Variant report

Variant	rs556819880
Chromosome Location	chr6:33258322-33258323
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 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	chr6:33257960-33258385	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:33257101-33258647	HL-60	blood:	n/a	n/a
6	CCNT2	chr6:33258162-33258366	K562	blood:	n/a	n/a
7	POLR2A	chr6:33256748-33260558	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr6:33256261-33262240	K562	blood:	n/a	n/a
9	POLR2A	chr6:33257949-33258387	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:33256609-33259722	K562	blood:	n/a	n/a
11	PML	chr6:33256071-33258380	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:33256555-33258414	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr6:33257182-33258641	HCT-116	colon:	n/a	n/a
14	POLR2A	chr6:33258021-33261304	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:33256458-33262163	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr6:33256725-33258408	HepG2	liver:	n/a	n/a
17	POLR2A	chr6:33256661-33261506	K562	blood:	n/a	n/a
18	POLR2A	chr6:33256678-33258597	H1-hESC	embryonic stem cell:	n/a	n/a
19	MXI1	chr6:33255495-33258553	IMR90	lung:	n/a	chr6:33257880-33257889
20	POLR2A	chr6:33256719-33259141	HepG2	liver:	n/a	n/a
21	TEAD4	chr6:33256714-33258344	K562	blood:	n/a	n/a
22	POLR2A	chr6:33256816-33259377	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr6:33257846-33258470	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr6:33256674-33258542	K562	blood:	n/a	n/a
25	POLR2A	chr6:33256810-33260619	K562	blood:	n/a	n/a
26	POLR2A	chr6:33257977-33260000	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr6:33257896-33258542	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr6:33256569-33258431	GM12891	blood:	n/a	n/a
29	POLR2A	chr6:33257142-33258338	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:33256555-33258615	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:33256353-33258736	HL-60	blood:	n/a	n/a
32	POLR2A	chr6:33256676-33258561	GM12892	blood:	n/a	n/a
33	POLR2A	chr6:33258175-33258345	HepG2	liver:	n/a	n/a
34	POLR2A	chr6:33256867-33258435	PBDE	blood:	n/a	n/a
35	POLR2A	chr6:33256573-33259641	MCF-7	breast:	n/a	n/a
36	POLR2A	chr6:33256602-33258424	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:33256842-33262829	K562	blood:	n/a	n/a
38	POLR2A	chr6:33256598-33261687	GM12878	blood:	n/a	n/a
39	PML	chr6:33256644-33258400	K562	blood:	n/a	n/a
40	POLR2A	chr6:33256574-33258528	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr6:33256307-33259037	K562	blood:	n/a	n/a
42	POLR2A	chr6:33256550-33258503	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr6:33258252-33258878	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr6:33256873-33258351	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr6:33256606-33259470	SK-N-SH	brain:	n/a	n/a
46	MXI1	chr6:33255835-33258847	SK-N-SH	brain:	n/a	chr6:33257880-33257889

No data

(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
ENSG00000204228	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000232940	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000199036	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000204257	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:126 , 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	chr6:33256000-33258400	Active TSS	H1 Cell Line	embryonic stem cell
3	chr6:33256000-33258400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:33256000-33258600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:33256000-33258600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr6:33256200-33258400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:33256400-33258400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:33256400-33258600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr6:33256400-33258600	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr6:33256600-33258400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:33257400-33258400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr6:33257400-33258400	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr6:33257400-33258400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:33257400-33258400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:33257400-33258400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr6:33257600-33258400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr6:33257600-33258400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:33257600-33258400	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr6:33257600-33258400	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr6:33257600-33258400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr6:33257600-33258400	Flanking Active TSS	Colonic Mucosa	Colon
22	chr6:33257600-33258400	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr6:33257600-33258400	Flanking Active TSS	Fetal Brain Female	brain
24	chr6:33257600-33258400	Flanking Active TSS	Fetal Muscle Trunk	muscle
25	chr6:33257600-33258400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr6:33257600-33258400	Flanking Active TSS	Rectal Smooth Muscle	rectum
27	chr6:33257600-33258400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr6:33257600-33258400	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr6:33257600-33258400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr6:33257600-33258600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:33257600-33259000	Transcr. at gene 5' and 3'	Dnd41	blood
32	chr6:33257800-33258400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:33257800-33258400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:33257800-33258400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr6:33257800-33258400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr6:33257800-33258400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:33257800-33258400	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr6:33257800-33258400	Flanking Active TSS	Fetal Lung	lung
39	chr6:33257800-33258400	Flanking Active TSS	Pancreas	Pancrea
40	chr6:33257800-33258400	Flanking Active TSS	Thymus	Thymus
41	chr6:33257800-33258400	Flanking Active TSS	HSMM	muscle
42	chr6:33257800-33258400	Flanking Active TSS	HUVEC	blood vessel
43	chr6:33257800-33258600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:33257800-33258600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr6:33257800-33258600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:33257800-33258600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:33257800-33258600	Flanking Active TSS	NHLF	lung
48	chr6:33257800-33258600	Flanking Active TSS	Osteobl	bone
49	chr6:33258000-33258400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr6:33258000-33258400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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