Variant report

Variant	rs549619179
Chromosome Location	chr7:105222049-105222050
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	YY1	chr7:105221470-105222161	SK-N-SH_RA	brain:	n/a	n/a
2	USF1	chr7:105221773-105222204	HepG2	liver:	n/a	chr7:105221986-105221995 chr7:105221985-105221996 chr7:105221987-105221996 chr7:105221981-105222002 chr7:105221988-105221997 chr7:105221987-105221996 chr7:105221985-105221998
3	MAX	chr7:105220418-105222344	HCT-116	colon:	n/a	chr7:105221987-105221996 chr7:105221987-105221996 chr7:105221697-105221706 chr7:105221987-105221996 chr7:105221696-105221707 chr7:105221985-105221998
4	POLR2A	chr7:105221908-105222145	HCT-116	colon:	n/a	n/a
5	MAX	chr7:105221380-105222362	A549	lung:	n/a	chr7:105221987-105221996 chr7:105221987-105221996 chr7:105221697-105221706 chr7:105221987-105221996 chr7:105221696-105221707 chr7:105221985-105221998
6	TBP	chr7:105221661-105222273	H1-hESC	embryonic stem cell:	n/a	n/a
7	GTF2F1	chr7:105221677-105222178	H1-hESC	embryonic stem cell:	n/a	n/a
8	CREB1	chr7:105221764-105222339	HepG2	liver:	n/a	n/a
9	USF1	chr7:105221511-105222299	SK-N-SH_RA	brain:	n/a	chr7:105221986-105221995 chr7:105221985-105221996 chr7:105221987-105221996 chr7:105221981-105222002 chr7:105221988-105221997 chr7:105221987-105221996 chr7:105221985-105221998
10	SIN3AK20	chr7:105221819-105222058	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr7:105221861-105222164	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:105221843-105222158	A549	lung:	n/a	n/a
13	TAF1	chr7:105221723-105222239	H1-hESC	embryonic stem cell:	n/a	n/a
14	GATA2	chr7:105221526-105222262	SH-SY5Y	brain:	n/a	n/a
15	MAX	chr7:105221533-105222201	A549	lung:	n/a	chr7:105221987-105221996 chr7:105221987-105221996 chr7:105221697-105221706 chr7:105221987-105221996 chr7:105221696-105221707 chr7:105221985-105221998
16	NR2F2	chr7:105221492-105222336	MCF-7	breast:	n/a	n/a
17	POLR2A	chr7:105221761-105222240	SK-N-SH	brain:	n/a	n/a
18	USF2	chr7:105221799-105222180	HepG2	liver:	n/a	chr7:105221986-105221995 chr7:105221987-105221996 chr7:105221981-105222002 chr7:105221988-105221997 chr7:105221987-105221996 chr7:105221985-105221998
19	MXI1	chr7:105221514-105222160	H1-hESC	embryonic stem cell:	n/a	chr7:105221986-105221995
20	MAX	chr7:105221505-105222289	MCF-7	breast:	n/a	chr7:105221987-105221996 chr7:105221987-105221996 chr7:105221697-105221706 chr7:105221987-105221996 chr7:105221696-105221707 chr7:105221985-105221998
21	POLR2A	chr7:105221885-105222180	A549	lung:	n/a	n/a
22	USF1	chr7:105221507-105222414	HCT-116	colon:	n/a	chr7:105221986-105221995 chr7:105221985-105221996 chr7:105221987-105221996 chr7:105221981-105222002 chr7:105221988-105221997 chr7:105221987-105221996 chr7:105221985-105221998
23	JUND	chr7:105221476-105222192	H1-hESC	embryonic stem cell:	n/a	n/a
24	SIN3AK20	chr7:105221749-105222250	A549	lung:	n/a	n/a
25	YY1	chr7:105221468-105222234	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr7:105221872-105222190	SK-N-SH	brain:	n/a	n/a
27	CREB1	chr7:105221654-105222296	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr7:105221509-105222273	H1-hESC	embryonic stem cell:	n/a	chr7:105221987-105221996 chr7:105221987-105221996 chr7:105221697-105221706 chr7:105221987-105221996 chr7:105221696-105221707 chr7:105221985-105221998
29	TCF12	chr7:105221884-105222113	H1-hESC	embryonic stem cell:	n/a	n/a
30	SP1	chr7:105221623-105222152	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr7:105221812-105222197	A549	lung:	n/a	n/a
32	TAF1	chr7:105221525-105222293	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr7:105221534-105222295	SK-N-SH	brain:	n/a	chr7:105221987-105221996 chr7:105221987-105221996 chr7:105221697-105221706 chr7:105221987-105221996 chr7:105221696-105221707 chr7:105221985-105221998
34	SIN3A	chr7:105221479-105222227	H1-hESC	embryonic stem cell:	n/a	chr7:105221698-105221707 chr7:105221986-105221995 chr7:105221696-105221705
35	USF1	chr7:105221828-105222172	GM12878	blood:	n/a	chr7:105221986-105221995 chr7:105221985-105221996 chr7:105221987-105221996 chr7:105221981-105222002 chr7:105221988-105221997 chr7:105221987-105221996 chr7:105221985-105221998
