Variant report

Variant	rs527294851
Chromosome Location	chr1:95007627-95007628
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	TBP	chr1:95007342-95008198	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:95005611-95008251	Hela-S3	cervix:	n/a	n/a
3	FOSL1	chr1:95006931-95008022	HCT-116	colon:	n/a	chr1:95007517-95007527 chr1:95007516-95007528 chr1:95007518-95007527 chr1:95007517-95007526 chr1:95007518-95007525
4	JUN	chr1:95007410-95007836	Hela-S3	cervix:	n/a	chr1:95007517-95007527 chr1:95007516-95007528 chr1:95007518-95007527 chr1:95007517-95007526 chr1:95007518-95007525
5	POLR2A	chr1:95007438-95007676	U87	brain:	n/a	n/a
6	JUND	chr1:95007318-95007742	HepG2	liver:	n/a	chr1:95007517-95007527 chr1:95007516-95007528 chr1:95007518-95007527 chr1:95007517-95007526 chr1:95007518-95007525 chr1:95007516-95007527
7	MAZ	chr1:95006679-95007730	HepG2	liver:	n/a	chr1:95006717-95006724 chr1:95006812-95006821
8	JUN	chr1:95007458-95007640	HepG2	liver:	n/a	chr1:95007517-95007527 chr1:95007516-95007528 chr1:95007518-95007527 chr1:95007517-95007526 chr1:95007518-95007525
9	FOSL1	chr1:95007030-95007921	HCT-116	colon:	n/a	chr1:95007517-95007527 chr1:95007516-95007528 chr1:95007518-95007527 chr1:95007517-95007526 chr1:95007518-95007525
10	EGR1	chr1:95007050-95007924	HCT-116	colon:	n/a	chr1:95007475-95007485 chr1:95007384-95007398 chr1:95007410-95007424 chr1:95007477-95007490
11	GTF2F1	chr1:95007247-95008830	Hela-S3	cervix:	n/a	n/a
12	JUND	chr1:95007371-95007864	MCF-7	breast:	n/a	chr1:95007517-95007527 chr1:95007516-95007528 chr1:95007518-95007527 chr1:95007517-95007526 chr1:95007518-95007525 chr1:95007516-95007527
13	POLR2A	chr1:95007451-95007670	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr1:95007426-95007681	H1-hESC	embryonic stem cell:	n/a	n/a
15	MYBL2	chr1:95007424-95007890	HepG2	liver:	n/a	n/a
16	RAD21	chr1:95007382-95007977	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr1:95006515-95007722	ECC-1	luminal epithelium:	n/a	chr1:95006717-95006724 chr1:95006812-95006821
18	JUND	chr1:95007381-95007689	H1-hESC	embryonic stem cell:	n/a	chr1:95007517-95007527 chr1:95007516-95007528 chr1:95007518-95007527 chr1:95007517-95007526 chr1:95007518-95007525 chr1:95007516-95007527
19	YY1	chr1:95006746-95007703	HepG2	liver:	n/a	chr1:95007468-95007479 chr1:95006869-95006880
20	MAZ	chr1:95006424-95007855	Hela-S3	cervix:	n/a	chr1:95006717-95006724 chr1:95006812-95006821
21	RAD21	chr1:95007068-95007716	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr1:95007031-95007714	Gliobla	brain:	n/a	n/a
23	EP300	chr1:95007359-95007684	SK-N-SH_RA	brain:	n/a	chr1:95007518-95007527
24	FOS	chr1:95007365-95007785	MCF10A-Er-Src	breast:	n/a	chr1:95007516-95007527 chr1:95007517-95007527 chr1:95007516-95007528 chr1:95007518-95007527 chr1:95007517-95007526 chr1:95007518-95007525
25	TAF1	chr1:95006872-95007705	HepG2	liver:	n/a	n/a
26	POLR2A	chr1:95007389-95007767	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr1:95007397-95007674	A549	lung:	n/a	n/a
28	TBP	chr1:95007141-95007710	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr1:95006578-95007853	Hela-S3	cervix:	n/a	n/a
30	SMARCC1	chr1:95007449-95008267	Hela-S3	cervix:	n/a	chr1:95007517-95007526 chr1:95007518-95007527
31	FOS	chr1:95007385-95007713	MCF10A-Er-Src	breast:	n/a	chr1:95007516-95007527 chr1:95007517-95007527 chr1:95007516-95007528 chr1:95007518-95007527 chr1:95007517-95007526 chr1:95007518-95007525
32	POLR2A	chr1:95007380-95007732	SK-N-SH	brain:	n/a	n/a
33	TCF12	chr1:95006785-95007899	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr1:95007381-95007791	PFSK-1	brain:	n/a	n/a
35	TBP	chr1:95007436-95007697	HepG2	liver:	n/a	n/a
36	POLR2A	chr1:95007426-95007683	HepG2	liver:	n/a	n/a
37	CREB1	chr1:95007353-95007719	A549	lung:	n/a	n/a
