Variant report

Variant	rs549451094
Chromosome Location	chr1:241682674-241682675
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:206)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:206 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:241682673-241683553	K562	blood:	n/a	n/a
2	POLR2A	chr1:241682665-241683421	GM12891	blood:	n/a	n/a
3	EGR1	chr1:241682255-241682732	K562	blood:	n/a	chr1:241682502-241682516
4	POLR2A	chr1:241682433-241683291	HepG2	liver:	n/a	n/a
5	MAX	chr1:241682278-241683446	HepG2	liver:	n/a	chr1:241683182-241683192 chr1:241682862-241682872
6	POLR2A	chr1:241682222-241683258	HL-60	blood:	n/a	n/a
7	MAX	chr1:241682670-241683343	MCF-7	breast:	n/a	chr1:241683182-241683192 chr1:241682862-241682872
8	POLR2A	chr1:241682394-241683308	H1-hESC	embryonic stem cell:	n/a	n/a
9	GATA1	chr1:241682043-241683932	PBDE	blood:	n/a	chr1:241683246-241683257 chr1:241683570-241683579
10	MAX	chr1:241682329-241683396	K562	blood:	n/a	chr1:241683182-241683192 chr1:241682862-241682872
11	E2F6	chr1:241682167-241683465	K562	blood:	n/a	n/a
12	POLR2A	chr1:241682190-241683542	GM19099	blood:	n/a	n/a
13	ETS1	chr1:241682520-241683153	K562	blood:	n/a	chr1:241682709-241682718
14	ETS1	chr1:241682167-241683186	K562	blood:	n/a	chr1:241682709-241682718
15	HA-E2F1	chr1:241682208-241683400	MCF-7	breast:	n/a	n/a
16	MAX	chr1:241682596-241683342	H1-hESC	embryonic stem cell:	n/a	chr1:241683182-241683192 chr1:241682862-241682872
17	TAF1	chr1:241682650-241683184	HepG2	liver:	n/a	n/a
18	MAX	chr1:241682662-241683415	SK-N-SH	brain:	n/a	chr1:241683182-241683192 chr1:241682862-241682872
19	POLR2A	chr1:241682411-241683482	GM12878	blood:	n/a	n/a
20	ZNF143	chr1:241682465-241683475	GM12878	blood:	n/a	chr1:241683252-241683267 chr1:241682861-241682879 chr1:241683251-241683270
21	TCF12	chr1:241682604-241683461	ECC-1	luminal epithelium:	n/a	n/a
22	HEY1	chr1:241682214-241683427	K562	blood:	n/a	chr1:241682779-241682794
23	SIN3AK20	chr1:241682367-241683193	H1-hESC	embryonic stem cell:	n/a	n/a
24	TBP	chr1:241682359-241683471	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr1:241682602-241683465	HUVEC	blood vessel:	n/a	n/a
26	HEY1	chr1:241682674-241683391	K562	blood:	n/a	chr1:241682779-241682794
27	MAX	chr1:241682651-241683563	HCT-116	colon:	n/a	chr1:241683182-241683192 chr1:241682862-241682872
28	ELF1	chr1:241682618-241683204	K562	blood:	n/a	chr1:241683101-241683113
29	MAX	chr1:241682341-241683508	HepG2	liver:	n/a	chr1:241683182-241683192 chr1:241682862-241682872
30	POLR2A	chr1:241682595-241683241	HUVEC	blood vessel:	n/a	n/a
31	HDAC2	chr1:241682513-241683337	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr1:241682341-241683349	A549	lung:	n/a	n/a
33	SMC3	chr1:241682387-241682706	GM12878	blood:	n/a	n/a
34	GATA3	chr1:241682598-241683566	A549	lung:	n/a	chr1:241683246-241683257
35	EGR1	chr1:241682302-241682697	ECC-1	luminal epithelium:	n/a	chr1:241682502-241682516
36	CREB1	chr1:241682652-241683308	A549	lung:	n/a	n/a
37	POLR2A	chr1:241682650-241683352	HUVEC	blood vessel:	n/a	n/a
38	MAZ	chr1:241682293-241683359	Hela-S3	cervix:	n/a	chr1:241683182-241683192 chr1:241682862-241682872
39	E2F6	chr1:241682647-241683155	A549	lung:	n/a	n/a
40	POLR2A	chr1:241682337-241683369	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr1:241682292-241683525	HUVEC	blood vessel:	n/a	n/a
42	CHD1	chr1:241682260-241683621	GM12878	blood:	n/a	n/a
43	PML	chr1:241682294-241683786	K562	blood:	n/a	n/a
44	SMARCB1	chr1:241682122-241683287	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr1:241682236-241683486	GM19193	blood:	n/a	n/a
46	YY1	chr1:241682454-241683172	HepG2	liver:	n/a	n/a