36	EP300	chr7:105221823-105222166	HepG2	liver:	n/a	n/a
37	POLR2A	chr7:105221867-105222153	HCT-116	colon:	n/a	n/a
38	CTCF	chr7:105221920-105222070	AG04449	skin:	n/a	n/a
39	POLR2A	chr7:105221668-105222265	H1-hESC	embryonic stem cell:	n/a	n/a
40	SIN3AK20	chr7:105221431-105222161	SK-N-SH	brain:	n/a	n/a
41	GATA3	chr7:105221748-105222170	MCF-7	breast:	n/a	n/a
42	CEBPB	chr7:105221807-105222312	H1-hESC	embryonic stem cell:	n/a	chr7:105222256-105222269 chr7:105222257-105222268 chr7:105222256-105222267
43	MAX	chr7:105221508-105222285	H1-hESC	embryonic stem cell:	n/a	chr7:105221987-105221996 chr7:105221987-105221996 chr7:105221697-105221706 chr7:105221987-105221996 chr7:105221696-105221707 chr7:105221985-105221998
44	ZNF143	chr7:105221629-105222234	H1-hESC	embryonic stem cell:	n/a	n/a
45	YY1	chr7:105221524-105222074	GM12892	blood:	n/a	n/a
46	CREB1	chr7:105221682-105222190	A549	lung:	n/a	n/a
47	POLR2A	chr7:105221710-105222271	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr7:105221690-105222278	H1-neurons	neurons:	n/a	n/a
49	ATF3	chr7:105221673-105222264	H1-hESC	embryonic stem cell:	n/a	chr7:105221987-105221996 chr7:105221976-105221996
50	MXI1	chr7:105220901-105222488	SK-N-SH	brain:	n/a	chr7:105221986-105221995

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:105222019-105222069	MCF-7	breast:	n/a
2	chr7:105222048-105222098	Caco-2	colon:	n/a
3	chr7:105222024-105222074	AG04450	lung:	fetal
4	chr7:105222048-105222098	HL-60	blood:	n/a
5	chr7:105222048-105222098	HCPEpiC	choroid plexus:	n/a
6	chr7:105222024-105222074	GM19239	blood:	n/a
7	chr7:105222048-105222098	IMR90	lung:	fetal
8	chr7:105222019-105222069	GM06990	blood:	n/a
9	chr7:105222019-105222069	HL-60	blood:	n/a
10	chr7:105222024-105222074	GM06990	blood:	n/a
11	chr7:105222019-105222069	AG10803	skin:	n/a
12	chr7:105222048-105222098	AG04449	skin:	fetal
13	chr7:105222048-105222098	GM12892	blood:	n/a
14	chr7:105222019-105222069	PANC-1	pancreas:	n/a
15	chr7:105222048-105222098	MCF10A-Er-Src	breast:	n/a
16	chr7:105222048-105222098	HNPCEpiC	eye:	n/a
17	chr7:105222019-105222069	GM12878	blood:	n/a
18	chr7:105222048-105222098	K562	blood:	n/a
19	chr7:105222024-105222074	HAEpiC	amniotic membrane:	n/a
20	chr7:105222019-105222069	ECC-1	luminal epithelium:	n/a
21	chr7:105222048-105222098	NHDF-neo	bronchial:	n/a
22	chr7:105222019-105222069	GM12892	blood:	n/a
23	chr7:105222024-105222074	NH-A	brain:	n/a
24	chr7:105222048-105222098	AG10803	skin:	n/a
25	chr7:105222024-105222074	AG09319	gingival:	n/a
26	chr7:105222024-105222074	SK-N-SH_RA	brain:	n/a
27	chr7:105222019-105222069	GM12891	blood:	n/a
28	chr7:105222048-105222098	HCF	heart:	n/a
29	chr7:105222024-105222074	HUVEC	blood vessel:	n/a
30	chr7:105222019-105222069	HNPCEpiC	eye:	n/a
31	chr7:105222024-105222074	Jurkat	blood:	n/a
32	chr7:105222024-105222074	HEEpiC	esophagus:	n/a
33	chr7:105222019-105222069	IMR90	lung:	fetal
34	chr7:105222048-105222098	HepG2	liver:	n/a
35	chr7:105222048-105222098	NH-A	brain:	n/a
36	chr7:105222024-105222074	NHDF-neo	bronchial:	n/a
37	chr7:105222024-105222074	SK-N-SH	brain:	n/a
38	chr7:105222019-105222069	AoSMC	blood vessel:	n/a
39	chr7:105222024-105222074	ProgFib	skin:	n/a
40	chr7:105222019-105222069	HIPEpiC	eye:	n/a
41	chr7:105222019-105222069	HRCEpiC	kidney:	n/a
42	chr7:105222019-105222069	Caco-2	colon:	n/a
43	chr7:105222019-105222069	PrEC	prostate:	n/a
44	chr7:105222019-105222069	AG04449	skin:	fetal
45	chr7:105222048-105222098	MCF-7	breast:	n/a
46	chr7:105222024-105222074	NB4	blood:	n/a
47	chr7:105222048-105222098	ProgFib	skin:	n/a
48	chr7:105222024-105222074	GM12891	blood:	n/a
49	chr7:105222024-105222074	GM12878	blood:	n/a
50	chr7:105222024-105222074	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:105171405..105173628-chr7:105221272..105223628,2	MCF-7	breast:
2	chr7:105159598..105163989-chr7:105219696..105223115,7	MCF-7	breast:
3	chr19:5690148..5691832-chr7:105220231..105223207,2	K562	blood:

Variant related genes	Relation type
