Variant report

Variant	rs536154079
Chromosome Location	chr3:118958574-118958575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr3:118958160-118958640	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:118958207-118960535	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr3:118958319-118959995	IMR90	lung:	n/a	n/a
4	CHD1	chr3:118958405-118960749	IMR90	lung:	n/a	chr3:118959806-118959816
5	MXI1	chr3:118958090-118960205	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr3:118958262-118960665	HepG2	liver:	n/a	n/a
7	SPI1	chr3:118958312-118958588	GM12891	blood:	n/a	chr3:118958480-118958493 chr3:118958482-118958491
8	CUX1	chr3:118958561-118958607	K562	blood:	n/a	n/a
9	E2F4	chr3:118958365-118958585	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr3:118958327-118958648	MCF10A-Er-Src	breast:	n/a	n/a
11	SPI1	chr3:118958371-118958666	GM12891	blood:	n/a	chr3:118958480-118958493 chr3:118958482-118958491
12	ZNF384	chr3:118958021-118958574	K562	blood:	n/a	n/a
13	SPI1	chr3:118958415-118958620	GM12878	blood:	n/a	chr3:118958480-118958493 chr3:118958482-118958491
14	SPI1	chr3:118958230-118958653	HL-60	blood:	n/a	chr3:118958480-118958493 chr3:118958482-118958491

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:118958539-118958589	SKMC	muscle:	n/a
2	chr3:118958539-118958589	HEK293	kidney:	embryo
3	chr3:118958539-118958589	NH-A	brain:	n/a
4	chr3:118958539-118958589	Hepatocyte	liver:	n/a
5	chr3:118958539-118958589	HMEC	breast:	n/a
6	chr3:118958539-118958589	U87	brain:	n/a
7	chr3:118958539-118958589	HCT-116	colon:	n/a
8	chr3:118958539-118958589	LNCaP	prostate:	n/a
9	chr3:118958539-118958589	CMK	blood:	n/a
10	chr3:118958539-118958589	AG04449	skin:	fetal
11	chr3:118958539-118958589	IMR90	lung:	fetal
12	chr3:118958539-118958589	HPAEpiC	pulmonary alveolar:	n/a
13	chr3:118958539-118958589	AG09319	gingival:	n/a
14	chr3:118958539-118958589	SAEC	small airway:	n/a
15	chr3:118958539-118958589	A549	lung:	n/a
16	chr3:118958539-118958589	HIPEpiC	eye:	n/a
17	chr3:118958539-118958589	HRCEpiC	kidney:	n/a
18	chr3:118958539-118958589	RPTEC	kidney:	n/a
19	chr3:118958539-118958589	NT2-D1	testis:	n/a
20	chr3:118958539-118958589	HepG2	liver:	n/a
21	chr3:118958539-118958589	HL-60	blood:	n/a
22	chr3:118958539-118958589	HEEpiC	esophagus:	n/a
23	chr3:118958539-118958589	MCF10A-Er-Src	breast:	n/a
24	chr3:118958539-118958589	NHBE	bronchial:	n/a
25	chr3:118958539-118958589	ECC-1	luminal epithelium:	n/a
26	chr3:118958539-118958589	BE2_C	brain:	n/a
27	chr3:118958539-118958589	HCPEpiC	choroid plexus:	n/a
28	chr3:118958539-118958589	SK-N-SH	brain:	n/a
29	chr3:118958539-118958589	PFSK-1	brain:	n/a
30	chr3:118958539-118958589	GM12878	blood:	n/a
31	chr3:118958539-118958589	AG10803	skin:	n/a
32	chr3:118958539-118958589	GM12892	blood:	n/a
33	chr3:118958539-118958589	HUVEC	blood vessel:	n/a
34	chr3:118958539-118958589	H1-hESC	embryonic stem cell:	embryo
35	chr3:118958539-118958589	HRPEpiC	eye:	n/a
36	chr3:118958539-118958589	PANC-1	pancreas:	n/a
37	chr3:118958539-118958589	ovcar-3	ovarian:	n/a
38	chr3:118958539-118958589	GM06990	blood:	n/a
39	chr3:118958539-118958589	NHDF-neo	bronchial:	n/a
40	chr3:118958539-118958589	MCF-7	breast:	n/a
41	chr3:118958539-118958589	AG09309	skin:	n/a
42	chr3:118958539-118958589	HNPCEpiC	eye:	n/a
43	chr3:118958539-118958589	Hela-S3	cervix:	n/a
44	chr3:118958539-118958589	SK-N-MC	brain:	n/a
45	chr3:118958539-118958589	Caco-2	colon:	n/a
46	chr3:118958539-118958589	ProgFib	skin:	n/a
47	chr3:118958539-118958589	PrEC	prostate:	n/a
48	chr3:118958539-118958589	BJ	skin:	n/a
49	chr3:118958539-118958589	NB4	blood:	n/a
50	chr3:118958539-118958589	HCF	heart:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:118957609..118959509-chr3:119217273..119218823,2	MCF-7	breast:
2	chr3:118944759..118947412-chr3:118958236..118960502,3	MCF-7	breast:
3	chr3:118952753..118957545-chr3:118958102..118959880,7	K562	blood:
4	chr3:118948357..118951865-chr3:118958522..118961643,4	MCF-7	breast:
5	chr3:118863527..118866220-chr3:118958408..118962544,4	MCF-7	breast:
6	chr3:118903933..118906787-chr3:118956775..118959458,2	MCF-7	breast:
7	chr3:118948409..118952425-chr3:118955700..118962526,10	K562	blood:
8	chr3:118943120..118945710-chr3:118958108..118960423,2	K562	blood:
9	chr3:118954516..118958209-chr3:118958247..118961418,8	MCF-7	breast:

