Variant report

Variant	rs568949677
Chromosome Location	chr1:94713259-94713260
allele	-/CAC/CACCACCAC
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	POLR2A	chr1:94712130-94713689	ECC-1	luminal epithelium:	n/a	n/a
2	RCOR1	chr1:94713185-94713378	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr1:94713142-94713784	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:94713091-94713517	A549	lung:	n/a	n/a
5	NFIC	chr1:94713145-94713634	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr1:94713094-94713554	PFSK-1	brain:	n/a	n/a
7	E2F6	chr1:94713187-94713555	K562	blood:	n/a	chr1:94713374-94713383 chr1:94713403-94713413
8	PAX5	chr1:94713190-94713504	GM12892	blood:	n/a	n/a
9	POLR2A	chr1:94713127-94713551	HepG2	liver:	n/a	n/a
10	MAX	chr1:94712768-94713924	ECC-1	luminal epithelium:	n/a	n/a
11	HEY1	chr1:94713050-94713569	HepG2	liver:	n/a	chr1:94713362-94713377
12	CREB1	chr1:94713163-94713607	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAZ	chr1:94713165-94713584	K562	blood:	n/a	n/a
14	HEY1	chr1:94713121-94713560	HepG2	liver:	n/a	chr1:94713362-94713377
15	HDAC2	chr1:94713139-94713585	HepG2	liver:	n/a	n/a
16	SIN3AK20	chr1:94713210-94713376	PFSK-1	brain:	n/a	n/a
17	EGR1	chr1:94712959-94713499	H1-hESC	embryonic stem cell:	n/a	chr1:94713373-94713383 chr1:94713047-94713056 chr1:94713201-94713214 chr1:94713361-94713371
18	MAZ	chr1:94713191-94713640	HepG2	liver:	n/a	n/a
19	MXI1	chr1:94713183-94713483	Hela-S3	cervix:	n/a	n/a
20	FOXP2	chr1:94712967-94713430	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr1:94712953-94713569	Gliobla	brain:	n/a	n/a
22	CEBPB	chr1:94713255-94713444	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr1:94713088-94713668	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr1:94713123-94713371	A549	lung:	n/a	n/a
25	MXI1	chr1:94712669-94713561	HepG2	liver:	n/a	n/a
26	YY1	chr1:94712823-94713638	ECC-1	luminal epithelium:	n/a	chr1:94713046-94713060 chr1:94713083-94713092 chr1:94713311-94713325 chr1:94713321-94713332 chr1:94713374-94713383 chr1:94713200-94713209 chr1:94713284-94713293 chr1:94713171-94713185 chr1:94713321-94713335 chr1:94713171-94713180 chr1:94712956-94712970 chr1:94713361-94713375 chr1:94713043-94713057
27	UBTF	chr1:94713229-94713468	K562	blood:	n/a	n/a
28	SIN3AK20	chr1:94712559-94713629	PANC-1	pancreas:	n/a	n/a
29	YY1	chr1:94713083-94713579	H1-hESC	embryonic stem cell:	n/a	chr1:94713083-94713092 chr1:94713311-94713325 chr1:94713321-94713332 chr1:94713374-94713383 chr1:94713200-94713209 chr1:94713284-94713293 chr1:94713171-94713185 chr1:94713321-94713335 chr1:94713171-94713180 chr1:94713361-94713375
30	FOSL1	chr1:94712862-94713499	H1-hESC	embryonic stem cell:	n/a	chr1:94713115-94713123 chr1:94713373-94713382
31	POLR2A	chr1:94713094-94713560	HepG2	liver:	n/a	n/a
32	TAF1	chr1:94713005-94713717	ECC-1	luminal epithelium:	n/a	n/a
33	HA-E2F1	chr1:94712767-94713619	Hela-S3	cervix:	n/a	chr1:94713374-94713383 chr1:94713403-94713413
34	POLR2A	chr1:94713038-94713561	A549	lung:	n/a	n/a
35	CHD1	chr1:94712476-94713714	IMR90	lung:	n/a	n/a
36	NRF1	chr1:94713130-94713459	H1-hESC	embryonic stem cell:	n/a	chr1:94713374-94713383
37	MAX	chr1:94713157-94713533	Hela-S3	cervix:	n/a	n/a
38	YY1	chr1:94712786-94713623	HepG2	liver:	n/a	chr1:94713046-94713060 chr1:94713083-94713092 chr1:94713311-94713325 chr1:94713321-94713332 chr1:94713374-94713383 chr1:94713200-94713209 chr1:94713284-94713293 chr1:94713171-94713185 chr1:94713321-94713335 chr1:94713171-94713180 chr1:94712956-94712970 chr1:94713361-94713375 chr1:94713043-94713057
39	RUNX3	chr1:94713112-94713380	GM12878	blood:	n/a	n/a
40	RAD21	chr1:94713246-94713462	IMR90	lung:	n/a	n/a
