer	Fetal Brain Male	brain
22	chr6:117802600-117803000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr6:117802600-117803200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:117802600-117803200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:117802600-117803200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:117802600-117803200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:117802600-117803200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:117802600-117803200	Enhancers	Placenta	Placenta
29	chr6:117802600-117803200	Enhancers	Left Ventricle	heart
30	chr6:117802600-117803200	Enhancers	HUVEC	blood vessel
31	chr6:117802600-117803400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:117802600-117803400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr6:117802600-117803400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:117802600-117803400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr6:117802600-117803400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
36	chr6:117802600-117803400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:117802600-117803400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr6:117802600-117803400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:117802600-117803400	Enhancers	Pancreas	Pancrea
40	chr6:117802600-117803400	Enhancers	Right Atrium	heart
41	chr6:117802600-117803400	Enhancers	Right Ventricle	heart
42	chr6:117802600-117803400	Enhancers	HMEC	breast
43	chr6:117802600-117803600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:117802600-117803600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:117802600-117803600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:117802600-117803600	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr6:117802600-117803600	Flanking Active TSS	GM12878-XiMat	blood
48	chr6:117802600-117803600	Flanking Bivalent TSS/Enh	HepG2	liver
49	chr6:117802600-117803600	Flanking Active TSS	K562	blood
50	chr6:117802600-117803800	Bivalent Enhancer	Fetal Thymus	thymus

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