Variant report

Variant	rs545673224
Chromosome Location	chr6:33258426-33258427
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33257990-33262052	K562	blood:	n/a	n/a
2	CBX3	chr6:33258090-33258502	K562	blood:	n/a	n/a
3	POLR2A	chr6:33256672-33259552	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr6:33257101-33258647	HL-60	blood:	n/a	n/a
5	POLR2A	chr6:33256748-33260558	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr6:33256261-33262240	K562	blood:	n/a	n/a
7	POLR2A	chr6:33256609-33259722	K562	blood:	n/a	n/a
8	POLR2A	chr6:33258360-33258642	HCT-116	colon:	n/a	n/a
9	POLR2A	chr6:33257182-33258641	HCT-116	colon:	n/a	n/a
10	POLR2A	chr6:33258021-33261304	HepG2	liver:	n/a	n/a
11	POLR2A	chr6:33256458-33262163	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr6:33256661-33261506	K562	blood:	n/a	n/a
13	POLR2A	chr6:33256678-33258597	H1-hESC	embryonic stem cell:	n/a	n/a
14	MXI1	chr6:33255495-33258553	IMR90	lung:	n/a	chr6:33257880-33257889
15	POLR2A	chr6:33256719-33259141	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:33256816-33259377	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr6:33257846-33258470	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr6:33256674-33258542	K562	blood:	n/a	n/a
19	POLR2A	chr6:33256810-33260619	K562	blood:	n/a	n/a
20	POLR2A	chr6:33257977-33260000	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr6:33257896-33258542	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr6:33256569-33258431	GM12891	blood:	n/a	n/a
23	POLR2A	chr6:33256555-33258615	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:33256353-33258736	HL-60	blood:	n/a	n/a
25	POLR2A	chr6:33256676-33258561	GM12892	blood:	n/a	n/a
26	POLR2A	chr6:33256867-33258435	PBDE	blood:	n/a	n/a
27	POLR2A	chr6:33256573-33259641	MCF-7	breast:	n/a	n/a
28	POLR2A	chr6:33256842-33262829	K562	blood:	n/a	n/a
29	POLR2A	chr6:33256598-33261687	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:33256574-33258528	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr6:33256307-33259037	K562	blood:	n/a	n/a
32	POLR2A	chr6:33256550-33258503	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr6:33258252-33258878	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr6:33256606-33259470	SK-N-SH	brain:	n/a	n/a
35	MXI1	chr6:33255835-33258847	SK-N-SH	brain:	n/a	chr6:33257880-33257889

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33258423-33258473	Hepatocyte	liver:	n/a
2	chr6:33258423-33258473	U87	brain:	n/a
3	chr6:33258423-33258473	SKMC	muscle:	n/a
4	chr6:33258423-33258473	HIPEpiC	eye:	n/a
5	chr6:33258423-33258473	HRE	kidney:	n/a
6	chr6:33258423-33258473	GM06990	blood:	n/a
7	chr6:33258423-33258473	HUVEC	blood vessel:	n/a
8	chr6:33258423-33258473	Caco-2	colon:	n/a
9	chr6:33258423-33258473	PANC-1	pancreas:	n/a
10	chr6:33258423-33258473	Hela-S3	cervix:	n/a
11	chr6:33258423-33258473	GM12878	blood:	n/a
12	chr6:33258423-33258473	HAEpiC	amniotic membrane:	n/a
13	chr6:33258423-33258473	NHBE	bronchial:	n/a
14	chr6:33258423-33258473	SK-N-MC	brain:	n/a
15	chr6:33258423-33258473	CMK	blood:	n/a
16	chr6:33258423-33258473	LNCaP	prostate:	n/a
17	chr6:33258423-33258473	AG10803	skin:	n/a
18	chr6:33258423-33258473	H1-hESC	embryonic stem cell:	embryo
19	chr6:33258423-33258473	HNPCEpiC	eye:	n/a
20	chr6:33258423-33258473	GM12892	blood:	n/a
21	chr6:33258423-33258473	K562	blood:	n/a
22	chr6:33258423-33258473	NHDF-neo	bronchial:	n/a
23	chr6:33258423-33258473	SK-N-SH_RA	brain:	n/a
24	chr6:33258423-33258473	T-47D	breast:	n/a
25	chr6:33258423-33258473	AG04450	lung:	fetal
26	chr6:33258423-33258473	HCPEpiC	choroid plexus:	n/a
27	chr6:33258423-33258473	AG04449	skin:	fetal
28	chr6:33258423-33258473	HRPEpiC	eye:	n/a
29	chr6:33258423-33258473	ECC-1	luminal epithelium:	n/a
30	chr6:33258423-33258473	MCF-7	breast:	n/a
31	chr6:33258423-33258473	ProgFib	skin:	n/a
32	chr6:33258423-33258473	GM12891	blood:	n/a
33	chr6:33258423-33258473	HEK293	kidney:	embryo
34	chr6:33258423-33258473	PFSK-1	brain:	n/a
35	chr6:33258423-33258473	Jurkat	blood:	n/a
36	chr6:33258423-33258473	SK-N-SH	brain:	n/a
37	chr6:33258423-33258473	NT2-D1	testis:	n/a
38	chr6:33258423-33258473	AG09309	skin:	n/a
39	chr6:33258423-33258473	HCF	heart:	n/a
40	chr6:33258423-33258473	HPAEpiC	pulmonary alveolar:	n/a
41	chr6:33258423-33258473	BE2_C	brain:	n/a
42	chr6:33258423-33258473	A549	lung:	n/a
43	chr6:33258423-33258473	HEEpiC	esophagus:	n/a
44	chr6:33258423-33258473	HRCEpiC	kidney:	n/a
45	chr6:33258423-33258473	GM19239	blood:	n/a
46	chr6:33258423-33258473	ovcar-3	ovarian:	n/a
47	chr6:33258423-33258473	AoSMC	blood vessel:	n/a
48	chr6:33258423-33258473	RPTEC	kidney:	n/a
49	chr6:33258423-33258473	PrEC	prostate:	n/a
50	chr6:33258423-33258473	HL-60	blood:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33215515..33217773-chr6:33257117..33258844,2	K562	blood:
2	chr6:32937120..32939036-chr6:33257083..33259939,2	MCF-7	breast:
3	chr6:33256522..33259302-chr6:33375799..33380992,5	MCF-7	breast:
4	chr12:120728485..120731088-chr6:33255818..33258567,3	MCF-7	breast:
5	chr6:33256540..33259907-chr6:33358017..33361464,3	MCF-7	breast:
6	chr6:33257633..33260307-chr6:33537052..33539891,2	K562	blood:
7	chr1:16840533..16841090-chr6:33258251..33259091,2	NB4	blood:
8	chr6:32934202..32936578-chr6:33256185..33258696,2	K562	blood:
9	chr6:33170950..33173180-chr6:33254762..33258714,3	K562	blood:
10	chr6:33256218..33259091-chr6:33279064..33284854,6	MCF-7	breast:
11	chr6:33255490..33258967-chr6:33375507..33378634,5	MCF-7	breast:
12	chr6:33173908..33176023-chr6:33257331..33259282,2	K562	blood:
13	chr6:33256889..33260224-chr6:33374160..33378303,4	K562	blood:

