Variant report

Variant	rs187371421
Chromosome Location	chr6:146055541-146055542
allele	C/G
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	EP300	chr6:146055391-146056057	K562	blood:	n/a	chr6:146055677-146055691 chr6:146055676-146055690 chr6:146055894-146055910
3	KAP1	chr6:146055153-146056328	U2OS	brain:	n/a	n/a
4	POLR2A	chr6:146055475-146057511	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYBL2	chr6:146055533-146056346	HepG2	liver:	n/a	n/a
6	ARID3A	chr6:146055459-146056158	K562	blood:	n/a	n/a
7	POLR2A	chr6:146055407-146057502	PFSK-1	brain:	n/a	n/a
8	MXI1	chr6:146054723-146057920	SK-N-SH	brain:	n/a	n/a
9	PML	chr6:146055539-146057424	K562	blood:	n/a	n/a
10	MYC	chr6:146054938-146057332	K562	blood:	n/a	chr6:146056754-146056763 chr6:146057245-146057254 chr6:146056754-146056761 chr6:146056752-146056765
11	MYC	chr6:146055513-146057004	H1-hESC	embryonic stem cell:	n/a	chr6:146056754-146056763 chr6:146056754-146056761 chr6:146056752-146056765
12	KAP1	chr6:146054943-146057309	HEK293	kidney:	n/a	n/a
13	JUND	chr6:146054869-146057351	K562	blood:	n/a	chr6:146055673-146055685 chr6:146057214-146057223 chr6:146056635-146056644 chr6:146055049-146055057 chr6:146057235-146057249
14	JUND	chr6:146055505-146057221	H1-hESC	embryonic stem cell:	n/a	chr6:146055673-146055685 chr6:146056635-146056644
15	POLR2A	chr6:146055289-146058747	K562	blood:	n/a	n/a
16	MYC	chr6:146055397-146057225	MCF10A-Er-Src	breast:	n/a	chr6:146056754-146056763 chr6:146056754-146056761 chr6:146056752-146056765
17	IRF1	chr6:146055055-146057389	K562	blood:	n/a	chr6:146055792-146055802 chr6:146057291-146057305 chr6:146056929-146056943
18	RCOR1	chr6:146055486-146057278	Hela-S3	cervix:	n/a	n/a
19	TBL1XR1	chr6:146054850-146056528	K562	blood:	n/a	n/a
20	MAX	chr6:146055016-146057323	NB4	blood:	n/a	chr6:146056754-146056763 chr6:146057245-146057254 chr6:146056754-146056761 chr6:146056752-146056765
21	MYC	chr6:146055405-146057389	K562	blood:	n/a	chr6:146056754-146056763 chr6:146057245-146057254 chr6:146056754-146056761 chr6:146056752-146056765
22	ZNF384	chr6:146054969-146057583	K562	blood:	n/a	n/a
23	POLR2A	chr6:146055006-146058050	K562	blood:	n/a	n/a
24	REST	chr6:146055016-146057505	H1-neurons	neurons:	n/a	chr6:146056304-146056317 chr6:146055098-146055106
25	POLR2A	chr6:146055514-146057251	HepG2	liver:	n/a	n/a
26	KAP1	chr6:146055026-146055563	K562	blood:	n/a	n/a
27	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
28	STAT3	chr6:146055474-146055665	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr6:146055179-146057616	K562	blood:	n/a	n/a
30	POLR2A	chr6:146055161-146058357	IMR90	lung:	n/a	n/a
31	POLR2A	chr6:146055026-146057665	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr6:146054953-146057390	K562	blood:	n/a	n/a
33	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
34	HCFC1	chr6:146055498-146057320	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr6:146055061-146058277	MCF10A-Er-Src	breast:	n/a	n/a
36	BHLHE40	chr6:146055480-146057455	GM12878	blood:	n/a	chr6:146056676-146056692
37	IRF1	chr6:146055506-146057291	K562	blood:	n/a	chr6:146055792-146055802 chr6:146056929-146056943
38	POLR2A	chr6:146055148-146057403	PBDE	blood:	n/a	n/a
39	ZNF143	chr6:146055465-146056465	K562	blood:	n/a	n/a
40	POLR2A	chr6:146055049-146057737	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:146055478..146057329-chr6:146213622..146216410,2	K562	blood:
2	chr6:146054764..146058281-chr6:146133205..146137397,13	MCF-7	breast:
3	chr6:146054881..146058754-chr6:146284576..146286666,3	K562	blood:
4	chr6:146054188..146056153-chr6:146627133..146629580,2	K562	blood:
5	chr6:146051601..146058492-chr6:146282422..146286666,8	K562	blood:
6	chr6:146023773..146025394-chr6:146054656..146056157,2	K562	blood:
7	chr6:146052168..146062191-chr6:146124046..146141258,59	K562	blood:
8	chr6:146047378..146061811-chr6:146118130..146137627,77	K562	blood:
9	chr6:146054743..146057884-chr6:146276241..146279001,3	K562	blood:

Variant related genes	Relation type
ENSG00000270638	TF binding region
ENSG00000118496	Chromatin interaction
ENSG00000146414	Chromatin interaction
ENSG00000235652	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:106 , 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	chr6:146054800-146055600	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr6:146054800-146055600	Flanking Active TSS	Dnd41	blood
12	chr6:146054800-146056200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:146054800-146057800	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr6:146054800-146058400	Active TSS	Stomach Smooth Muscle	stomach
15	chr6:146055000-146055600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:146055000-146055600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:146055000-146055600	Enhancers	Primary B cells from peripheral blood	blood
18	chr6:146055000-146055600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr6:146055000-146055600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:146055000-146055600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr6:146055000-146055600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr6:146055000-146055600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:146055000-146055600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr6:146055000-146055600	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr6:146055000-146055600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr6:146055000-146055600	Flanking Active TSS	Fetal Brain Male	brain
27	chr6:146055000-146055600	Flanking Active TSS	A549	lung
28	chr6:146055000-146055800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr6:146055000-146055800	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr6:146055000-146055800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr6:146055000-146055800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr6:146055000-146056000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:146055000-146057200	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr6:146055000-146057200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:146055000-146057400	Active TSS	Right Ventricle	heart
36	chr6:146055000-146057600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:146055000-146057600	Active TSS	Colon Smooth Muscle	Colon
38	chr6:146055000-146057800	Active TSS	Brain Angular Gyrus	brain
39	chr6:146055000-146058000	Active TSS	Fetal Stomach	stomach
40	chr6:146055000-146058000	Active TSS	Thymus	Thymus
41	chr6:146055000-146058400	Active TSS	Brain Germinal Matrix	brain
42	chr6:146055000-146058400	Active TSS	Right Atrium	heart
43	chr6:146055200-146055600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr6:146055200-146055600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr6:146055200-146055600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:146055200-146055600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:146055200-146055600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr6:146055200-146055600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:146055200-146055600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr6:146055200-146055600	Flanking Active TSS	Adipose Nuclei	Adipose

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