Variant report

Variant	rs544018553
Chromosome Location	chr4:15704556-15704557
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:15704439-15705084	HL-60	blood:	n/a	n/a
2	POLR2A	chr4:15704553-15704944	A549	lung:	n/a	n/a
3	CEBPB	chr4:15704347-15704605	A549	lung:	n/a	n/a
4	MAX	chr4:15704322-15705025	A549	lung:	n/a	n/a
5	MAX	chr4:15704322-15705015	A549	lung:	n/a	n/a
6	JUND	chr4:15704542-15704952	A549	lung:	n/a	n/a
7	POLR2A	chr4:15704512-15705015	HUVEC	blood vessel:	n/a	n/a
8	SPI1	chr4:15704371-15705052	HL-60	blood:	n/a	chr4:15704718-15704731
9	POLR2A	chr4:15704483-15704985	A549	lung:	n/a	n/a
10	E2F6	chr4:15704499-15705041	A549	lung:	n/a	n/a
11	ELF1	chr4:15704484-15704964	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:15704436-15705176	HL-60	blood:	n/a	n/a
13	REST	chr4:15704434-15705043	HL-60	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:15704550-15704600	MCF-7	breast:	n/a
2	chr4:15704550-15704600	HAEpiC	amniotic membrane:	n/a
3	chr4:15704550-15704600	LNCaP	prostate:	n/a
4	chr4:15704550-15704600	NB4	blood:	n/a
5	chr4:15704550-15704600	NT2-D1	testis:	n/a
6	chr4:15704550-15704600	NHDF-neo	bronchial:	n/a
7	chr4:15704550-15704600	HCM	heart:	n/a
8	chr4:15704550-15704600	AG10803	skin:	n/a
9	chr4:15704550-15704600	AG09319	gingival:	n/a
10	chr4:15704550-15704600	AG04450	lung:	fetal
11	chr4:15704550-15704600	ECC-1	luminal epithelium:	n/a
12	chr4:15704550-15704600	AG09309	skin:	n/a
13	chr4:15704550-15704600	HepG2	liver:	n/a
14	chr4:15704550-15704600	HRPEpiC	eye:	n/a
15	chr4:15704550-15704600	MCF10A-Er-Src	breast:	n/a
16	chr4:15704550-15704600	SK-N-SH	brain:	n/a
17	chr4:15704550-15704600	SKMC	muscle:	n/a
18	chr4:15704550-15704600	K562	blood:	n/a
19	chr4:15704550-15704600	HPAEpiC	pulmonary alveolar:	n/a
20	chr4:15704550-15704600	IMR90	lung:	fetal
21	chr4:15704550-15704600	ovcar-3	ovarian:	n/a
22	chr4:15704550-15704600	AoSMC	blood vessel:	n/a
23	chr4:15704550-15704600	SK-N-MC	brain:	n/a
24	chr4:15704550-15704600	HUVEC	blood vessel:	n/a
25	chr4:15704550-15704600	BE2_C	brain:	n/a
26	chr4:15704550-15704600	H1-hESC	embryonic stem cell:	embryo
27	chr4:15704550-15704600	AG04449	skin:	fetal
28	chr4:15704550-15704600	Jurkat	blood:	n/a
29	chr4:15704550-15704600	HCF	heart:	n/a
30	chr4:15704550-15704600	HEK293	kidney:	embryo
31	chr4:15704550-15704600	HCPEpiC	choroid plexus:	n/a
32	chr4:15704550-15704600	BJ	skin:	n/a
33	chr4:15704550-15704600	GM06990	blood:	n/a
34	chr4:15704550-15704600	GM12891	blood:	n/a
35	chr4:15704550-15704600	HRCEpiC	kidney:	n/a
36	chr4:15704550-15704600	GM12892	blood:	n/a
37	chr4:15704550-15704600	GM12878	blood:	n/a
38	chr4:15704550-15704600	NH-A	brain:	n/a
39	chr4:15704550-15704600	A549	lung:	n/a
40	chr4:15704550-15704600	NHBE	bronchial:	n/a
41	chr4:15704550-15704600	CMK	blood:	n/a
42	chr4:15704550-15704600	U87	brain:	n/a
43	chr4:15704550-15704600	HRE	kidney:	n/a
44	chr4:15704550-15704600	HNPCEpiC	eye:	n/a
45	chr4:15704550-15704600	HL-60	blood:	n/a
46	chr4:15704550-15704600	PrEC	prostate:	n/a
47	chr4:15704550-15704600	HIPEpiC	eye:	n/a
48	chr4:15704550-15704600	SK-N-SH_RA	brain:	n/a
49	chr4:15704550-15704600	HEEpiC	esophagus:	n/a
50	chr4:15704550-15704600	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15655590..15657245-chr4:15703796..15706264,2	K562	blood:

No data

Variant related genes	Relation type
BST1	TF binding region
BST1	CpG island
ENSG00000118564	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3345585	chr4:15704254-15707452	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3414958	chr4:15704254-15708452	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15697600-15723600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:15703200-15704600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr4:15703200-15706600	Weak transcription	HepG2	liver
4	chr4:15703800-15704600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:15703800-15704600	Enhancers	Fetal Heart	heart
6	chr4:15703800-15704800	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr4:15703800-15705400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr4:15703800-15705600	Active TSS	Stomach Smooth Muscle	stomach
9	chr4:15704000-15704600	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr4:15704000-15704600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:15704000-15704600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:15704000-15704600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
13	chr4:15704000-15704600	Flanking Active TSS	Fetal Intestine Small	intestine
14	chr4:15704000-15704600	Enhancers	Gastric	stomach
15	chr4:15704000-15704600	Enhancers	Lung	lung
16	chr4:15704000-15704600	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr4:15704000-15704600	Enhancers	Stomach Mucosa	stomach
18	chr4:15704000-15704600	Flanking Active TSS	NHEK	skin
19	chr4:15704000-15704600	Flanking Active TSS	Osteobl	bone
20	chr4:15704000-15704800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr4:15704000-15705000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr4:15704000-15705000	Active TSS	Fetal Brain Female	brain
23	chr4:15704000-15705200	Enhancers	Fetal Brain Male	brain
24	chr4:15704000-15705400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:15704000-15705400	Active TSS	Fetal Kidney	kidney
26	chr4:15704200-15704600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr4:15704200-15704600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:15704200-15704600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr4:15704200-15704600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr4:15704200-15704600	Flanking Active TSS	Fetal Lung	lung
31	chr4:15704200-15704600	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr4:15704200-15704600	Flanking Active TSS	Fetal Thymus	thymus
33	chr4:15704200-15704600	Flanking Active TSS	Ovary	ovary
34	chr4:15704200-15704600	Flanking Active TSS	NHLF	lung
35	chr4:15704200-15704800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:15704200-15704800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr4:15704200-15704800	Active TSS	GM12878-XiMat	blood
38	chr4:15704200-15705000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr4:15704200-15705000	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr4:15704200-15705000	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr4:15704200-15705200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:15704200-15705200	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr4:15704200-15705200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr4:15704200-15705200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr4:15704200-15705200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:15704200-15705200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:15704200-15705200	Active TSS	Placenta Amnion	Placenta Amnion
48	chr4:15704200-15705200	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr4:15704200-15705200	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr4:15704200-15705200	Active TSS	NHDF-Ad	bronchial

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