Variant report

Variant	rs544003338
Chromosome Location	chr6:149067740-149067741
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	ATF2	chr6:149067665-149068154	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF384	chr6:149067714-149068223	K562	blood:	n/a	n/a
3	CTCF	chr6:149067673-149068157	IMR90	lung:	n/a	n/a
4	FOXA1	chr6:149067719-149067975	T-47D	breast:	n/a	n/a
5	ZNF143	chr6:149067394-149068258	H1-hESC	embryonic stem cell:	n/a	n/a
6	RUNX3	chr6:149067667-149068070	GM12878	blood:	n/a	n/a
7	TFAP2A	chr6:149067084-149069514	Hela-S3	cervix:	n/a	chr6:149069048-149069056 chr6:149069442-149069453 chr6:149069442-149069453 chr6:149069048-149069056 chr6:149069243-149069251 chr6:149069442-149069453 chr6:149069048-149069056 chr6:149069442-149069453 chr6:149069243-149069251 chr6:149069242-149069253 chr6:149069443-149069451 chr6:149069243-149069251
8	FOXM1	chr6:149067500-149068221	GM12878	blood:	n/a	n/a
9	RAD21	chr6:149067512-149069188	IMR90	lung:	n/a	chr6:149067977-149067987 chr6:149068450-149068462 chr6:149067833-149067842
10	CTCF	chr6:149067720-149067870	HepG2	liver:	n/a	n/a
11	JUN	chr6:149067614-149068104	H1-hESC	embryonic stem cell:	n/a	n/a
12	KAP1	chr6:149067241-149068203	HEK293	kidney:	n/a	chr6:149068166-149068174
13	ZNF143	chr6:149067685-149068369	GM12878	blood:	n/a	n/a
14	STAT3	chr6:149067729-149068036	MCF10A-Er-Src	breast:	n/a	n/a
15	MYC	chr6:149067697-149067898	MCF10A-Er-Src	breast:	n/a	n/a
16	SPI1	chr6:149067706-149067975	GM12891	blood:	n/a	n/a
17	MAZ	chr6:149067408-149069284	Hela-S3	cervix:	n/a	chr6:149069010-149069020 chr6:149068437-149068447
18	UBTF	chr6:149067659-149068168	K562	blood:	n/a	n/a
19	CTCF	chr6:149067740-149067890	HCFaa	heart:	n/a	n/a
20	ELF1	chr6:149067362-149069363	GM12878	blood:	n/a	chr6:149069033-149069042 chr6:149068379-149068388
21	BHLHE40	chr6:149067719-149068210	GM12878	blood:	n/a	chr6:149067973-149067989
22	MXI1	chr6:149067543-149068181	GM12878	blood:	n/a	n/a
23	RUNX3	chr6:149067624-149068089	GM12878	blood:	n/a	n/a
24	UBTF	chr6:149067580-149067761	K562	blood:	n/a	n/a
25	FOXA2	chr6:149067571-149068111	A549	lung:	n/a	n/a
26	POLR2A	chr6:149067477-149068413	HEK293	kidney:	n/a	n/a
27	FOXA1	chr6:149067663-149068029	HepG2	liver:	n/a	n/a
28	TAF1	chr6:149067686-149068351	H1-hESC	embryonic stem cell:	n/a	n/a
29	FOXM1	chr6:149067607-149068086	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:149067339-149068737	H1-hESC	embryonic stem cell:	n/a	n/a
31	RFX5	chr6:149067562-149068580	Hela-S3	cervix:	n/a	chr6:149068416-149068425
32	FOXA2	chr6:149067578-149068097	A549	lung:	n/a	n/a
33	POLR2A	chr6:149067614-149068280	SK-N-MC	brain:	n/a	n/a
34	EP300	chr6:149067681-149068109	GM12878	blood:	n/a	n/a
35	CTCF	chr6:149067646-149068011	HepG2	liver:	n/a	n/a
36	CTCF	chr6:149067735-149067933	Kidney_OC	kidney:	n/a	n/a
37	RAD21	chr6:149067592-149068178	MCF-7	breast:	n/a	chr6:149067977-149067987 chr6:149067833-149067842
38	FOXA1	chr6:149067589-149068023	HepG2	liver:	n/a	n/a
39	CTBP2	chr6:149067493-149070040	H1-hESC	embryonic stem cell:	n/a	n/a
40	POU2F2	chr6:149067700-149068312	GM12891	blood:	n/a	chr6:149067971-149067983 chr6:149067969-149067981
41	TCF7L2	chr6:149067505-149069242	HCT-116	colon:	n/a	n/a
42	CTCF	chr6:149067740-149067890	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr6:149067708-149068531	IMR90	lung:	n/a	n/a
44	GTF2F1	chr6:149067701-149068136	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr6:149067740-149067890	HA-sp	spinal cord:	n/a	n/a
46	RAD21	chr6:149067605-149068158	A549	lung:	n/a	chr6:149067977-149067987 chr6:149067833-149067842
47	RAD21	chr6:149067518-149068183	H1-hESC	embryonic stem cell:	n/a	chr6:149067977-149067987 chr6:149067833-149067842
48	SIN3A	chr6:149067686-149067888	GM12878	blood:	n/a	n/a
49	POLR2A	chr6:149067231-149069320	MCF10A-Er-Src	breast:	n/a	n/a
50	CTCF	chr6:149067700-149068044	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:148899084..148899814-chr6:149067515..149068142,2	MCF-7	breast:
2	chr6:149067411..149067919-chr6:149268731..149269686,2	K562	blood:
3	chr6:149067550..149069400-chr6:149273636..149276626,2	MCF-7	breast:
4	chr6:149067355..149068145-chr6:149268892..149269692,5	MCF-7	breast:
5	chr6:149019649..149022015-chr6:149065928..149067925,2	MCF-7	breast:

Variant related genes	Relation type
UST	TF binding region
ENSG00000111962	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3407924	chr6:149067684-149070232	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149067000-149067800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:149067000-149067800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:149067000-149067800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:149067000-149067800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:149067000-149067800	Flanking Active TSS	Dnd41	blood
6	chr6:149067000-149068600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:149067000-149069600	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr6:149067000-149069600	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr6:149067000-149069800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr6:149067000-149070200	Active TSS	NHDF-Ad	bronchial
11	chr6:149067000-149070400	Active TSS	H9 Cell Line	embryonic stem cell
12	chr6:149067200-149067800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:149067200-149067800	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr6:149067200-149067800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr6:149067200-149067800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:149067200-149067800	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr6:149067200-149067800	Flanking Bivalent TSS/Enh	Liver	Liver
18	chr6:149067200-149067800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr6:149067200-149067800	Flanking Active TSS	Placenta	Placenta
20	chr6:149067200-149067800	Flanking Active TSS	NH-A	brain
21	chr6:149067200-149067800	Flanking Active TSS	NHEK	skin
22	chr6:149067200-149068400	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr6:149067200-149068600	Active TSS	Right Ventricle	heart
24	chr6:149067200-149068800	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr6:149067200-149068800	Active TSS	Placenta Amnion	Placenta Amnion
26	chr6:149067200-149069200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:149067200-149069200	Bivalent/Poised TSS	A549	lung
28	chr6:149067200-149069600	Bivalent/Poised TSS	Fetal Brain Female	brain
29	chr6:149067200-149069600	Active TSS	Left Ventricle	heart
30	chr6:149067200-149069800	Active TSS	Aorta	Aorta
31	chr6:149067200-149070000	Active TSS	Fetal Kidney	kidney
32	chr6:149067200-149070000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
33	chr6:149067200-149070000	Active TSS	Right Atrium	heart
34	chr6:149067200-149070200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr6:149067200-149070200	Active TSS	HSMMtube	muscle
36	chr6:149067200-149070600	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr6:149067400-149067800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:149067400-149067800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
39	chr6:149067400-149067800	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr6:149067400-149067800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
41	chr6:149067400-149067800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:149067400-149067800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
43	chr6:149067400-149067800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:149067400-149067800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr6:149067400-149067800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
46	chr6:149067400-149067800	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr6:149067400-149067800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
48	chr6:149067400-149067800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
49	chr6:149067400-149067800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
50	chr6:149067400-149067800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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