Variant report

Variant	rs144084575
Chromosome Location	chr1:223538218-223538219
allele	C/G
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	HA-E2F1	chr1:223537180-223538300	MCF-7	breast:	n/a	chr1:223538169-223538176 chr1:223537564-223537574 chr1:223538169-223538176 chr1:223537543-223537552 chr1:223538169-223538176
2	ZNF143	chr1:223538173-223538727	H1-hESC	embryonic stem cell:	n/a	chr1:223538380-223538398 chr1:223538386-223538404
3	E2F6	chr1:223537699-223538417	H1-hESC	embryonic stem cell:	n/a	chr1:223538169-223538176 chr1:223538169-223538176 chr1:223538169-223538176 chr1:223538386-223538395 chr1:223538386-223538398 chr1:223538394-223538403
4	TEAD4	chr1:223538061-223538918	H1-hESC	embryonic stem cell:	n/a	chr1:223538648-223538657
5	MAX	chr1:223537645-223538736	H1-hESC	embryonic stem cell:	n/a	n/a
6	EBF1	chr1:223538089-223538391	GM12878	blood:	n/a	chr1:223538218-223538228 chr1:223538217-223538230 chr1:223538217-223538228 chr1:223538219-223538228 chr1:223538219-223538228
7	E2F6	chr1:223537700-223538243	K562	blood:	n/a	chr1:223538169-223538176 chr1:223538169-223538176 chr1:223538169-223538176
8	MAX	chr1:223537252-223538363	H1-hESC	embryonic stem cell:	n/a	chr1:223537542-223537552
9	CHD2	chr1:223538089-223538289	H1-hESC	embryonic stem cell:	n/a	n/a
10	ELF1	chr1:223538177-223538423	K562	blood:	n/a	n/a
11	TEAD4	chr1:223538166-223538774	H1-hESC	embryonic stem cell:	n/a	chr1:223538648-223538657
12	CTBP2	chr1:223537772-223538667	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3A	chr1:223537894-223538791	H1-hESC	embryonic stem cell:	n/a	chr1:223537953-223537964
14	TCF12	chr1:223538154-223538367	H1-hESC	embryonic stem cell:	n/a	n/a
15	MYC	chr1:223538154-223538334	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr1:223537769-223538262	H1-hESC	embryonic stem cell:	n/a	n/a
17	E2F6	chr1:223537703-223538550	H1-hESC	embryonic stem cell:	n/a	chr1:223538169-223538176 chr1:223538169-223538176 chr1:223538169-223538176 chr1:223538386-223538395 chr1:223538386-223538398 chr1:223538394-223538403
18	BACH1	chr1:223537905-223538237	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:223538174-223538224	HIPEpiC	eye:	n/a
2	chr1:223538174-223538224	AG10803	skin:	n/a
3	chr1:223538174-223538224	GM06990	blood:	n/a
4	chr1:223538174-223538224	GM12878	blood:	n/a
5	chr1:223538174-223538224	RPTEC	kidney:	n/a
6	chr1:223538174-223538224	HL-60	blood:	n/a
7	chr1:223538174-223538224	NB4	blood:	n/a
8	chr1:223538174-223538224	HepG2	liver:	n/a
9	chr1:223538174-223538224	A549	lung:	n/a
10	chr1:223538174-223538224	BE2_C	brain:	n/a
11	chr1:223538174-223538224	GM19239	blood:	n/a
12	chr1:223538174-223538224	Jurkat	blood:	n/a
13	chr1:223538174-223538224	H1-hESC	embryonic stem cell:	embryo
14	chr1:223538174-223538224	HRCEpiC	kidney:	n/a
15	chr1:223538174-223538224	AG04450	lung:	fetal
16	chr1:223538174-223538224	HEK293	kidney:	embryo
17	chr1:223538174-223538224	Hela-S3	cervix:	n/a
18	chr1:223538174-223538224	HPAEpiC	pulmonary alveolar:	n/a
19	chr1:223538174-223538224	K562	blood:	n/a
20	chr1:223538174-223538224	BJ	skin:	n/a
21	chr1:223538174-223538224	Hepatocyte	liver:	n/a
22	chr1:223538174-223538224	NT2-D1	testis:	n/a
23	chr1:223538174-223538224	PrEC	prostate:	n/a
24	chr1:223538174-223538224	SKMC	muscle:	n/a
25	chr1:223538174-223538224	SK-N-SH	brain:	n/a
26	chr1:223538174-223538224	GM12891	blood:	n/a
27	chr1:223538174-223538224	HCPEpiC	choroid plexus:	n/a
28	chr1:223538174-223538224	HRE	kidney:	n/a
29	chr1:223538174-223538224	Caco-2	colon:	n/a
30	chr1:223538174-223538224	AG04449	skin:	fetal
31	chr1:223538174-223538224	SK-N-SH_RA	brain:	n/a
32	chr1:223538174-223538224	HCF	heart:	n/a
33	chr1:223538174-223538224	ProgFib	skin:	n/a
34	chr1:223538174-223538224	LNCaP	prostate:	n/a
35	chr1:223538174-223538224	AG09309	skin:	n/a
36	chr1:223538174-223538224	NHDF-neo	bronchial:	n/a
37	chr1:223538174-223538224	MCF10A-Er-Src	breast:	n/a
38	chr1:223538174-223538224	PANC-1	pancreas:	n/a
39	chr1:223538174-223538224	CMK	blood:	n/a
40	chr1:223538174-223538224	IMR90	lung:	fetal
41	chr1:223538174-223538224	ECC-1	luminal epithelium:	n/a
42	chr1:223538174-223538224	NH-A	brain:	n/a
43	chr1:223538174-223538224	HMEC	breast:	n/a
44	chr1:223538174-223538224	NHBE	bronchial:	n/a
45	chr1:223538174-223538224	HAEpiC	amniotic membrane:	n/a
46	chr1:223538174-223538224	HEEpiC	esophagus:	n/a
47	chr1:223538174-223538224	HCT-116	colon:	n/a
48	chr1:223538174-223538224	HUVEC	blood vessel:	n/a