41	RCOR1	chr1:94713233-94713495	K562	blood:	n/a	n/a
42	FOS	chr1:94713176-94713376	HUVEC	blood vessel:	n/a	n/a
43	SIN3AK20	chr1:94712607-94713666	SK-N-SH	brain:	n/a	n/a
44	TCF7L2	chr1:94713199-94713590	Hela-S3	cervix:	n/a	n/a
45	ZNF143	chr1:94712758-94713465	H1-hESC	embryonic stem cell:	n/a	chr1:94713044-94713054 chr1:94712957-94712967 chr1:94713441-94713451 chr1:94713312-94713322
46	POLR2A	chr1:94713061-94713480	SK-N-SH	brain:	n/a	n/a
47	EP300	chr1:94713132-94713498	T-47D	breast:	n/a	chr1:94713313-94713329 chr1:94713367-94713383 chr1:94713282-94713291 chr1:94713200-94713209 chr1:94713316-94713325 chr1:94713363-94713379
48	YY1	chr1:94713039-94713492	SK-N-SH_RA	brain:	n/a	chr1:94713046-94713060 chr1:94713083-94713092 chr1:94713311-94713325 chr1:94713321-94713332 chr1:94713374-94713383 chr1:94713200-94713209 chr1:94713284-94713293 chr1:94713171-94713185 chr1:94713321-94713335 chr1:94713171-94713180 chr1:94713361-94713375 chr1:94713043-94713057
49	HA-E2F1	chr1:94712676-94713779	MCF-7	breast:	n/a	chr1:94713374-94713383 chr1:94713403-94713413
50	MYC	chr1:94713180-94713437	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:94713218-94713268	SK-N-SH_RA	brain:	n/a
2	chr1:94713218-94713268	AG09309	skin:	n/a
3	chr1:94713218-94713268	NB4	blood:	n/a
4	chr1:94713229-94713279	HRCEpiC	kidney:	n/a
5	chr1:94713229-94713279	SK-N-SH	brain:	n/a
6	chr1:94713218-94713268	AG04449	skin:	fetal
7	chr1:94713229-94713279	HAEpiC	amniotic membrane:	n/a
8	chr1:94713218-94713268	NHBE	bronchial:	n/a
9	chr1:94713229-94713279	Hela-S3	cervix:	n/a
10	chr1:94713229-94713279	NB4	blood:	n/a
11	chr1:94713229-94713279	HCPEpiC	choroid plexus:	n/a
12	chr1:94713229-94713279	NT2-D1	testis:	n/a
13	chr1:94713218-94713268	AG09319	gingival:	n/a
14	chr1:94713229-94713279	GM12878	blood:	n/a
15	chr1:94713218-94713268	GM19239	blood:	n/a
16	chr1:94713229-94713279	HL-60	blood:	n/a
17	chr1:94713218-94713268	SK-N-SH	brain:	n/a
18	chr1:94713229-94713279	NH-A	brain:	n/a
19	chr1:94713218-94713268	Hela-S3	cervix:	n/a
20	chr1:94713218-94713268	HRPEpiC	eye:	n/a
21	chr1:94713229-94713279	HPAEpiC	pulmonary alveolar:	n/a
22	chr1:94713229-94713279	Hepatocyte	liver:	n/a
23	chr1:94713229-94713279	AG09309	skin:	n/a
24	chr1:94713218-94713268	GM12891	blood:	n/a
25	chr1:94713229-94713279	SK-N-MC	brain:	n/a
26	chr1:94713218-94713268	HepG2	liver:	n/a
27	chr1:94713218-94713268	ovcar-3	ovarian:	n/a
28	chr1:94713218-94713268	HRE	kidney:	n/a
29	chr1:94713229-94713279	HEK293	kidney:	embryo
30	chr1:94713218-94713268	HIPEpiC	eye:	n/a
31	chr1:94713229-94713279	MCF-7	breast:	n/a
32	chr1:94713218-94713268	SKMC	muscle:	n/a
33	chr1:94713229-94713279	AoSMC	blood vessel:	n/a
34	chr1:94713229-94713279	IMR90	lung:	fetal
35	chr1:94713229-94713279	U87	brain:	n/a
36	chr1:94713218-94713268	AG04450	lung:	fetal
37	chr1:94713218-94713268	HEEpiC	esophagus:	n/a
38	chr1:94713229-94713279	PrEC	prostate:	n/a
39	chr1:94713229-94713279	SK-N-SH_RA	brain:	n/a
40	chr1:94713218-94713268	K562	blood:	n/a
41	chr1:94713218-94713268	HCM	heart:	n/a
42	chr1:94713218-94713268	PFSK-1	brain:	n/a
43	chr1:94713229-94713279	HMEC	breast:	n/a
44	chr1:94713229-94713279	T-47D	breast:	n/a
45	chr1:94713229-94713279	HEEpiC	esophagus:	n/a
46	chr1:94713229-94713279	RPTEC	kidney:	n/a
47	chr1:94713229-94713279	BE2_C	brain:	n/a
48	chr1:94713229-94713279	PFSK-1	brain:	n/a
49	chr1:94713229-94713279	HIPEpiC	eye:	n/a
50	chr1:94713218-94713268	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94701840..94705805-chr1:94711160..94713439,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231363	TF binding region
ENSG00000231363	CpG island