EFCAB10	TF binding region
EFCAB10	CpG island
ENSG00000130255	Chromatin interaction
ENSG00000091127	Chromatin interaction
ENSG00000135249	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	nsv981568	chr7:105222012-105223485	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105220600-105222400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:105221200-105222200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr7:105221200-105222200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:105221400-105222200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:105221400-105222200	Active TSS	Brain Anterior Caudate	brain
6	chr7:105221400-105222200	Active TSS	Brain Substantia Nigra	brain
7	chr7:105221400-105222400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr7:105221400-105222400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:105221400-105222400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr7:105221400-105222400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:105221400-105222400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr7:105221400-105222400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr7:105221400-105222400	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr7:105221400-105222400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:105221400-105222400	Active TSS	Brain Angular Gyrus	brain
16	chr7:105221400-105222400	Active TSS	Brain Germinal Matrix	brain
17	chr7:105221600-105222200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:105221600-105222200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:105221600-105222200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:105221600-105222200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:105221600-105222200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:105221600-105222200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:105221600-105222200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr7:105221600-105222200	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr7:105221600-105222200	Active TSS	Primary T cells from cord blood	blood
26	chr7:105221600-105222200	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr7:105221600-105222200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
28	chr7:105221600-105222200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
29	chr7:105221600-105222200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:105221600-105222200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
31	chr7:105221600-105222200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr7:105221600-105222200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr7:105221600-105222200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:105221600-105222200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:105221600-105222200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:105221600-105222200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr7:105221600-105222200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:105221600-105222200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:105221600-105222200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:105221600-105222200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:105221600-105222200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:105221600-105222200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:105221600-105222200	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr7:105221600-105222200	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr7:105221600-105222200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:105221600-105222200	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr7:105221600-105222200	ZNF genes & repeats	Esophagus	oesophagus
48	chr7:105221600-105222200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
49	chr7:105221600-105222200	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr7:105221600-105222200	Active TSS	Fetal Kidney	kidney

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