49	chr1:223538174-223538224	SAEC	small airway:	n/a
50	chr1:223538174-223538224	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223536038..223539069-chr1:223546089..223550790,4	MCF-7	breast:
2	chr1:223305860..223308306-chr1:223535536..223539484,5	MCF-7	breast:

Variant related genes	Relation type
SUSD4	TF binding region
SUSD4	CpG island
ENSG00000187554	Chromatin interaction
ENSG00000251789	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	nsv1010798	chr1:223498145-223538989	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv826809	chr1:223536032-223538665	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	esv3438398	chr1:223536354-223539202	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv3412152	chr1:223536929-223539252	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223535800-223538800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr1:223535800-223538800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:223535800-223538800	Active TSS	Ovary	ovary
4	chr1:223535800-223539000	Active TSS	Brain Anterior Caudate	brain
5	chr1:223536000-223538400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr1:223536000-223538600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:223536000-223538600	Active TSS	Brain Hippocampus Middle	brain
8	chr1:223536200-223538600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:223536200-223538800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:223536200-223538800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr1:223536200-223539000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:223536200-223539000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:223536200-223539000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr1:223536400-223538600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:223536600-223538400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:223536600-223538400	Active TSS	Brain Cingulate Gyrus	brain
17	chr1:223536600-223538400	Active TSS	Fetal Heart	heart
18	chr1:223536600-223538600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr1:223536600-223538600	Active TSS	Gastric	stomach
20	chr1:223536800-223538600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:223536800-223538600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr1:223536800-223538600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:223536800-223538600	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr1:223536800-223538600	Active TSS	Rectal Smooth Muscle	rectum
25	chr1:223536800-223538800	Active TSS	Brain Angular Gyrus	brain
26	chr1:223537000-223538400	Active TSS	Primary T cells from cord blood	blood
27	chr1:223537000-223538400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr1:223537000-223538600	Active TSS	Pancreas	Pancrea
29	chr1:223537000-223538600	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr1:223537200-223538400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
31	chr1:223537200-223538600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:223537200-223538600	Active TSS	Right Atrium	heart
33	chr1:223537200-223538600	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr1:223537200-223538600	Bivalent/Poised TSS	Thymus	Thymus
35	chr1:223537400-223538600	Bivalent/Poised TSS	NHEK	skin
36	chr1:223537800-223538400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:223537800-223538400	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr1:223537800-223538400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:223537800-223538400	Flanking Active TSS	Psoas Muscle	Psoas
40	chr1:223537800-223538600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:223537800-223538600	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr1:223537800-223538600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:223537800-223538800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:223538000-223538400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
45	chr1:223538000-223538400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:223538000-223538400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:223538000-223538400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:223538000-223538400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
49	chr1:223538000-223538400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
50	chr1:223538000-223538400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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