Variant report

Variant	rs545319868
Chromosome Location	chr1:171810301-171810302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:123)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:123 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr1:171810124-171810790	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr1:171810116-171811098	H1-hESC	embryonic stem cell:	n/a	n/a
3	SP1	chr1:171810160-171810920	A549	lung:	n/a	chr1:171810589-171810599 chr1:171810589-171810599
4	POLR2A	chr1:171810079-171811012	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr1:171810141-171810808	HCT-116	colon:	n/a	n/a
6	MAX	chr1:171810196-171810847	K562	blood:	n/a	n/a
7	MAX	chr1:171810118-171810925	ECC-1	luminal epithelium:	n/a	n/a
8	TAF1	chr1:171810222-171810925	H1-neurons	neurons:	n/a	n/a
9	CTCF	chr1:171810260-171810410	WERI-Rb-1	eye:	n/a	n/a
10	POLR2A	chr1:171810240-171810658	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr1:171810065-171810913	ECC-1	luminal epithelium:	n/a	n/a
12	MYC	chr1:171810227-171810627	NB4	blood:	n/a	n/a
13	NFIC	chr1:171810164-171810915	ECC-1	luminal epithelium:	n/a	n/a
14	RFX5	chr1:171810237-171810594	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr1:171810056-171810854	U87	brain:	n/a	n/a
16	RCOR1	chr1:171810249-171810898	K562	blood:	n/a	n/a
17	POLR2A	chr1:171810227-171810983	Gliobla	brain:	n/a	n/a
18	CTBP2	chr1:171809927-171811753	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr1:171810178-171812161	H1-neurons	neurons:	n/a	n/a
20	ETS1	chr1:171810233-171810524	A549	lung:	n/a	chr1:171810258-171810271 chr1:171810415-171810426 chr1:171810257-171810270
21	POLR2A	chr1:171810165-171810823	A549	lung:	n/a	n/a
22	RAD21	chr1:171810099-171810952	H1-hESC	embryonic stem cell:	n/a	chr1:171810676-171810690
23	MXI1	chr1:171810066-171810884	H1-hESC	embryonic stem cell:	n/a	n/a
24	GATA2	chr1:171809725-171811031	SH-SY5Y	brain:	n/a	n/a
25	POLR2A	chr1:171810164-171810546	Hela-S3	cervix:	n/a	n/a
26	TAF1	chr1:171810247-171810476	K562	blood:	n/a	n/a
27	SIN3AK20	chr1:171810120-171811085	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr1:171810260-171810410	RPTEC	kidney:	n/a	n/a
29	POLR2A	chr1:171810143-171810859	HCT-116	colon:	n/a	n/a
30	MAZ	chr1:171810291-171811276	K562	blood:	n/a	chr1:171811164-171811174
31	SP4	chr1:171810253-171810852	H1-hESC	embryonic stem cell:	n/a	chr1:171810586-171810602
32	RCOR1	chr1:171810183-171810755	Hela-S3	cervix:	n/a	n/a
33	BACH1	chr1:171810155-171810484	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr1:171810289-171810346	NHEK	skin:	n/a	n/a
35	GTF2F1	chr1:171810204-171810522	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr1:171810276-171810880	SK-N-SH	brain:	n/a	n/a
37	REST	chr1:171810239-171810991	H1-neurons	neurons:	n/a	chr1:171810499-171810512 chr1:171810699-171810712 chr1:171810391-171810409 chr1:171810714-171810727 chr1:171810693-171810706
38	POLR2A	chr1:171810171-171810609	H1-hESC	embryonic stem cell:	n/a	n/a
39	MYC	chr1:171810177-171810522	K562	blood:	n/a	n/a
40	CTCF	chr1:171810200-171810350	AoAF	blood vessel:	n/a	n/a
41	SIN3A	chr1:171809832-171811934	H1-hESC	embryonic stem cell:	n/a	chr1:171811057-171811066 chr1:171810699-171810712 chr1:171810986-171810997
42	MXI1	chr1:171810075-171810590	Hela-S3	cervix:	n/a	n/a
43	MAZ	chr1:171810279-171810713	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr1:171810061-171810895	H1-hESC	embryonic stem cell:	n/a	n/a
45	ATF2	chr1:171810038-171810496	H1-hESC	embryonic stem cell:	n/a	n/a
46	TAF1	chr1:171810069-171810986	ECC-1	luminal epithelium:	n/a	n/a
47	TAF1	chr1:171810255-171810810	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr1:171810095-171811078	ECC-1	luminal epithelium:	n/a	n/a
49	MAX	chr1:171810220-171810982	K562	blood:	n/a	n/a
50	REST	chr1:171809983-171812296	H1-neurons	neurons:	n/a	chr1:171810499-171810512 chr1:171810699-171810712 chr1:171811273-171811293 chr1:171811108-171811121 chr1:171811780-171811793 chr1:171810391-171810409 chr1:171810714-171810727 chr1:171810693-171810706

