Variant report

Variant	rs565316215
Chromosome Location	chr1:95006459-95006460
allele	C/T
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	chr1:95005611-95008251	Hela-S3	cervix:	n/a	n/a
2	MAZ	chr1:95006424-95007855	Hela-S3	cervix:	n/a	chr1:95006717-95006724 chr1:95006812-95006821
3	MAX	chr1:95006361-95006820	HepG2	liver:	n/a	chr1:95006717-95006724
4	ARID3A	chr1:95006245-95006874	HepG2	liver:	n/a	n/a
5	GTF2F1	chr1:95006125-95006907	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:95006048-95007983	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr1:94991604-95010849	IMR90	lung:	n/a	n/a
8	HA-E2F1	chr1:95006261-95007853	MCF-7	breast:	n/a	chr1:95007476-95007485
9	POLR2A	chr1:95006117-95008373	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:95000323-95009541	MCF10A-Er-Src	breast:	n/a	n/a
11	SMARCB1	chr1:95006190-95008144	Hela-S3	cervix:	n/a	chr1:95007517-95007526 chr1:95007518-95007527
12	POLR2A	chr1:95003836-95008278	U87	brain:	n/a	n/a
13	RCOR1	chr1:95006244-95008216	Hela-S3	cervix:	n/a	n/a
14	ELK1	chr1:95006280-95006834	Hela-S3	cervix:	n/a	n/a
15	CHD1	chr1:94994939-95011321	IMR90	lung:	n/a	n/a
16	MAFK	chr1:95005921-95006963	Hela-S3	cervix:	n/a	chr1:95006888-95006903 chr1:95006721-95006738
17	USF2	chr1:95005863-95006897	Hela-S3	cervix:	n/a	n/a
18	MAX	chr1:95006434-95008039	A549	lung:	n/a	chr1:95006717-95006724 chr1:95006812-95006821
19	POLR2A	chr1:95004799-95008370	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:95006041-95007962	U87	brain:	n/a	n/a
21	POLR2A	chr1:95004630-95008333	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr1:95006088-95008209	Hela-S3	cervix:	n/a	n/a
23	TCF7L2	chr1:95006129-95006571	Hela-S3	cervix:	n/a	n/a
24	MAX	chr1:95006221-95008190	NB4	blood:	n/a	chr1:95006717-95006724 chr1:95006812-95006821
25	POLR2A	chr1:95006396-95006698	HCT-116	colon:	n/a	n/a
26	MAX	chr1:95005063-95008387	Hela-S3	cervix:	n/a	chr1:95006717-95006724 chr1:95006812-95006821
27	RFX5	chr1:95005068-95007782	Hela-S3	cervix:	n/a	n/a
28	MAX	chr1:95006411-95008154	HepG2	liver:	n/a	chr1:95006717-95006724 chr1:95006812-95006821
29	POLR2A	chr1:94999692-95008368	ProgFib	skin:	n/a	n/a
30	EP300	chr1:95006451-95006775	Hela-S3	cervix:	n/a	n/a
31	RAD21	chr1:95006121-95006785	Hela-S3	cervix:	n/a	n/a
32	SIN3A	chr1:95006450-95008258	H1-hESC	embryonic stem cell:	n/a	n/a
33	TBP	chr1:95005043-95006937	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr1:95006284-95008104	HepG2	liver:	n/a	n/a
35	SMC3	chr1:95006207-95008324	Hela-S3	cervix:	n/a	n/a
36	MAZ	chr1:95004703-95008397	IMR90	lung:	n/a	chr1:95006717-95006724 chr1:95006812-95006821
37	MYC	chr1:95006257-95007728	NB4	blood:	n/a	chr1:95006717-95006724 chr1:95006812-95006821
38	CEBPB	chr1:95006439-95008044	Hela-S3	cervix:	n/a	n/a
39	ZKSCAN1	chr1:95006323-95008075	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr1:95006190-95007792	HCT-116	colon:	n/a	n/a
41	MYC	chr1:95006455-95006942	MCF10A-Er-Src	breast:	n/a	chr1:95006717-95006724 chr1:95006812-95006821
42	RAD21	chr1:95006194-95008967	IMR90	lung:	n/a	chr1:95007044-95007058