47	CCNT2	chr1:241681980-241683195	K562	blood:	n/a	n/a
48	MYBL2	chr1:241682629-241683501	HepG2	liver:	n/a	n/a
49	GABPA	chr1:241682640-241682955	H1-hESC	embryonic stem cell:	n/a	n/a
50	RCOR1	chr1:241681842-241683649	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:241682627-241682677	HNPCEpiC	eye:	n/a
2	chr1:241682627-241682677	GM06990	blood:	n/a
3	chr1:241682627-241682677	PrEC	prostate:	n/a
4	chr1:241682627-241682677	ovcar-3	ovarian:	n/a
5	chr1:241682627-241682677	HPAEpiC	pulmonary alveolar:	n/a
6	chr1:241682627-241682677	NT2-D1	testis:	n/a
7	chr1:241682627-241682677	HCM	heart:	n/a
8	chr1:241682627-241682677	NH-A	brain:	n/a
9	chr1:241682627-241682677	HRE	kidney:	n/a
10	chr1:241682627-241682677	SK-N-SH_RA	brain:	n/a
11	chr1:241682627-241682677	AG09309	skin:	n/a
12	chr1:241682627-241682677	BE2_C	brain:	n/a
13	chr1:241682627-241682677	AG04449	skin:	fetal
14	chr1:241682627-241682677	AG04450	lung:	fetal
15	chr1:241682627-241682677	PANC-1	pancreas:	n/a
16	chr1:241682627-241682677	PFSK-1	brain:	n/a
17	chr1:241682627-241682677	RPTEC	kidney:	n/a
18	chr1:241682627-241682677	ProgFib	skin:	n/a
19	chr1:241682627-241682677	HEK293	kidney:	embryo
20	chr1:241682627-241682677	GM19239	blood:	n/a
21	chr1:241682627-241682677	HRPEpiC	eye:	n/a
22	chr1:241682627-241682677	BJ	skin:	n/a
23	chr1:241682627-241682677	HAEpiC	amniotic membrane:	n/a
24	chr1:241682627-241682677	MCF-7	breast:	n/a
25	chr1:241682627-241682677	HCT-116	colon:	n/a
26	chr1:241682627-241682677	NHDF-neo	bronchial:	n/a
27	chr1:241682627-241682677	AG09319	gingival:	n/a
28	chr1:241682627-241682677	Hepatocyte	liver:	n/a
29	chr1:241682627-241682677	CMK	blood:	n/a
30	chr1:241682627-241682677	U87	brain:	n/a
31	chr1:241682627-241682677	AoSMC	blood vessel:	n/a
32	chr1:241682627-241682677	ECC-1	luminal epithelium:	n/a
33	chr1:241682627-241682677	A549	lung:	n/a
34	chr1:241682627-241682677	GM12891	blood:	n/a
35	chr1:241682627-241682677	SK-N-MC	brain:	n/a
36	chr1:241682627-241682677	H1-hESC	embryonic stem cell:	embryo
37	chr1:241682627-241682677	K562	blood:	n/a
38	chr1:241682627-241682677	Jurkat	blood:	n/a
39	chr1:241682627-241682677	HCF	heart:	n/a
40	chr1:241682627-241682677	GM12892	blood:	n/a
41	chr1:241682627-241682677	Caco-2	colon:	n/a
42	chr1:241682627-241682677	IMR90	lung:	fetal
43	chr1:241682627-241682677	SAEC	small airway:	n/a
44	chr1:241682627-241682677	MCF10A-Er-Src	breast:	n/a
45	chr1:241682627-241682677	NB4	blood:	n/a
46	chr1:241682627-241682677	SKMC	muscle:	n/a
47	chr1:241682627-241682677	HMEC	breast:	n/a
48	chr1:241682627-241682677	HepG2	liver:	n/a
49	chr1:241682627-241682677	SK-N-SH	brain:	n/a
50	chr1:241682627-241682677	GM12878	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:241682514..241683274-chr10:38299405..38300057,2	Hela-S3	cervix:
2	chr1:241676840..241679427-chr1:241681305..241683481,5	MCF-7	breast:
3	chr1:241681898..241684060-chr1:242010602..242013002,4	K562	blood:
4	chr1:241680902..241684541-chr1:242009942..242012706,4	K562	blood:

No data

Variant related genes	Relation type
FH	TF binding region
FH	CpG island
ENSG00000091483	Chromatin interaction
ENSG00000189180	Chromatin interaction
ENSG00000174371	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv949442	chr1:241432051-241730054	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv549460	chr1:241494578-241833287	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1009579	chr1:241499537-241824631	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv530112	chr1:241522031-241840269	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv873371	chr1:241667244-241747838	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv3394983	chr1:241681554-241684102	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription 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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241680400-241683600	Active TSS	NHLF	lung