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:171810300-171810350	ECC-1	luminal epithelium:	n/a
2	chr1:171810300-171810350	PrEC	prostate:	n/a
3	chr1:171810300-171810350	ovcar-3	ovarian:	n/a
4	chr1:171810300-171810350	NHDF-neo	bronchial:	n/a
5	chr1:171810300-171810350	HIPEpiC	eye:	n/a
6	chr1:171810300-171810350	GM06990	blood:	n/a
7	chr1:171810300-171810350	NH-A	brain:	n/a
8	chr1:171810300-171810350	PANC-1	pancreas:	n/a
9	chr1:171810300-171810350	HepG2	liver:	n/a
10	chr1:171810300-171810350	AG10803	skin:	n/a
11	chr1:171810300-171810350	NB4	blood:	n/a
12	chr1:171810300-171810350	HEK293	kidney:	embryo
13	chr1:171810300-171810350	MCF-7	breast:	n/a
14	chr1:171810300-171810350	PFSK-1	brain:	n/a
15	chr1:171810300-171810350	HRE	kidney:	n/a
16	chr1:171810300-171810350	Caco-2	colon:	n/a
17	chr1:171810300-171810350	NT2-D1	testis:	n/a
18	chr1:171810300-171810350	HAEpiC	amniotic membrane:	n/a
19	chr1:171810300-171810350	Hela-S3	cervix:	n/a
20	chr1:171810300-171810350	BJ	skin:	n/a
21	chr1:171810300-171810350	HNPCEpiC	eye:	n/a
22	chr1:171810300-171810350	GM12891	blood:	n/a
23	chr1:171810300-171810350	BE2_C	brain:	n/a
24	chr1:171810300-171810350	AG09319	gingival:	n/a
25	chr1:171810300-171810350	AG04450	lung:	fetal
26	chr1:171810300-171810350	HRCEpiC	kidney:	n/a
27	chr1:171810300-171810350	SK-N-SH_RA	brain:	n/a
28	chr1:171810300-171810350	A549	lung:	n/a
29	chr1:171810300-171810350	SAEC	small airway:	n/a
30	chr1:171810300-171810350	Jurkat	blood:	n/a
31	chr1:171810300-171810350	H1-hESC	embryonic stem cell:	embryo
32	chr1:171810300-171810350	U87	brain:	n/a
33	chr1:171810300-171810350	IMR90	lung:	fetal
34	chr1:171810300-171810350	HEEpiC	esophagus:	n/a
35	chr1:171810300-171810350	CMK	blood:	n/a
36	chr1:171810300-171810350	HPAEpiC	pulmonary alveolar:	n/a
37	chr1:171810300-171810350	T-47D	breast:	n/a
38	chr1:171810300-171810350	HMEC	breast:	n/a
39	chr1:171810300-171810350	HL-60	blood:	n/a
40	chr1:171810300-171810350	RPTEC	kidney:	n/a
41	chr1:171810300-171810350	AG09309	skin:	n/a
42	chr1:171810300-171810350	GM12892	blood:	n/a
43	chr1:171810300-171810350	K562	blood:	n/a
44	chr1:171810300-171810350	ProgFib	skin:	n/a
45	chr1:171810300-171810350	MCF10A-Er-Src	breast:	n/a
46	chr1:171810300-171810350	GM19239	blood:	n/a
47	chr1:171810300-171810350	HCPEpiC	choroid plexus:	n/a
48	chr1:171810300-171810350	SKMC	muscle:	n/a
49	chr1:171810300-171810350	HCF	heart:	n/a
50	chr1:171810300-171810350	HRPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:171808145..171810484-chr1:171812590..171815013,2	MCF-7	breast:
2	chr1:171810010..171810826-chr15:65588123..65588647,2	Hela-S3	cervix:
3	chr1:11969663..11970170-chr1:171810089..171811020,2	HCT-116	colon:

No data

Variant related genes	Relation type
DNM3	TF binding region
DNM3	CpG island
ENSG00000199568	Chromatin interaction
ENSG00000201801	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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3325612	chr1:171809554-171812102	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats 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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171809600-171810600	ZNF genes & repeats	Liver	Liver
2	chr1:171809800-171810400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr1:171809800-171810400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:171809800-171810400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:171809800-171810400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:171809800-171810600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:171809800-171810600	Flanking Active TSS	HMEC	breast
8	chr1:171809800-171810800	Active TSS	Stomach Smooth Muscle	stomach
9	chr1:171809800-171811200	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
10	chr1:171809800-171811200	Active TSS	NHLF	lung
11	chr1:171809800-171811400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:171809800-171811400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:171809800-171811400	Active TSS	HSMM	muscle
14	chr1:171809800-171811600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr1:171809800-171811600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:171809800-171811800	Active TSS	Rectal Smooth Muscle	rectum
17	chr1:171809800-171812000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:171809800-171812000	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr1:171809800-171812200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr1:171809800-171812600	Active TSS	Brain Hippocampus Middle	brain
21	chr1:171809800-171812600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:171809800-171813800	Active TSS	Brain Cingulate Gyrus	brain
23	chr1:171810000-171810400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:171810000-171810400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:171810000-171810400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
26	chr1:171810000-171810400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
27	chr1:171810000-171810400	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr1:171810000-171810400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr1:171810000-171810400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr1:171810000-171810400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr1:171810000-171810400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr1:171810000-171810400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:171810000-171810400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:171810000-171810400	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr1:171810000-171810400	Flanking Active TSS	Esophagus	oesophagus
36	chr1:171810000-171810400	Flanking Active TSS	Fetal Brain Female	brain
37	chr1:171810000-171810400	Flanking Active TSS	Pancreas	Pancrea
38	chr1:171810000-171810400	Flanking Active TSS	Thymus	Thymus
39	chr1:171810000-171810400	Flanking Active TSS	GM12878-XiMat	blood
40	chr1:171810000-171810400	Flanking Active TSS	HUVEC	blood vessel
41	chr1:171810000-171810400	Flanking Active TSS	K562	blood
42	chr1:171810000-171810400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
43	chr1:171810000-171810400	Flanking Active TSS	NH-A	brain
44	chr1:171810000-171810400	Flanking Active TSS	NHEK	skin
45	chr1:171810000-171810600	Active TSS	Primary B cells from cord blood	blood
46	chr1:171810000-171810600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr1:171810000-171810600	Active TSS	Colonic Mucosa	Colon
48	chr1:171810000-171810600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr1:171810000-171810600	Active TSS	HSMMtube	muscle
50	chr1:171810000-171810800	Active TSS	Psoas Muscle	Psoas

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