Variant report

Variant	rs572612292
Chromosome Location	chr1:94703550-94703551
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:106)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:106 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:94702337-94703606	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr1:94702472-94703596	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr1:94703440-94703590	HMF	breast:	n/a	n/a
4	YY1	chr1:94703070-94703717	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr1:94703420-94703570	WERI-Rb-1	eye:	n/a	n/a
6	RAD21	chr1:94703265-94703577	H1-hESC	embryonic stem cell:	n/a	chr1:94703361-94703371
7	POLR2A	chr1:94702439-94703562	MCF10A-Er-Src	breast:	n/a	n/a
8	YY1	chr1:94702876-94703744	ECC-1	luminal epithelium:	n/a	chr1:94703021-94703035 chr1:94702933-94702942 chr1:94703021-94703030
9	POLR2A	chr1:94702081-94703654	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr1:94703440-94703590	HPAF	blood vessel:	n/a	n/a
11	RAD21	chr1:94703034-94703723	HepG2	liver:	n/a	chr1:94703361-94703371
12	CTCF	chr1:94703440-94703558	MCF-7	breast:	n/a	n/a
13	CREB1	chr1:94702943-94703626	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr1:94702215-94703729	H1-hESC	embryonic stem cell:	n/a	chr1:94702424-94702436 chr1:94703361-94703371
15	CTCF	chr1:94703420-94703570	HEK293	kidney:	n/a	n/a
16	CTCF	chr1:94703400-94703550	HCPEpiC	choroid plexus:	n/a	n/a
17	POLR2A	chr1:94702245-94703824	ECC-1	luminal epithelium:	n/a	n/a
18	MAX	chr1:94702301-94703586	ECC-1	luminal epithelium:	n/a	n/a
19	CTCF	chr1:94703420-94703570	A549	lung:	n/a	n/a
20	TCF12	chr1:94702730-94703588	ECC-1	luminal epithelium:	n/a	n/a
21	CREB1	chr1:94702378-94703584	HepG2	liver:	n/a	n/a
22	MXI1	chr1:94701410-94703664	IMR90	lung:	n/a	chr1:94702422-94702431
23	ZBTB33	chr1:94702945-94703562	HCT-116	colon:	n/a	n/a
24	CTCF	chr1:94703423-94703588	HepG2	liver:	n/a	n/a
25	SIN3AK20	chr1:94702681-94703799	HCT-116	colon:	n/a	n/a
26	E2F6	chr1:94703104-94703569	A549	lung:	n/a	chr1:94703502-94703513 chr1:94703502-94703513
27	POLR2A	chr1:94700194-94705855	PANC-1	pancreas:	n/a	n/a
28	MAX	chr1:94702367-94703678	A549	lung:	n/a	n/a
29	CTCF	chr1:94703358-94703583	A549	lung:	n/a	n/a
30	POLR2A	chr1:94702872-94703584	H1-neurons	neurons:	n/a	n/a
31	CTCF	chr1:94703268-94703615	MCF-7	breast:	n/a	n/a
32	EP300	chr1:94702676-94703713	ECC-1	luminal epithelium:	n/a	n/a
33	TAF1	chr1:94702862-94703569	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr1:94703440-94703590	HRE	kidney:	n/a	n/a
35	CTCF	chr1:94703448-94703604	Hela-S3	cervix:	n/a	n/a
36	RAD21	chr1:94703134-94703589	HepG2	liver:	n/a	chr1:94703361-94703371
37	CTCF	chr1:94703420-94703570	HEEpiC	esophagus:	n/a	n/a
38	CTCF	chr1:94703400-94703550	HBMEC	blood vessel:	n/a	n/a
39	TCF12	chr1:94703203-94703680	A549	lung:	n/a	n/a
40	HEY1	chr1:94702937-94703552	HepG2	liver:	n/a	n/a
41	YY1	chr1:94702962-94703588	SK-N-SH_RA	brain:	n/a	chr1:94703021-94703035 chr1:94703021-94703030
42	SP1	chr1:94702343-94703678	HCT-116	colon:	n/a	chr1:94703233-94703244
43	CTCF	chr1:94703485-94703559	HepG2	liver:	n/a	n/a
44	POLR2A	chr1:94702925-94703852	HepG2	liver:	n/a	n/a
45	RAD21	chr1:94702914-94703589	SK-N-SH_RA	brain:	n/a	chr1:94703361-94703371
46	NRF1	chr1:94702329-94703736	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr1:94702891-94703556	SK-N-SH	brain:	n/a	n/a
48	CTCF	chr1:94703420-94703570	MCF-7	breast:	n/a	n/a
49	CTCF	chr1:94703420-94703570	NHEK	skin:	n/a	n/a
50	POLR2A	chr1:94701676-94704719	HCT-116	colon:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:94703507-94703557	HL-60	blood:	n/a
2	chr1:94703507-94703557	HRE	kidney:	n/a
3	chr1:94703507-94703557	HMEC	breast:	n/a
4	chr1:94703507-94703557	CMK	blood:	n/a
5	chr1:94703507-94703557	A549	lung:	n/a
6	chr1:94703507-94703557	HCF	heart:	n/a
7	chr1:94703507-94703557	MCF-7	breast:	n/a
8	chr1:94703507-94703557	LNCaP	prostate:	n/a
9	chr1:94703507-94703557	HUVEC	blood vessel:	n/a
10	chr1:94703507-94703557	HEEpiC	esophagus:	n/a
11	chr1:94703507-94703557	HCPEpiC	choroid plexus:	n/a
12	chr1:94703507-94703557	SK-N-SH	brain:	n/a
13	chr1:94703507-94703557	AG04449	skin:	fetal
14	chr1:94703507-94703557	NT2-D1	testis:	n/a
15	chr1:94703507-94703557	SAEC	small airway:	n/a
16	chr1:94703507-94703557	Hepatocyte	liver:	n/a
17	chr1:94703507-94703557	BE2_C	brain:	n/a
18	chr1:94703507-94703557	BJ	skin:	n/a
19	chr1:94703507-94703557	HPAEpiC	pulmonary alveolar:	n/a
20	chr1:94703507-94703557	SKMC	muscle:	n/a
21	chr1:94703507-94703557	HIPEpiC	eye:	n/a
22	chr1:94703507-94703557	PANC-1	pancreas:	n/a
23	chr1:94703507-94703557	AoSMC	blood vessel:	n/a
24	chr1:94703507-94703557	HNPCEpiC	eye:	n/a
25	chr1:94703507-94703557	NB4	blood:	n/a
26	chr1:94703507-94703557	SK-N-SH_RA	brain:	n/a
27	chr1:94703507-94703557	U87	brain:	n/a
28	chr1:94703507-94703557	Caco-2	colon:	n/a
29	chr1:94703507-94703557	H1-hESC	embryonic stem cell:	embryo
30	chr1:94703507-94703557	MCF10A-Er-Src	breast:	n/a
31	chr1:94703507-94703557	PFSK-1	brain:	n/a
32	chr1:94703507-94703557	NHBE	bronchial:	n/a
33	chr1:94703507-94703557	PrEC	prostate:	n/a
34	chr1:94703507-94703557	IMR90	lung:	fetal
35	chr1:94703507-94703557	AG09319	gingival:	n/a
36	chr1:94703507-94703557	HEK293	kidney:	embryo
37	chr1:94703507-94703557	HepG2	liver:	n/a
38	chr1:94703507-94703557	ProgFib	skin:	n/a
39	chr1:94703507-94703557	AG09309	skin:	n/a
40	chr1:94703507-94703557	AG04450	lung:	fetal
41	chr1:94703507-94703557	GM12878	blood:	n/a
42	chr1:94703507-94703557	HRCEpiC	kidney:	n/a
43	chr1:94703507-94703557	ECC-1	luminal epithelium:	n/a
44	chr1:94703507-94703557	AG10803	skin:	n/a
45	chr1:94703507-94703557	GM12892	blood:	n/a
46	chr1:94703507-94703557	Jurkat	blood:	n/a
47	chr1:94703507-94703557	RPTEC	kidney:	n/a
48	chr1:94703507-94703557	HCT-116	colon:	n/a
49	chr1:94703507-94703557	NH-A	brain:	n/a
50	chr1:94703507-94703557	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94526735..94527649-chr1:94702636..94703585,3	MCF-7	breast:

No data

Variant related genes	Relation type
ARHGAP29	TF binding region
ARHGAP29	CpG island
ENSG00000198691	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	esv3326788	chr1:94701989-94704537	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94699200-94703600	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr1:94699600-94703800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:94700200-94703600	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr1:94700600-94703800	Active TSS	Right Atrium	heart
5	chr1:94700800-94703600	Active TSS	NHLF	lung
6	chr1:94700800-94703800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:94701000-94703600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:94701000-94703600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:94701000-94703600	Active TSS	NHDF-Ad	bronchial
10	chr1:94701000-94703800	Active TSS	Psoas Muscle	Psoas
11	chr1:94701000-94703800	Active TSS	Right Ventricle	heart
12	chr1:94701000-94704000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr1:94701200-94703600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:94701200-94703600	Active TSS	HSMM	muscle
15	chr1:94701200-94703600	Active TSS	HSMMtube	muscle
16	chr1:94701200-94703800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:94701200-94703800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:94701200-94703800	Active TSS	Left Ventricle	heart
19	chr1:94701400-94703600	Active TSS	Lung	lung
20	chr1:94701400-94703600	Active TSS	Ovary	ovary
21	chr1:94701400-94703600	Active TSS	A549	lung
22	chr1:94701400-94703800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:94701600-94703600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
24	chr1:94701600-94703600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
25	chr1:94701600-94703600	Active TSS	Placenta Amnion	Placenta Amnion
26	chr1:94701600-94703800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:94701600-94704000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr1:94701800-94703600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:94701800-94703600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:94701800-94703600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:94701800-94703800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
32	chr1:94701800-94703800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:94701800-94704000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr1:94701800-94704000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
35	chr1:94702000-94703600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:94702000-94703600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr1:94702000-94703600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
38	chr1:94702000-94703600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
39	chr1:94702000-94703800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:94702200-94703600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:94702200-94704200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
42	chr1:94702200-94704200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr1:94702400-94703600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr1:94702400-94703600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr1:94702400-94703600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:94702400-94703600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:94702400-94703600	Active TSS	Gastric	stomach
48	chr1:94702400-94703800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:94702600-94703600	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr1:94702600-94703600	Bivalent/Poised TSS	Fetal Brain Female	brain

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