Variant report

Variant	rs150290619
Chromosome Location	chr6:146057953-146057954
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

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	CUX1	chr6:146057683-146058175	K562	blood:	n/a	n/a
3	MAFF	chr6:146057010-146058120	K562	blood:	n/a	chr6:146057511-146057529
4	POLR2A	chr6:146055750-146058001	GM19099	blood:	n/a	n/a
5	MAFK	chr6:146056895-146058034	K562	blood:	n/a	chr6:146057517-146057528 chr6:146057515-146057529 chr6:146057512-146057527 chr6:146057516-146057527 chr6:146057517-146057528 chr6:146057512-146057528
6	ELK1	chr6:146057870-146057973	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:146055289-146058747	K562	blood:	n/a	n/a
8	POLR2A	chr6:146055683-146058281	GM12891	blood:	n/a	n/a
9	POLR2A	chr6:146057798-146058035	HepG2	liver:	n/a	n/a
10	POLR2A	chr6:146055006-146058050	K562	blood:	n/a	n/a
11	STAT3	chr6:146057565-146057959	GM12878	blood:	n/a	chr6:146057842-146057853
12	POLR2A	chr6:146055161-146058357	IMR90	lung:	n/a	n/a
13	RCOR1	chr6:146057751-146058148	K562	blood:	n/a	n/a
14	POLR2A	chr6:146057672-146058515	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr6:146055061-146058277	MCF10A-Er-Src	breast:	n/a	n/a
16	HEY1	chr6:146057910-146058114	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:146057943-146057993	HNPCEpiC	eye:	n/a
2	chr6:146057943-146057993	HAEpiC	amniotic membrane:	n/a
3	chr6:146057943-146057993	SK-N-SH_RA	brain:	n/a
4	chr6:146057943-146057993	HMEC	breast:	n/a
5	chr6:146057943-146057993	Caco-2	colon:	n/a
6	chr6:146057943-146057993	AG10803	skin:	n/a
7	chr6:146057943-146057993	T-47D	breast:	n/a
8	chr6:146057943-146057993	RPTEC	kidney:	n/a
9	chr6:146057943-146057993	U87	brain:	n/a
10	chr6:146057943-146057993	HPAEpiC	pulmonary alveolar:	n/a
11	chr6:146057943-146057993	HCPEpiC	choroid plexus:	n/a
12	chr6:146057943-146057993	HCF	heart:	n/a
13	chr6:146057943-146057993	A549	lung:	n/a
14	chr6:146057943-146057993	BJ	skin:	n/a
15	chr6:146057943-146057993	GM12891	blood:	n/a
16	chr6:146057943-146057993	Hela-S3	cervix:	n/a
17	chr6:146057943-146057993	K562	blood:	n/a
18	chr6:146057943-146057993	AG09319	gingival:	n/a
19	chr6:146057943-146057993	NHBE	bronchial:	n/a
20	chr6:146057943-146057993	NB4	blood:	n/a
21	chr6:146057943-146057993	NH-A	brain:	n/a
22	chr6:146057943-146057993	HEEpiC	esophagus:	n/a
23	chr6:146057943-146057993	ECC-1	luminal epithelium:	n/a
24	chr6:146057943-146057993	Jurkat	blood:	n/a
25	chr6:146057943-146057993	MCF-7	breast:	n/a
26	chr6:146057943-146057993	HRCEpiC	kidney:	n/a
27	chr6:146057943-146057993	NT2-D1	testis:	n/a
28	chr6:146057943-146057993	HIPEpiC	eye:	n/a
29	chr6:146057943-146057993	Hepatocyte	liver:	n/a
30	chr6:146057943-146057993	PFSK-1	brain:	n/a
31	chr6:146057943-146057993	SAEC	small airway:	n/a
32	chr6:146057943-146057993	ovcar-3	ovarian:	n/a
33	chr6:146057943-146057993	SK-N-SH	brain:	n/a
34	chr6:146057943-146057993	ProgFib	skin:	n/a
35	chr6:146057943-146057993	AG04450	lung:	fetal
36	chr6:146057943-146057993	NHDF-neo	bronchial:	n/a
37	chr6:146057943-146057993	SKMC	muscle:	n/a
38	chr6:146057943-146057993	HEK293	kidney:	embryo
39	chr6:146057943-146057993	MCF10A-Er-Src	breast:	n/a
40	chr6:146057943-146057993	BE2_C	brain:	n/a
41	chr6:146057943-146057993	LNCaP	prostate:	n/a
42	chr6:146057943-146057993	HCT-116	colon:	n/a
43	chr6:146057943-146057993	AG09309	skin:	n/a
44	chr6:146057943-146057993	HRPEpiC	eye:	n/a
45	chr6:146057943-146057993	HCM	heart:	n/a
46	chr6:146057943-146057993	GM19239	blood:	n/a
47	chr6:146057943-146057993	CMK	blood:	n/a
48	chr6:146057943-146057993	GM12892	blood:	n/a
49	chr6:146057943-146057993	HRE	kidney:	n/a
50	chr6:146057943-146057993	HL-60	blood:	n/a

