Variant report

Variant	rs74857948
Chromosome Location	chr6:146054988-146054989
allele	C/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	RFX5	chr6:146054987-146055518	K562	blood:	n/a	n/a
2	MXI1	chr6:146054723-146057920	SK-N-SH	brain:	n/a	n/a
3	MYC	chr6:146054938-146057332	K562	blood:	n/a	chr6:146056754-146056763 chr6:146057245-146057254 chr6:146056754-146056761 chr6:146056752-146056765
4	KAP1	chr6:146054943-146057309	HEK293	kidney:	n/a	n/a
5	JUND	chr6:146054869-146057351	K562	blood:	n/a	chr6:146055673-146055685 chr6:146057214-146057223 chr6:146056635-146056644 chr6:146055049-146055057 chr6:146057235-146057249
6	E2F4	chr6:146054939-146055454	MCF10A-Er-Src	breast:	n/a	n/a
7	TBL1XR1	chr6:146054850-146056528	K562	blood:	n/a	n/a
8	CEBPB	chr6:146054958-146055072	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZNF384	chr6:146054969-146057583	K562	blood:	n/a	n/a
10	CEBPB	chr6:146054908-146055221	K562	blood:	n/a	n/a
11	ARID3A	chr6:146054941-146055183	K562	blood:	n/a	n/a
12	MYC	chr6:146054438-146055284	MCF10A-Er-Src	breast:	n/a	n/a
13	MYC	chr6:146054966-146055255	NB4	blood:	n/a	n/a
14	FOS	chr6:146054848-146055191	MCF10A-Er-Src	breast:	n/a	chr6:146055049-146055057
15	POLR2A	chr6:146054953-146057390	K562	blood:	n/a	n/a
16	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
17	CTCF	chr6:146054441-146055027	K562	blood:	n/a	chr6:146054529-146054547 chr6:146054531-146054552

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
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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146026800-146055800	Weak transcription	Left Ventricle	heart
2	chr6:146035800-146055200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:146045000-146055200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:146047800-146055000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:146050000-146055000	Weak transcription	Fetal Lung	lung
6	chr6:146050200-146055000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:146050400-146055600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:146050600-146055000	Weak transcription	Adipose Nuclei	Adipose
9	chr6:146050600-146055000	Weak transcription	Fetal Stomach	stomach
10	chr6:146050600-146055000	Weak transcription	Thymus	Thymus
11	chr6:146050600-146055200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:146050600-146055800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:146050800-146055000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:146050800-146055200	Weak transcription	Fetal Muscle Leg	muscle
15	chr6:146051000-146055000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:146051000-146055600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:146051200-146055000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:146051600-146055000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:146052200-146055000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr6:146052800-146055200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr6:146052800-146055600	Weak transcription	Aorta	Aorta
22	chr6:146052800-146055600	Weak transcription	Ovary	ovary
23	chr6:146052800-146055800	Weak transcription	Gastric	stomach
24	chr6:146053000-146055000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:146053000-146055000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:146053200-146055000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr6:146053400-146055000	Weak transcription	Fetal Heart	heart
28	chr6:146053800-146055000	Enhancers	Rectal Smooth Muscle	rectum
29	chr6:146054000-146055000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:146054000-146055000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:146054000-146055200	Enhancers	Hela-S3	cervix
32	chr6:146054000-146055200	Enhancers	HUVEC	blood vessel
33	chr6:146054200-146055000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:146054200-146055000	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:146054200-146055000	Weak transcription	Psoas Muscle	Psoas
36	chr6:146054200-146055200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr6:146054200-146055800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:146054200-146055800	Weak transcription	Esophagus	oesophagus
39	chr6:146054600-146055000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr6:146054600-146055000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:146054800-146055000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:146054800-146055000	Active TSS	Primary hematopoietic stem cells	blood
43	chr6:146054800-146055000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:146054800-146055000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr6:146054800-146055000	Enhancers	Brain Anterior Caudate	brain
46	chr6:146054800-146055000	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr6:146054800-146055000	Enhancers	Brain Hippocampus Middle	brain
48	chr6:146054800-146055000	Active TSS	Fetal Brain Male	brain
49	chr6:146054800-146055000	Enhancers	Fetal Intestine Large	intestine
50	chr6:146054800-146055000	Enhancers	Fetal Intestine Small	intestine

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