No data

Variant related genes	Relation type
B4GALT4	TF binding region
B4GALT4	CpG island
ENSG00000144847	Chromatin interaction
ENSG00000113845	Chromatin interaction
ENSG00000121578	Chromatin interaction
ENSG00000114638	Chromatin interaction
ENSG00000163424	Chromatin interaction
ENSG00000240254	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3405597	chr3:118958287-118960835	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118924400-118959000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:118945800-118958600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:118948400-118958600	Weak transcription	Colonic Mucosa	Colon
4	chr3:118949400-118958800	Weak transcription	Lung	lung
5	chr3:118949600-118958600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:118949600-118958600	Weak transcription	Brain Germinal Matrix	brain
7	chr3:118949600-118958800	Weak transcription	Gastric	stomach
8	chr3:118949800-118958800	Weak transcription	Spleen	Spleen
9	chr3:118951600-118958800	Weak transcription	Esophagus	oesophagus
10	chr3:118952000-118958800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:118952800-118958600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:118953600-118958600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:118954800-118958600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:118955000-118958600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr3:118955000-118958600	Weak transcription	HSMMtube	muscle
16	chr3:118955800-118958600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:118956000-118958600	Weak transcription	Left Ventricle	heart
18	chr3:118956000-118958600	Weak transcription	Psoas Muscle	Psoas
19	chr3:118956000-118958800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:118956000-118958800	Weak transcription	Pancreas	Pancrea
21	chr3:118956800-118960000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:118956800-118960000	Active TSS	A549	lung
23	chr3:118957200-118958600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:118957200-118958600	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr3:118957200-118958600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:118957200-118958600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr3:118957200-118958800	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr3:118957200-118959400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:118957200-118960200	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr3:118957400-118959400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:118957400-118960200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:118957400-118960200	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr3:118957400-118960200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:118957400-118960200	Active TSS	NHDF-Ad	bronchial
35	chr3:118957600-118958600	Enhancers	Primary B cells from peripheral blood	blood
36	chr3:118957600-118958600	Enhancers	Brain Hippocampus Middle	brain
37	chr3:118957600-118958800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr3:118957600-118958800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr3:118957600-118958800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr3:118957600-118960000	Active TSS	Right Ventricle	heart
41	chr3:118957600-118960200	Active TSS	H1 Cell Line	embryonic stem cell
42	chr3:118957600-118960200	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr3:118957600-118960200	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr3:118957600-118960200	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr3:118957600-118960200	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr3:118957600-118960200	Active TSS	Right Atrium	heart
47	chr3:118957600-118960400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr3:118957800-118958600	Enhancers	Adipose Nuclei	Adipose
49	chr3:118957800-118958600	Enhancers	Colon Smooth Muscle	Colon
50	chr3:118957800-118958600	Enhancers	Fetal Thymus	thymus

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