Variant report

Variant	rs567346279
Chromosome Location	chr6:33259010-33259011
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 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	POLR2A	chr6:33258670-33259687	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr6:33256672-33259552	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr6:33256748-33260558	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr6:33256261-33262240	K562	blood:	n/a	n/a
6	POLR2A	chr6:33256609-33259722	K562	blood:	n/a	n/a
7	POLR2A	chr6:33258726-33259739	K562	blood:	n/a	n/a
8	POLR2A	chr6:33258021-33261304	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:33256458-33262163	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr6:33256661-33261506	K562	blood:	n/a	n/a
11	POLR2A	chr6:33256719-33259141	HepG2	liver:	n/a	n/a
12	POLR2A	chr6:33256816-33259377	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr6:33256810-33260619	K562	blood:	n/a	n/a
14	POLR2A	chr6:33257977-33260000	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr6:33258760-33260442	K562	blood:	n/a	n/a
16	POLR2A	chr6:33256573-33259641	MCF-7	breast:	n/a	n/a
17	POLR2A	chr6:33258866-33259033	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:33256842-33262829	K562	blood:	n/a	n/a
19	POLR2A	chr6:33256598-33261687	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:33258652-33259293	HCT-116	colon:	n/a	n/a
21	POLR2A	chr6:33256307-33259037	K562	blood:	n/a	n/a
22	POLR2A	chr6:33256606-33259470	SK-N-SH	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:32937120..32939036-chr6:33257083..33259939,2	MCF-7	breast:
2	chr6:33256522..33259302-chr6:33375799..33380992,5	MCF-7	breast:
3	chr6:33256540..33259907-chr6:33358017..33361464,3	MCF-7	breast:
4	chr6:33257633..33260307-chr6:33537052..33539891,2	K562	blood:
5	chr1:16840533..16841090-chr6:33258251..33259091,2	NB4	blood:
6	chr6:33256218..33259091-chr6:33279064..33284854,6	MCF-7	breast:
7	chr6:33173908..33176023-chr6:33257331..33259282,2	K562	blood:
8	chr6:33256889..33260224-chr6:33374160..33378303,4	K562	blood:
9	chr6:33258827..33261135-chr6:33395874..33397870,2	K562	blood:

No data

Variant related genes	Relation type
WDR46	TF binding region
ENSG00000204256	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000199036	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000231925	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33258200-33259400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:33258200-33259400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:33258200-33264800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:33258200-33265000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:33258200-33265200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:33258400-33259200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:33258400-33259200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:33258400-33259200	Weak transcription	Fetal Lung	lung
9	chr6:33258400-33259400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:33258400-33259400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:33258400-33259400	Weak transcription	Left Ventricle	heart
12	chr6:33258400-33259400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:33258400-33259400	Weak transcription	NH-A	brain
14	chr6:33258400-33259800	Weak transcription	Aorta	Aorta
15	chr6:33258400-33259800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:33258400-33260000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr6:33258400-33260200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:33258400-33261200	Strong transcription	Brain Angular Gyrus	brain
19	chr6:33258400-33264600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:33258400-33264800	Weak transcription	Stomach Mucosa	stomach
21	chr6:33258400-33265000	Weak transcription	Right Atrium	heart
22	chr6:33258600-33259200	Genic enhancers	Primary T cells from cord blood	blood
23	chr6:33258600-33259200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:33258600-33259200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:33258600-33259200	Weak transcription	Fetal Intestine Small	intestine
26	chr6:33258600-33259200	Weak transcription	Fetal Stomach	stomach
27	chr6:33258600-33259200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr6:33258600-33259200	Weak transcription	Psoas Muscle	Psoas
29	chr6:33258600-33259200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr6:33258600-33259200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
31	chr6:33258600-33259200	Genic enhancers	Hela-S3	cervix
32	chr6:33258600-33259200	Weak transcription	NHDF-Ad	bronchial
33	chr6:33258600-33259200	Genic enhancers	NHEK	skin
34	chr6:33258600-33259400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:33258600-33259400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr6:33258600-33259400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:33258600-33259400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr6:33258600-33259400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:33258600-33259400	Weak transcription	Brain Germinal Matrix	brain
40	chr6:33258600-33259400	Weak transcription	Esophagus	oesophagus
41	chr6:33258600-33259400	Weak transcription	Pancreas	Pancrea
42	chr6:33258600-33259400	Weak transcription	Right Ventricle	heart
43	chr6:33258600-33259400	Weak transcription	Thymus	Thymus
44	chr6:33258600-33261800	Strong transcription	Stomach Smooth Muscle	stomach
45	chr6:33258600-33262000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr6:33258600-33263400	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr6:33258600-33263800	Strong transcription	Fetal Thymus	thymus
48	chr6:33258600-33264400	Weak transcription	Fetal Heart	heart
49	chr6:33258600-33264400	Strong transcription	Fetal Intestine Large	intestine
50	chr6:33258600-33264600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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