Variant report

Variant	rs570914522
Chromosome Location	chr1:221052739-221052740
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	SIN3AK20	chr1:221052332-221052932	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr1:221052387-221052806	K562	blood:	n/a	n/a
3	POLR2A	chr1:221052170-221053672	HEK293	kidney:	n/a	n/a
4	MAX	chr1:221052389-221052756	K562	blood:	n/a	chr1:221052464-221052473 chr1:221052603-221052613
5	ZNF143	chr1:221052155-221052746	GM12878	blood:	n/a	n/a
6	MAX	chr1:221052274-221053740	HCT-116	colon:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
7	REST	chr1:221051646-221052821	HL-60	blood:	n/a	chr1:221051972-221051985 chr1:221052190-221052204
8	SP1	chr1:221052549-221052832	GM12878	blood:	n/a	chr1:221052658-221052679 chr1:221052608-221052618 chr1:221052684-221052705
9	CTBP2	chr1:221049806-221056533	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr1:221052333-221053482	ProgFib	skin:	n/a	n/a
11	POLR2A	chr1:221049750-221054006	HL-60	blood:	n/a	n/a
12	TBP	chr1:221052485-221052749	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:221052138-221055250	IMR90	lung:	n/a	n/a
14	CTCF	chr1:221052703-221052893	IMR90	lung:	n/a	n/a
15	MAX	chr1:221052332-221053065	ECC-1	luminal epithelium:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
16	MAX	chr1:221052250-221053062	GM12878	blood:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
17	NFYB	chr1:221052463-221052845	K562	blood:	n/a	chr1:221052665-221052680 chr1:221052685-221052695 chr1:221052667-221052682 chr1:221052666-221052680 chr1:221052683-221052698 chr1:221052683-221052698 chr1:221052665-221052680
18	POLR2A	chr1:221052436-221052757	SK-N-SH	brain:	n/a	n/a
19	MAX	chr1:221052017-221053811	A549	lung:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
20	E2F6	chr1:221052250-221053818	K562	blood:	n/a	chr1:221052962-221052971 chr1:221052900-221052909 chr1:221052955-221052965 chr1:221053102-221053112 chr1:221052320-221052331
21	MYC	chr1:221051657-221053132	NB4	blood:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221051894-221051909 chr1:221052603-221052613
22	ZNF263	chr1:221052484-221053606	HEK293-T-REx	kidney:	n/a	chr1:221053024-221053033
23	POLR2A	chr1:221052435-221052820	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr1:221052680-221052830	SK-N-SH_RA	brain:	n/a	n/a
25	SP1	chr1:221052472-221052871	H1-hESC	embryonic stem cell:	n/a	chr1:221052658-221052679 chr1:221052608-221052618 chr1:221052684-221052705
26	POLR2A	chr1:221050359-221052771	H1-neurons	neurons:	n/a	n/a
27	RCOR1	chr1:221052509-221053107	Hela-S3	cervix:	n/a	n/a
28	MAX	chr1:221052348-221053239	SK-N-SH	brain:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
29	TAF1	chr1:221052575-221052827	K562	blood:	n/a	n/a
30	POLR2A	chr1:221052541-221053569	MCF10A-Er-Src	breast:	n/a	n/a
31	MAZ	chr1:221051935-221057120	IMR90	lung:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
32	RFX5	chr1:221052523-221052852	GM12878	blood:	n/a	n/a
33	CHD2	chr1:221052560-221053753	Hela-S3	cervix:	n/a	n/a
34	CREB1	chr1:221052417-221053084	A549	lung:	n/a	n/a
35	BACH1	chr1:221052129-221052743	H1-hESC	embryonic stem cell:	n/a	n/a
36	NFYB	chr1:221052500-221052776	Hela-S3	cervix:	n/a	chr1:221052665-221052680 chr1:221052685-221052695 chr1:221052667-221052682 chr1:221052666-221052680 chr1:221052683-221052698 chr1:221052683-221052698 chr1:221052665-221052680
37	POLR2A	chr1:221052339-221052943	SK-N-SH	brain:	n/a	n/a
38	MAX	chr1:221052304-221052761	ECC-1	luminal epithelium:	n/a	chr1:221052464-221052473 chr1:221052603-221052613
39	E2F6	chr1:221052367-221052742	K562	blood:	n/a	n/a
40	MYC	chr1:221052504-221053056	MCF10A-Er-Src	breast:	n/a	chr1:221052899-221052909 chr1:221052603-221052613
41	SP1	chr1:221052333-221052951	A549	lung:	n/a	chr1:221052658-221052679 chr1:221052399-221052409 chr1:221052608-221052618 chr1:221052684-221052705
42	MAX	chr1:221052622-221052860	H1-hESC	embryonic stem cell:	n/a	n/a
43	ZNF384	chr1:221052674-221053002	K562	blood:	n/a	n/a
44	POLR2A	chr1:221051778-221053514	NB4	blood:	n/a	n/a
45	CHD1	chr1:221052680-221053229	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr1:221052359-221053613	MCF10A-Er-Src	breast:	n/a	n/a
47	MXI1	chr1:221051833-221056348	IMR90	lung:	n/a	chr1:221051897-221051906
48	HCFC1	chr1:221052268-221053758	Hela-S3	cervix:	n/a	n/a
49	MXI1	chr1:221052291-221052757	GM12878	blood:	n/a	n/a
50	IRF1	chr1:221052482-221052767	K562	blood:	n/a	chr1:221052607-221052621