(count:6 , 50 per page) page: 1

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	chr6:146055814..146058166-chr6:146135376..146138309,3	MCF-7	breast:
4	chr6:146051601..146058492-chr6:146282422..146286666,8	K562	blood:
5	chr6:146052168..146062191-chr6:146124046..146141258,59	K562	blood:
6	chr6:146047378..146061811-chr6:146118130..146137627,77	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRM1-11	chr6:146056706-146058354	ENSG00000270638.1

No data

Variant related genes	Relation type
EPM2A	TF binding region
EPM2A	CpG island
ENSG00000235652	Chromatin interaction
ENSG00000146414	Chromatin interaction
ENSG00000118496	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	nsv970354	chr6:146057495-146060252	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146054800-146058400	Active TSS	Stomach Smooth Muscle	stomach
2	chr6:146055000-146058000	Active TSS	Fetal Stomach	stomach
3	chr6:146055000-146058000	Active TSS	Thymus	Thymus
4	chr6:146055000-146058400	Active TSS	Brain Germinal Matrix	brain
5	chr6:146055000-146058400	Active TSS	Right Atrium	heart
6	chr6:146055200-146058000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:146055200-146058000	Active TSS	Fetal Muscle Leg	muscle
8	chr6:146055200-146058400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:146055400-146058000	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr6:146055400-146058000	Active TSS	GM12878-XiMat	blood
11	chr6:146055400-146058400	Active TSS	Brain Anterior Caudate	brain
12	chr6:146055600-146058000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr6:146055600-146058000	Active TSS	Brain Cingulate Gyrus	brain
14	chr6:146055600-146058200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:146055600-146058200	Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr6:146055600-146058200	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr6:146055600-146058200	Active TSS	Fetal Brain Female	brain
18	chr6:146055600-146058400	Active TSS	HSMMtube	muscle
19	chr6:146055600-146058800	Active TSS	Aorta	Aorta
20	chr6:146056800-146058000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr6:146056800-146058000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr6:146056800-146058200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr6:146056800-146058400	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr6:146056800-146058400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:146057200-146058000	Weak transcription	Ovary	ovary
26	chr6:146057200-146058400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:146057200-146063200	Weak transcription	Lung	lung
28	chr6:146057400-146058000	Weak transcription	Colonic Mucosa	Colon
29	chr6:146057400-146058000	Weak transcription	Fetal Thymus	thymus
30	chr6:146057400-146058200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr6:146057400-146058200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr6:146057400-146058200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:146057400-146058200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr6:146057400-146058200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr6:146057400-146058200	Enhancers	HepG2	liver
36	chr6:146057400-146058400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:146057400-146058400	Enhancers	Duodenum Mucosa	Duodenum
38	chr6:146057400-146058400	Enhancers	HSMM	muscle
39	chr6:146057400-146058600	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr6:146057400-146058600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:146057400-146058600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:146057600-146058000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:146057600-146058000	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr6:146057600-146058000	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr6:146057600-146058000	Flanking Active TSS	Fetal Brain Male	brain
46	chr6:146057600-146058000	Enhancers	HMEC	breast
47	chr6:146057600-146058000	Flanking Active TSS	NHDF-Ad	bronchial
48	chr6:146057600-146058200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr6:146057600-146058200	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr6:146057600-146058200	Flanking Active TSS	Fetal Lung	lung

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