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:95006451-95006501	HAEpiC	amniotic membrane:	n/a
2	chr1:95006451-95006501	IMR90	lung:	fetal
3	chr1:95006451-95006501	HRPEpiC	eye:	n/a
4	chr1:95006451-95006501	H1-hESC	embryonic stem cell:	embryo
5	chr1:95006451-95006501	ECC-1	luminal epithelium:	n/a
6	chr1:95006451-95006501	CMK	blood:	n/a
7	chr1:95006451-95006501	AG04449	skin:	fetal
8	chr1:95006451-95006501	HL-60	blood:	n/a
9	chr1:95006451-95006501	SK-N-MC	brain:	n/a
10	chr1:95006451-95006501	GM19239	blood:	n/a
11	chr1:95006451-95006501	AG09319	gingival:	n/a
12	chr1:95006451-95006501	NH-A	brain:	n/a
13	chr1:95006451-95006501	SK-N-SH	brain:	n/a
14	chr1:95006451-95006501	HRE	kidney:	n/a
15	chr1:95006451-95006501	BJ	skin:	n/a
16	chr1:95006451-95006501	MCF10A-Er-Src	breast:	n/a
17	chr1:95006451-95006501	HMEC	breast:	n/a
18	chr1:95006451-95006501	PANC-1	pancreas:	n/a
19	chr1:95006451-95006501	AG10803	skin:	n/a
20	chr1:95006451-95006501	PFSK-1	brain:	n/a
21	chr1:95006451-95006501	LNCaP	prostate:	n/a
22	chr1:95006451-95006501	AG09309	skin:	n/a
23	chr1:95006451-95006501	Hela-S3	cervix:	n/a
24	chr1:95006451-95006501	HCF	heart:	n/a
25	chr1:95006451-95006501	SK-N-SH_RA	brain:	n/a
26	chr1:95006451-95006501	HUVEC	blood vessel:	n/a
27	chr1:95006451-95006501	GM12878	blood:	n/a
28	chr1:95006451-95006501	HEEpiC	esophagus:	n/a
29	chr1:95006451-95006501	MCF-7	breast:	n/a
30	chr1:95006451-95006501	HCT-116	colon:	n/a
31	chr1:95006451-95006501	NB4	blood:	n/a
32	chr1:95006451-95006501	HEK293	kidney:	embryo
33	chr1:95006451-95006501	HepG2	liver:	n/a
34	chr1:95006451-95006501	HCPEpiC	choroid plexus:	n/a
35	chr1:95006451-95006501	HNPCEpiC	eye:	n/a
36	chr1:95006451-95006501	NHBE	bronchial:	n/a
37	chr1:95006451-95006501	Hepatocyte	liver:	n/a
38	chr1:95006451-95006501	HCM	heart:	n/a
39	chr1:95006451-95006501	Caco-2	colon:	n/a
40	chr1:95006451-95006501	NHDF-neo	bronchial:	n/a
41	chr1:95006451-95006501	ovcar-3	ovarian:	n/a
42	chr1:95006451-95006501	A549	lung:	n/a
43	chr1:95006451-95006501	T-47D	breast:	n/a
44	chr1:95006451-95006501	BE2_C	brain:	n/a
45	chr1:95006451-95006501	GM06990	blood:	n/a
46	chr1:95006451-95006501	AoSMC	blood vessel:	n/a
47	chr1:95006451-95006501	GM12892	blood:	n/a
48	chr1:95006451-95006501	Jurkat	blood:	n/a
49	chr1:95006451-95006501	PrEC	prostate:	n/a
50	chr1:95006451-95006501	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95001173..95003691-chr1:95006398..95009153,2	MCF-7	breast:
2	chr1:95004121..95007110-chr1:95017554..95021316,3	MCF-7	breast:

Variant related genes	Relation type
F3	TF binding region
F3	CpG island
ENSG00000117525	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95001400-95006600	Transcr. at gene 5' and 3'	HMEC	breast
2	chr1:95001600-95007400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:95001600-95007800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:95001800-95007000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:95001800-95007800	Active TSS	Brain Hippocampus Middle	brain
6	chr1:95002400-95006600	Transcr. at gene 5' and 3'	NHLF	lung
7	chr1:95002600-95006600	Active TSS	Fetal Brain Female	brain
8	chr1:95002800-95006800	Transcr. at gene 5' and 3'	NHEK	skin
9	chr1:95002800-95007200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:95002800-95007600	Active TSS	Brain Anterior Caudate	brain
11	chr1:95003000-95007800	Active TSS	Right Atrium	heart
12	chr1:95003000-95008400	Active TSS	Brain Angular Gyrus	brain
13	chr1:95003200-95007800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr1:95003200-95007800	Active TSS	Fetal Intestine Large	intestine
15	chr1:95003800-95007600	Active TSS	Stomach Smooth Muscle	stomach
16	chr1:95003800-95007800	Active TSS	Brain Cingulate Gyrus	brain
17	chr1:95004000-95006800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:95004200-95006800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr1:95004200-95008800	Active TSS	Ovary	ovary
20	chr1:95004400-95007800	Active TSS	Left Ventricle	heart
21	chr1:95004400-95007800	Active TSS	Right Ventricle	heart
22	chr1:95004400-95007800	Active TSS	NH-A	brain
23	chr1:95004400-95008200	Active TSS	Pancreas	Pancrea
24	chr1:95004600-95007800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:95004800-95006800	Bivalent/Poised TSS	Thymus	Thymus
26	chr1:95004800-95007800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:95004800-95007800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:95005400-95007600	Active TSS	Duodenum Mucosa	Duodenum
29	chr1:95005400-95007800	Active TSS	HSMMtube	muscle
30	chr1:95005400-95008000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr1:95005400-95008000	Active TSS	Placenta Amnion	Placenta Amnion
32	chr1:95005400-95008000	Active TSS	Stomach Mucosa	stomach
33	chr1:95005400-95008400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr1:95005600-95006800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:95005600-95006800	Bivalent/Poised TSS	Fetal Kidney	kidney
36	chr1:95005600-95007800	Active TSS	Fetal Heart	heart
37	chr1:95005600-95008200	Active TSS	NHDF-Ad	bronchial
38	chr1:95005600-95008800	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr1:95005800-95006600	Flanking Active TSS	HepG2	liver
40	chr1:95005800-95007000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:95005800-95008000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr1:95005800-95008000	Active TSS	Brain Substantia Nigra	brain
43	chr1:95005800-95008200	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr1:95005800-95008600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:95006000-95006600	Flanking Active TSS	A549	lung
46	chr1:95006000-95006800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:95006000-95006800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr1:95006000-95007600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:95006000-95007600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
50	chr1:95006000-95007600	Active TSS	Hela-S3	cervix

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