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:221052718-221052768	LNCaP	prostate:	n/a
2	chr1:221052705-221052755	NT2-D1	testis:	n/a
3	chr1:221052729-221052779	AG09309	skin:	n/a
4	chr1:221052718-221052768	IMR90	lung:	fetal
5	chr1:221052718-221052768	BJ	skin:	n/a
6	chr1:221052718-221052768	HEK293	kidney:	embryo
7	chr1:221052705-221052755	HEEpiC	esophagus:	n/a
8	chr1:221052705-221052755	AG10803	skin:	n/a
9	chr1:221052705-221052755	K562	blood:	n/a
10	chr1:221052729-221052779	NB4	blood:	n/a
11	chr1:221052705-221052755	AG09309	skin:	n/a
12	chr1:221052718-221052768	HRCEpiC	kidney:	n/a
13	chr1:221052729-221052779	MCF-7	breast:	n/a
14	chr1:221052718-221052768	NT2-D1	testis:	n/a
15	chr1:221052718-221052768	GM12878	blood:	n/a
16	chr1:221052705-221052755	GM12878	blood:	n/a
17	chr1:221052718-221052768	Hepatocyte	liver:	n/a
18	chr1:221052705-221052755	HEK293	kidney:	embryo
19	chr1:221052705-221052755	GM06990	blood:	n/a
20	chr1:221052705-221052755	PANC-1	pancreas:	n/a
21	chr1:221052705-221052755	Jurkat	blood:	n/a
22	chr1:221052729-221052779	PANC-1	pancreas:	n/a
23	chr1:221052718-221052768	Jurkat	blood:	n/a
24	chr1:221052729-221052779	HEK293	kidney:	embryo
25	chr1:221052729-221052779	NT2-D1	testis:	n/a
26	chr1:221052729-221052779	SAEC	small airway:	n/a
27	chr1:221052705-221052755	GM19239	blood:	n/a
28	chr1:221052718-221052768	HIPEpiC	eye:	n/a
29	chr1:221052705-221052755	BE2_C	brain:	n/a
30	chr1:221052705-221052755	HRPEpiC	eye:	n/a
31	chr1:221052718-221052768	HUVEC	blood vessel:	n/a
32	chr1:221052729-221052779	Hela-S3	cervix:	n/a
33	chr1:221052718-221052768	CMK	blood:	n/a
34	chr1:221052729-221052779	NH-A	brain:	n/a
35	chr1:221052718-221052768	Caco-2	colon:	n/a
36	chr1:221052718-221052768	HCPEpiC	choroid plexus:	n/a
37	chr1:221052705-221052755	HMEC	breast:	n/a
38	chr1:221052729-221052779	Caco-2	colon:	n/a
39	chr1:221052718-221052768	PrEC	prostate:	n/a
40	chr1:221052705-221052755	AG09319	gingival:	n/a
41	chr1:221052705-221052755	PFSK-1	brain:	n/a
42	chr1:221052718-221052768	HPAEpiC	pulmonary alveolar:	n/a
43	chr1:221052718-221052768	PFSK-1	brain:	n/a
44	chr1:221052729-221052779	HCF	heart:	n/a
45	chr1:221052705-221052755	HCT-116	colon:	n/a
46	chr1:221052718-221052768	HRE	kidney:	n/a
47	chr1:221052718-221052768	HCF	heart:	n/a
48	chr1:221052729-221052779	A549	lung:	n/a
49	chr1:221052718-221052768	AG04450	lung:	fetal
50	chr1:221052718-221052768	GM12892	blood:	n/a

Variant related genes	Relation type
HLX	TF binding region
HLX	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv1798350	chr1:221020278-221069740	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3393770	chr1:221051854-221054702	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv819685	chr1:221052623-221053772	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221049000-221053800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:221049600-221052800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:221049600-221052800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr1:221049600-221055600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:221049800-221055400	Active TSS	Right Atrium	heart
6	chr1:221049800-221055800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:221050000-221055400	Active TSS	Left Ventricle	heart
8	chr1:221050200-221053800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr1:221050400-221053600	Bivalent Enhancer	Fetal Brain Male	brain
10	chr1:221050400-221055200	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr1:221051200-221053800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr1:221051200-221054400	Active TSS	Lung	lung
13	chr1:221051200-221055000	Active TSS	Rectal Smooth Muscle	rectum
14	chr1:221051200-221055600	Active TSS	Right Ventricle	heart
15	chr1:221051400-221052800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
16	chr1:221051400-221054000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
17	chr1:221051400-221056000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
18	chr1:221051600-221052800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
19	chr1:221051600-221054400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:221051600-221054600	Active TSS	Colon Smooth Muscle	Colon
21	chr1:221051800-221052800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:221051800-221052800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
23	chr1:221051800-221052800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
24	chr1:221051800-221053200	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
25	chr1:221051800-221053400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
26	chr1:221051800-221053600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
27	chr1:221051800-221053800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
28	chr1:221051800-221054000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr1:221051800-221054200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:221051800-221054200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:221051800-221054200	Bivalent/Poised TSS	NHEK	skin
32	chr1:221051800-221055200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:221051800-221055800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:221052000-221052800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
35	chr1:221052000-221053000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
36	chr1:221052000-221053800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr1:221052000-221053800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
38	chr1:221052000-221054000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:221052000-221054000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:221052000-221054000	Active TSS	A549	lung
41	chr1:221052000-221054200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
42	chr1:221052000-221054800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr1:221052000-221054800	Bivalent/Poised TSS	Thymus	Thymus
44	chr1:221052000-221054800	Active TSS	HSMM	muscle
45	chr1:221052000-221054800	Active TSS	HSMMtube	muscle
46	chr1:221052000-221055000	Bivalent/Poised TSS	Fetal Lung	lung
47	chr1:221052000-221055000	Active TSS	Ovary	ovary
48	chr1:221052000-221055000	Active TSS	NHDF-Ad	bronchial
49	chr1:221052000-221055400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:221052000-221055600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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