No data

Variant related genes	Relation type
WDR46	TF binding region
WDR46	CpG island
ENSG00000202538	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000232940	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000204257	Chromatin interaction
ENSG00000204228	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000199036	Chromatin interaction
ENSG00000237649	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830634	chr6:33161217-33330745	Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
3	esv3353999	chr6:33258174-33261772	Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33255800-33258800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr6:33256000-33258600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:33256000-33258600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr6:33256400-33258600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:33256400-33258600	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr6:33257600-33258600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:33257600-33259000	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr6:33257800-33258600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:33257800-33258600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr6:33257800-33258600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:33257800-33258600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:33257800-33258600	Flanking Active TSS	NHLF	lung
13	chr6:33257800-33258600	Flanking Active TSS	Osteobl	bone
14	chr6:33258000-33258600	Enhancers	Primary B cells from peripheral blood	blood
15	chr6:33258000-33258600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:33258000-33258600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:33258000-33258600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr6:33258000-33258600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:33258000-33258600	Flanking Active TSS	HMEC	breast
20	chr6:33258000-33258800	Genic enhancers	Primary T cells fromperipheralblood	blood
21	chr6:33258000-33258800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr6:33258000-33258800	Weak transcription	Ovary	ovary
23	chr6:33258000-33259000	Flanking Active TSS	GM12878-XiMat	blood
24	chr6:33258200-33258600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:33258200-33258600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
26	chr6:33258200-33258600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr6:33258200-33258600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr6:33258200-33258600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr6:33258200-33258600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:33258200-33258600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr6:33258200-33258600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr6:33258200-33258600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:33258200-33258600	Enhancers	Adipose Nuclei	Adipose
34	chr6:33258200-33258600	Enhancers	Brain Cingulate Gyrus	brain
35	chr6:33258200-33258600	Enhancers	Brain Substantia Nigra	brain
36	chr6:33258200-33258600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr6:33258200-33258600	Enhancers	Esophagus	oesophagus
38	chr6:33258200-33258600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr6:33258200-33258600	Enhancers	Fetal Heart	heart
40	chr6:33258200-33258600	Genic enhancers	Fetal Muscle Leg	muscle
41	chr6:33258200-33258600	Enhancers	Placenta	Placenta
42	chr6:33258200-33258600	Genic enhancers	Fetal Thymus	thymus
43	chr6:33258200-33258600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr6:33258200-33258600	Enhancers	Right Ventricle	heart
45	chr6:33258200-33258600	Transcr. at gene 5' and 3'	Hela-S3	cervix
46	chr6:33258200-33258600	Flanking Active TSS	HepG2	liver
47	chr6:33258200-33258600	Enhancers	HSMMtube	muscle
48	chr6:33258200-33258600	Transcr. at gene 5' and 3'	NHEK	skin
49	chr6:33258200-33258800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:33258200-33258800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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