2	chr1:241680600-241683600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:241680600-241684000	Active TSS	A549	lung
4	chr1:241680800-241684000	Active TSS	HMEC	breast
5	chr1:241681200-241683400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:241681200-241683600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr1:241681200-241683600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:241681200-241683600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:241681200-241683800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:241681200-241683800	Active TSS	NH-A	brain
11	chr1:241681200-241684000	Active TSS	NHDF-Ad	bronchial
12	chr1:241681400-241683400	Active TSS	Right Ventricle	heart
13	chr1:241681400-241683600	Active TSS	Muscle Satellite Cultured Cells	--
14	chr1:241681400-241683800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:241681400-241683800	Active TSS	GM12878-XiMat	blood
16	chr1:241681400-241684000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:241681600-241682800	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr1:241681600-241683400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:241681600-241683400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr1:241681600-241683600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:241681600-241683800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:241681600-241683800	Active TSS	Fetal Intestine Large	intestine
23	chr1:241681600-241683800	Active TSS	Fetal Muscle Leg	muscle
24	chr1:241681600-241683800	Active TSS	Hela-S3	cervix
25	chr1:241681600-241684000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr1:241681600-241684000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:241681800-241682800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:241681800-241683200	Active TSS	Left Ventricle	heart
29	chr1:241681800-241683400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr1:241681800-241683400	Active TSS	Ovary	ovary
31	chr1:241681800-241683400	Active TSS	HSMM	muscle
32	chr1:241681800-241683600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:241681800-241683600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:241681800-241683600	Active TSS	Fetal Muscle Trunk	muscle
35	chr1:241681800-241683600	Active TSS	Fetal Thymus	thymus
36	chr1:241681800-241683600	Active TSS	Psoas Muscle	Psoas
37	chr1:241681800-241683800	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr1:241681800-241683800	Active TSS	Stomach Smooth Muscle	stomach
39	chr1:241681800-241684000	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr1:241681800-241684000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:241682000-241682800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr1:241682000-241683200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:241682000-241683200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:241682000-241683400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:241682000-241683400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:241682000-241683400	Active TSS	Aorta	Aorta
47	chr1:241682000-241683400	Active TSS	HUVEC	blood vessel
48	chr1:241682000-241683600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr1:241682000-241683600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:241682000-241683600	Active TSS	iPS-18 Cell Line	embryonic stem cell

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