ENSG00000137962	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	nsv428510	chr1:94709575-94866655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3376734	chr1:94711789-94714337	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3450788	chr1:94712164-94714562	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3356061	chr1:94712189-94714737	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94709800-94713600	Active TSS	Right Atrium	heart
2	chr1:94710000-94713600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:94711000-94713400	Active TSS	Muscle Satellite Cultured Cells	--
4	chr1:94711000-94713800	Active TSS	Psoas Muscle	Psoas
5	chr1:94711200-94713800	Active TSS	Left Ventricle	heart
6	chr1:94711200-94713800	Active TSS	Right Ventricle	heart
7	chr1:94711400-94713600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:94711600-94713400	Active TSS	NHEK	skin
9	chr1:94711600-94713600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:94711600-94713600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:94711600-94713600	Active TSS	A549	lung
12	chr1:94711600-94713600	Active TSS	NHDF-Ad	bronchial
13	chr1:94711600-94713600	Active TSS	Osteobl	bone
14	chr1:94711800-94713400	Active TSS	HMEC	breast
15	chr1:94711800-94713400	Active TSS	HUVEC	blood vessel
16	chr1:94711800-94713400	Active TSS	NH-A	brain
17	chr1:94711800-94713600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr1:94711800-94713600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:94711800-94713800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:94712000-94713600	Active TSS	HSMM	muscle
21	chr1:94712000-94714000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:94712000-94714000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr1:94712200-94713400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:94712200-94713400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:94712200-94713400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
26	chr1:94712200-94713600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:94712200-94713600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:94712200-94713600	Active TSS	Lung	lung
29	chr1:94712200-94713800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr1:94712200-94713800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
31	chr1:94712200-94713800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr1:94712200-94713800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:94712200-94713800	Active TSS	Aorta	Aorta
34	chr1:94712200-94714000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr1:94712200-94714000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr1:94712200-94714000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr1:94712400-94713600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr1:94712400-94713600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
39	chr1:94712400-94713600	Active TSS	Brain Substantia Nigra	brain
40	chr1:94712400-94713600	Active TSS	Gastric	stomach
41	chr1:94712400-94713800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:94712400-94713800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:94712400-94714000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr1:94712600-94713400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:94712600-94713400	Active TSS	Liver	Liver
46	chr1:94712600-94713400	Active TSS	HepG2	liver
47	chr1:94712600-94713600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:94712600-94713600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr1:94712600-94713600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:94712600-94713600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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