38	BACH1	chr1:95006990-95008182	H1-hESC	embryonic stem cell:	n/a	chr1:95007515-95007529
39	POLR2A	chr1:95006964-95007899	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr1:95006048-95007983	Hela-S3	cervix:	n/a	n/a
41	EGR1	chr1:95007172-95007632	K562	blood:	n/a	chr1:95007475-95007485 chr1:95007384-95007398 chr1:95007410-95007424 chr1:95007477-95007490
42	POLR2A	chr1:95006942-95007764	HEK293	kidney:	n/a	n/a
43	POLR2A	chr1:94991604-95010849	IMR90	lung:	n/a	n/a
44	ATF3	chr1:95007406-95007641	HepG2	liver:	n/a	n/a
45	EP300	chr1:95007224-95008277	SK-N-SH	brain:	n/a	chr1:95007518-95007527 chr1:95008212-95008226 chr1:95008206-95008220
46	JUND	chr1:95007400-95007708	H1-hESC	embryonic stem cell:	n/a	chr1:95007517-95007527 chr1:95007516-95007528 chr1:95007518-95007527 chr1:95007517-95007526 chr1:95007518-95007525 chr1:95007516-95007527
47	HA-E2F1	chr1:95006261-95007853	MCF-7	breast:	n/a	chr1:95007476-95007485
48	TAF1	chr1:95007376-95007774	H1-hESC	embryonic stem cell:	n/a	n/a
49	TAF1	chr1:95007365-95007683	HepG2	liver:	n/a	n/a
50	JUND	chr1:95007348-95007666	HepG2	liver:	n/a	chr1:95007517-95007527 chr1:95007516-95007528 chr1:95007518-95007527 chr1:95007517-95007526 chr1:95007518-95007525 chr1:95007516-95007527

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:95007593-95007643	HL-60	blood:	n/a
2	chr1:95007593-95007643	AG09309	skin:	n/a
3	chr1:95007593-95007643	AG09319	gingival:	n/a
4	chr1:95007593-95007643	MCF10A-Er-Src	breast:	n/a
5	chr1:95007593-95007643	CMK	blood:	n/a
6	chr1:95007593-95007643	SK-N-SH_RA	brain:	n/a
7	chr1:95007593-95007643	HUVEC	blood vessel:	n/a
8	chr1:95007593-95007643	AG10803	skin:	n/a
9	chr1:95007593-95007643	T-47D	breast:	n/a
10	chr1:95007593-95007643	U87	brain:	n/a
11	chr1:95007593-95007643	RPTEC	kidney:	n/a
12	chr1:95007593-95007643	Caco-2	colon:	n/a
13	chr1:95007593-95007643	LNCaP	prostate:	n/a
14	chr1:95007593-95007643	AG04450	lung:	fetal
15	chr1:95007593-95007643	SAEC	small airway:	n/a
16	chr1:95007593-95007643	Hela-S3	cervix:	n/a
17	chr1:95007593-95007643	PANC-1	pancreas:	n/a
18	chr1:95007593-95007643	HCT-116	colon:	n/a
19	chr1:95007593-95007643	HCM	heart:	n/a
20	chr1:95007593-95007643	Jurkat	blood:	n/a
21	chr1:95007593-95007643	ProgFib	skin:	n/a
22	chr1:95007593-95007643	MCF-7	breast:	n/a
23	chr1:95007593-95007643	H1-hESC	embryonic stem cell:	embryo
24	chr1:95007593-95007643	NHBE	bronchial:	n/a
25	chr1:95007593-95007643	AoSMC	blood vessel:	n/a
26	chr1:95007593-95007643	Hepatocyte	liver:	n/a
27	chr1:95007593-95007643	K562	blood:	n/a
28	chr1:95007593-95007643	HMEC	breast:	n/a
29	chr1:95007593-95007643	HRPEpiC	eye:	n/a
30	chr1:95007593-95007643	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:95007593-95007643	SK-N-MC	brain:	n/a
32	chr1:95007593-95007643	GM12891	blood:	n/a
33	chr1:95007593-95007643	HEEpiC	esophagus:	n/a
34	chr1:95007593-95007643	HCF	heart:	n/a
35	chr1:95007593-95007643	GM12892	blood:	n/a
36	chr1:95007593-95007643	HRCEpiC	kidney:	n/a
37	chr1:95007593-95007643	HAEpiC	amniotic membrane:	n/a
38	chr1:95007593-95007643	NHDF-neo	bronchial:	n/a
39	chr1:95007593-95007643	BE2_C	brain:	n/a
40	chr1:95007593-95007643	IMR90	lung:	fetal
41	chr1:95007593-95007643	ECC-1	luminal epithelium:	n/a
42	chr1:95007593-95007643	PFSK-1	brain:	n/a
43	chr1:95007593-95007643	PrEC	prostate:	n/a
44	chr1:95007593-95007643	NB4	blood:	n/a
45	chr1:95007593-95007643	BJ	skin:	n/a
46	chr1:95007593-95007643	HNPCEpiC	eye:	n/a
47	chr1:95007593-95007643	ovcar-3	ovarian:	n/a
48	chr1:95007593-95007643	GM12878	blood:	n/a
49	chr1:95007593-95007643	AG04449	skin:	fetal
50	chr1:95007593-95007643	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95001173..95003691-chr1:95006398..95009153,2	MCF-7	breast:
2	chr1:95006856..95007717-chr15:75932354..75933289,2	NB4	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCD3-1	chr1:95007608-95007649	XLOC_000302
