Variant report

Variant	rs567999758
Chromosome Location	chr6:146055347-146055348
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:146055017-146057985	GM12878	blood:	n/a	n/a
2	KAP1	chr6:146055153-146056328	U2OS	brain:	n/a	n/a
3	RFX5	chr6:146054987-146055518	K562	blood:	n/a	n/a
4	MXI1	chr6:146054723-146057920	SK-N-SH	brain:	n/a	n/a
5	MYC	chr6:146054938-146057332	K562	blood:	n/a	chr6:146056754-146056763 chr6:146057245-146057254 chr6:146056754-146056761 chr6:146056752-146056765
6	KAP1	chr6:146054943-146057309	HEK293	kidney:	n/a	n/a
7	JUND	chr6:146054869-146057351	K562	blood:	n/a	chr6:146055673-146055685 chr6:146057214-146057223 chr6:146056635-146056644 chr6:146055049-146055057 chr6:146057235-146057249
8	E2F4	chr6:146054939-146055454	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr6:146055289-146058747	K562	blood:	n/a	n/a
10	IRF1	chr6:146055055-146057389	K562	blood:	n/a	chr6:146055792-146055802 chr6:146057291-146057305 chr6:146056929-146056943
11	FOS	chr6:146055049-146055391	MCF10A-Er-Src	breast:	n/a	chr6:146055049-146055057
12	TBL1XR1	chr6:146054850-146056528	K562	blood:	n/a	n/a
13	MAX	chr6:146055016-146057323	NB4	blood:	n/a	chr6:146056754-146056763 chr6:146057245-146057254 chr6:146056754-146056761 chr6:146056752-146056765
14	ZNF384	chr6:146054969-146057583	K562	blood:	n/a	n/a
15	POLR2A	chr6:146055006-146058050	K562	blood:	n/a	n/a
16	REST	chr6:146055016-146057505	H1-neurons	neurons:	n/a	chr6:146056304-146056317 chr6:146055098-146055106
17	KAP1	chr6:146055026-146055563	K562	blood:	n/a	n/a
18	EP300	chr6:146055196-146057453	K562	blood:	n/a	chr6:146056674-146056690 chr6:146055677-146055691 chr6:146056233-146056249 chr6:146056924-146056938 chr6:146056677-146056693 chr6:146055676-146055690 chr6:146056293-146056309 chr6:146056641-146056650 chr6:146056636-146056645 chr6:146055894-146055910 chr6:146057242-146057256
19	POLR2A	chr6:146055179-146057616	K562	blood:	n/a	n/a
20	POLR2A	chr6:146055161-146058357	IMR90	lung:	n/a	n/a
21	POLR2A	chr6:146055125-146055417	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr6:146055026-146057665	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr6:146054953-146057390	K562	blood:	n/a	n/a
24	EP300	chr6:146054936-146057380	GM12878	blood:	n/a	chr6:146056674-146056690 chr6:146055677-146055691 chr6:146056233-146056249 chr6:146056924-146056938 chr6:146056677-146056693 chr6:146055676-146055690 chr6:146056293-146056309 chr6:146056641-146056650 chr6:146056636-146056645 chr6:146055894-146055910 chr6:146057242-146057256
25	POLR2A	chr6:146055061-146058277	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr6:146055148-146057403	PBDE	blood:	n/a	n/a
27	POLR2A	chr6:146055049-146057737	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:146054764..146058281-chr6:146133205..146137397,13	MCF-7	breast:
2	chr6:146054881..146058754-chr6:146284576..146286666,3	K562	blood:
3	chr6:146054188..146056153-chr6:146627133..146629580,2	K562	blood:
4	chr6:146051601..146058492-chr6:146282422..146286666,8	K562	blood:
5	chr6:146023773..146025394-chr6:146054656..146056157,2	K562	blood:
6	chr6:146052168..146062191-chr6:146124046..146141258,59	K562	blood:
7	chr6:146047378..146061811-chr6:146118130..146137627,77	K562	blood:
8	chr6:146054743..146057884-chr6:146276241..146279001,3	K562	blood:

Variant related genes	Relation type
ENSG00000270638	TF binding region
ENSG00000146414	Chromatin interaction
ENSG00000235652	Chromatin interaction
ENSG00000118496	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	esv3424432	chr6:146041308-146057603	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3471925	chr6:146054784-146057832	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv3471926	chr6:146054784-146057832	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146026800-146055800	Weak transcription	Left Ventricle	heart
2	chr6:146050400-146055600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:146050600-146055800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:146051000-146055600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:146052800-146055600	Weak transcription	Aorta	Aorta
6	chr6:146052800-146055600	Weak transcription	Ovary	ovary
7	chr6:146052800-146055800	Weak transcription	Gastric	stomach
8	chr6:146054200-146055800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:146054200-146055800	Weak transcription	Esophagus	oesophagus
10	chr6:146054800-146055400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:146054800-146055400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr6:146054800-146055400	Flanking Active TSS	GM12878-XiMat	blood
13	chr6:146054800-146055400	Flanking Active TSS	K562	blood
14	chr6:146054800-146055600	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr6:146054800-146055600	Flanking Active TSS	Dnd41	blood
16	chr6:146054800-146056200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:146054800-146057800	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr6:146054800-146058400	Active TSS	Stomach Smooth Muscle	stomach
19	chr6:146055000-146055400	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr6:146055000-146055400	Enhancers	Brain Cingulate Gyrus	brain
21	chr6:146055000-146055400	Flanking Active TSS	Fetal Heart	heart
22	chr6:146055000-146055400	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr6:146055000-146055400	Flanking Active TSS	Fetal Intestine Small	intestine
24	chr6:146055000-146055400	Flanking Active TSS	Fetal Kidney	kidney
25	chr6:146055000-146055400	Enhancers	Fetal Lung	lung
26	chr6:146055000-146055400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr6:146055000-146055400	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr6:146055000-146055400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr6:146055000-146055400	Flanking Active TSS	HepG2	liver
30	chr6:146055000-146055400	Flanking Active TSS	NH-A	brain
31	chr6:146055000-146055600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:146055000-146055600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:146055000-146055600	Enhancers	Primary B cells from peripheral blood	blood
34	chr6:146055000-146055600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr6:146055000-146055600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:146055000-146055600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr6:146055000-146055600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr6:146055000-146055600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:146055000-146055600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr6:146055000-146055600	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr6:146055000-146055600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr6:146055000-146055600	Flanking Active TSS	Fetal Brain Male	brain
43	chr6:146055000-146055600	Flanking Active TSS	A549	lung
44	chr6:146055000-146055800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr6:146055000-146055800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr6:146055000-146055800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr6:146055000-146055800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr6:146055000-146056000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:146055000-146057200	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr6:146055000-146057200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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