Variant report

Variant	rs533183864
Chromosome Location	chr6:150920812-150920813
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	chr6:150920704-150921240	HCT-116	colon:	n/a	n/a
2	RAD21	chr6:150920753-150921218	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZBTB7A	chr6:150920781-150922160	ECC-1	luminal epithelium:	n/a	chr6:150921458-150921467 chr6:150921865-150921872
4	ELF1	chr6:150920800-150921267	GM12878	blood:	n/a	chr6:150921001-150921012
5	RCOR1	chr6:150920140-150920991	GM12878	blood:	n/a	n/a
6	KAP1	chr6:150920064-150920925	HEK293	kidney:	n/a	n/a
7	BHLHE40	chr6:150920401-150921055	GM12878	blood:	n/a	n/a
8	MAFK	chr6:150920563-150920850	HepG2	liver:	n/a	n/a
9	ELF1	chr6:150920761-150921321	GM12878	blood:	n/a	chr6:150921001-150921012
10	POLR2A	chr6:150920769-150921337	HUVEC	blood vessel:	n/a	n/a
11	SIN3A	chr6:150920694-150921178	H1-hESC	embryonic stem cell:	n/a	chr6:150921052-150921063
12	POLR2A	chr6:150920707-150921282	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:150920766-150921189	GM12892	blood:	n/a	n/a
14	POLR2A	chr6:150920812-150921284	HCT-116	colon:	n/a	n/a
15	MAX	chr6:150920805-150921238	ECC-1	luminal epithelium:	n/a	chr6:150920861-150920871
16	SPI1	chr6:150920772-150921163	HL-60	blood:	n/a	chr6:150921000-150921013 chr6:150921004-150921011 chr6:150921001-150921014 chr6:150921003-150921012
17	REST	chr6:150920737-150922500	H1-neurons	neurons:	n/a	chr6:150922073-150922086 chr6:150921613-150921626
18	MAZ	chr6:150920387-150921268	GM12878	blood:	n/a	chr6:150920861-150920871
19	POLR2A	chr6:150920749-150921304	H1-neurons	neurons:	n/a	n/a
20	ZNF384	chr6:150920807-150920866	K562	blood:	n/a	n/a
21	MAFF	chr6:150920622-150920844	HepG2	liver:	n/a	chr6:150920722-150920740
22	CTCF	chr6:150920760-150920910	SAEC	small airway:	n/a	n/a
23	ZNF263	chr6:150920778-150922232	HEK293-T-REx	kidney:	n/a	n/a
24	MAX	chr6:150920456-150921029	GM12878	blood:	n/a	chr6:150920861-150920871
25	MAFK	chr6:150920587-150920861	HepG2	liver:	n/a	n/a
26	MAFK	chr6:150920565-150920826	IMR90	lung:	n/a	n/a
27	SPI1	chr6:150920661-150921333	GM12878	blood:	n/a	chr6:150921000-150921013 chr6:150921004-150921011 chr6:150921001-150921014 chr6:150921003-150921012
28	E2F4	chr6:150920764-150921082	MCF10A-Er-Src	breast:	n/a	n/a
29	ZNF384	chr6:150920545-150920951	GM12878	blood:	n/a	n/a
30	ESRRA	chr6:150920131-150920985	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:150920767-150921437	HUVEC	blood vessel:	n/a	n/a
32	YY1	chr6:150920785-150921177	GM12878	blood:	n/a	chr6:150921112-150921126

Variant related genes	Relation type
PLEKHG1	TF binding region
ENSG00000232891	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886772	chr6:150743364-151024280	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3415576	chr6:150920109-150923107	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150919200-150921000	Weak transcription	Spleen	Spleen
2	chr6:150920200-150922400	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr6:150920200-150922400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:150920200-150922400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:150920200-150922400	Active TSS	Fetal Kidney	kidney
6	chr6:150920200-150922400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr6:150920200-150922600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:150920400-150921600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
9	chr6:150920400-150921600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:150920400-150921800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr6:150920400-150921800	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr6:150920400-150921800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr6:150920400-150922000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:150920400-150922000	Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr6:150920400-150922000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:150920400-150922000	Active TSS	Liver	Liver
17	chr6:150920400-150922000	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr6:150920400-150922200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:150920400-150922200	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr6:150920400-150922200	Active TSS	Duodenum Mucosa	Duodenum
21	chr6:150920400-150922400	Active TSS	Brain Angular Gyrus	brain
22	chr6:150920400-150922400	Active TSS	Rectal Smooth Muscle	rectum
23	chr6:150920400-150922400	Active TSS	Small Intestine	intestine
24	chr6:150920400-150922400	Active TSS	Stomach Mucosa	stomach
25	chr6:150920400-150922600	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr6:150920400-150923000	Active TSS	Right Atrium	heart
27	chr6:150920400-150923200	Active TSS	Thymus	Thymus
28	chr6:150920600-150921000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:150920600-150921000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:150920600-150921000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:150920600-150921400	Active TSS	Primary T cells fromperipheralblood	blood
32	chr6:150920600-150921400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:150920600-150921400	Active TSS	Stomach Smooth Muscle	stomach
34	chr6:150920600-150921400	Bivalent/Poised TSS	Osteobl	bone
35	chr6:150920600-150921600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:150920600-150921600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:150920600-150921600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:150920600-150921600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:150920600-150921600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:150920600-150921600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
41	chr6:150920600-150921600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
42	chr6:150920600-150921800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr6:150920600-150921800	Weak transcription	Fetal Brain Male	brain
44	chr6:150920600-150921800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
45	chr6:150920600-150921800	Active TSS	Placenta	Placenta
46	chr6:150920600-150921800	Active TSS	GM12878-XiMat	blood
47	chr6:150920600-150922000	Active TSS	Primary B cells from peripheral blood	blood
48	chr6:150920600-150922000	Active TSS	Primary T cells from cord blood	blood
49	chr6:150920600-150922000	Active TSS	Brain Cingulate Gyrus	brain
50	chr6:150920600-150922200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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