2	lnc-ABCD3-1	chr1:95007516-95008786	NONHSAT004594

Variant related genes	Relation type
F3	TF binding region
F3	CpG island
ENSG00000117525	Chromatin interaction
ENSG00000177971	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	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3437143	chr1:95006189-95008737	Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95001600-95007800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:95001800-95007800	Active TSS	Brain Hippocampus Middle	brain
3	chr1:95003000-95007800	Active TSS	Right Atrium	heart
4	chr1:95003000-95008400	Active TSS	Brain Angular Gyrus	brain
5	chr1:95003200-95007800	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr1:95003200-95007800	Active TSS	Fetal Intestine Large	intestine
7	chr1:95003800-95007800	Active TSS	Brain Cingulate Gyrus	brain
8	chr1:95004200-95008800	Active TSS	Ovary	ovary
9	chr1:95004400-95007800	Active TSS	Left Ventricle	heart
10	chr1:95004400-95007800	Active TSS	Right Ventricle	heart
11	chr1:95004400-95007800	Active TSS	NH-A	brain
12	chr1:95004400-95008200	Active TSS	Pancreas	Pancrea
13	chr1:95004600-95007800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:95004800-95007800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:95004800-95007800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:95005400-95007800	Active TSS	HSMMtube	muscle
17	chr1:95005400-95008000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr1:95005400-95008000	Active TSS	Placenta Amnion	Placenta Amnion
19	chr1:95005400-95008000	Active TSS	Stomach Mucosa	stomach
20	chr1:95005400-95008400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr1:95005600-95007800	Active TSS	Fetal Heart	heart
22	chr1:95005600-95008200	Active TSS	NHDF-Ad	bronchial
23	chr1:95005600-95008800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr1:95005800-95008000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:95005800-95008000	Active TSS	Brain Substantia Nigra	brain
26	chr1:95005800-95008200	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr1:95005800-95008600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:95006000-95007800	Active TSS	Rectal Smooth Muscle	rectum
29	chr1:95006200-95007800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:95006200-95007800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:95006200-95007800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:95006200-95007800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:95006200-95007800	Active TSS	Colonic Mucosa	Colon
34	chr1:95006200-95007800	Bivalent/Poised TSS	Fetal Stomach	stomach
35	chr1:95006200-95008000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr1:95006200-95008200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:95006200-95008600	Active TSS	Aorta	Aorta
38	chr1:95006400-95007800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:95006400-95007800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:95006400-95007800	Active TSS	Small Intestine	intestine
41	chr1:95006400-95008000	Active TSS	Colon Smooth Muscle	Colon
42	chr1:95006600-95007800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
43	chr1:95006600-95007800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr1:95006600-95007800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
45	chr1:95006600-95007800	Bivalent/Poised TSS	Fetal Brain Female	brain
46	chr1:95006600-95007800	Active TSS	HepG2	liver
47	chr1:95006600-95007800	Active TSS	HSMM	muscle
48	chr1:95006600-95008000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:95006600-95008000	Active TSS	A549	lung
50	chr1:95006600-95008200	Active TSS	Fetal Intestine Small	intestine

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