Variant report

Variant	rs572671638
Chromosome Location	chr1:221052851-221052852
allele	G/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	chr1:221052170-221053672	HEK293	kidney:	n/a	n/a
3	CCNT2	chr1:221052822-221053769	K562	blood:	n/a	n/a
4	MAX	chr1:221052274-221053740	HCT-116	colon:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
5	CTBP2	chr1:221049806-221056533	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:221052333-221053482	ProgFib	skin:	n/a	n/a
7	POLR2A	chr1:221049750-221054006	HL-60	blood:	n/a	n/a
8	POLR2A	chr1:221052817-221053611	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:221052138-221055250	IMR90	lung:	n/a	n/a
10	CTCF	chr1:221052703-221052893	IMR90	lung:	n/a	n/a
11	MAX	chr1:221052332-221053065	ECC-1	luminal epithelium:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
12	MAX	chr1:221052250-221053062	GM12878	blood:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
13	MAX	chr1:221052017-221053811	A549	lung:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
14	E2F6	chr1:221052250-221053818	K562	blood:	n/a	chr1:221052962-221052971 chr1:221052900-221052909 chr1:221052955-221052965 chr1:221053102-221053112 chr1:221052320-221052331
15	MYC	chr1:221051657-221053132	NB4	blood:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221051894-221051909 chr1:221052603-221052613
16	ZNF263	chr1:221052484-221053606	HEK293-T-REx	kidney:	n/a	chr1:221053024-221053033
17	SP1	chr1:221052472-221052871	H1-hESC	embryonic stem cell:	n/a	chr1:221052658-221052679 chr1:221052608-221052618 chr1:221052684-221052705
18	RCOR1	chr1:221052509-221053107	Hela-S3	cervix:	n/a	n/a
19	MAX	chr1:221052348-221053239	SK-N-SH	brain:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
20	UBTF	chr1:221052846-221053598	K562	blood:	n/a	n/a
21	POLR2A	chr1:221052541-221053569	MCF10A-Er-Src	breast:	n/a	n/a
22	EGR1	chr1:221052773-221053213	H1-hESC	embryonic stem cell:	n/a	chr1:221052904-221052914 chr1:221053142-221053155 chr1:221052900-221052910
23	MAZ	chr1:221051935-221057120	IMR90	lung:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
24	MAX	chr1:221052800-221053196	ECC-1	luminal epithelium:	n/a	chr1:221052899-221052909
25	RFX5	chr1:221052523-221052852	GM12878	blood:	n/a	n/a
26	CHD2	chr1:221052560-221053753	Hela-S3	cervix:	n/a	n/a
27	CREB1	chr1:221052417-221053084	A549	lung:	n/a	n/a
28	POLR2A	chr1:221052339-221052943	SK-N-SH	brain:	n/a	n/a
29	MYC	chr1:221052504-221053056	MCF10A-Er-Src	breast:	n/a	chr1:221052899-221052909 chr1:221052603-221052613
30	SP1	chr1:221052333-221052951	A549	lung:	n/a	chr1:221052658-221052679 chr1:221052399-221052409 chr1:221052608-221052618 chr1:221052684-221052705
31	MAX	chr1:221052622-221052860	H1-hESC	embryonic stem cell:	n/a	n/a
32	ZNF384	chr1:221052674-221053002	K562	blood:	n/a	n/a
33	POLR2A	chr1:221051778-221053514	NB4	blood:	n/a	n/a
34	ZBTB7A	chr1:221052795-221053469	K562	blood:	n/a	chr1:221053142-221053153
35	CHD1	chr1:221052680-221053229	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr1:221052359-221053613	MCF10A-Er-Src	breast:	n/a	n/a
37	MXI1	chr1:221051833-221056348	IMR90	lung:	n/a	chr1:221051897-221051906
38	POLR2A	chr1:221052832-221053713	K562	blood:	n/a	n/a
39	HCFC1	chr1:221052268-221053758	Hela-S3	cervix:	n/a	n/a
40	MAX	chr1:221052794-221053048	K562	blood:	n/a	chr1:221052899-221052909
41	MAX	chr1:221052216-221053693	K562	blood:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
42	NANOG	chr1:221052836-221053080	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr1:221052825-221055075	H1-neurons	neurons:	n/a	n/a
44	UBTF	chr1:221052391-221053770	K562	blood:	n/a	n/a
45	MAX	chr1:221052423-221053103	K562	blood:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
46	RCOR1	chr1:221052655-221053077	K562	blood:	n/a	n/a
47	POLR2A	chr1:221052017-221052991	PFSK-1	brain:	n/a	n/a
48	POLR2A	chr1:221047152-221053823	HUVEC	blood vessel:	n/a	n/a
49	MYC	chr1:221052317-221053127	K562	blood:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
50	MAX	chr1:221052329-221053624	SK-N-SH	brain:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221052748..221053427-chr3:5024866..5025606,2	Hela-S3	cervix:

Variant related genes	Relation type
HLX	TF binding region

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:122 , 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	chr1:221049600-221055600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:221049800-221055400	Active TSS	Right Atrium	heart
4	chr1:221049800-221055800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:221050000-221055400	Active TSS	Left Ventricle	heart
6	chr1:221050200-221053800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr1:221050400-221053600	Bivalent Enhancer	Fetal Brain Male	brain
8	chr1:221050400-221055200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr1:221051200-221053800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr1:221051200-221054400	Active TSS	Lung	lung
11	chr1:221051200-221055000	Active TSS	Rectal Smooth Muscle	rectum
12	chr1:221051200-221055600	Active TSS	Right Ventricle	heart
13	chr1:221051400-221054000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
14	chr1:221051400-221056000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
15	chr1:221051600-221054400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:221051600-221054600	Active TSS	Colon Smooth Muscle	Colon
17	chr1:221051800-221053200	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
18	chr1:221051800-221053400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
19	chr1:221051800-221053600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
20	chr1:221051800-221053800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
21	chr1:221051800-221054000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:221051800-221054200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:221051800-221054200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:221051800-221054200	Bivalent/Poised TSS	NHEK	skin
25	chr1:221051800-221055200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:221051800-221055800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:221052000-221053000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
28	chr1:221052000-221053800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr1:221052000-221053800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
30	chr1:221052000-221054000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:221052000-221054000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:221052000-221054000	Active TSS	A549	lung
33	chr1:221052000-221054200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
34	chr1:221052000-221054800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr1:221052000-221054800	Bivalent/Poised TSS	Thymus	Thymus
36	chr1:221052000-221054800	Active TSS	HSMM	muscle
37	chr1:221052000-221054800	Active TSS	HSMMtube	muscle
38	chr1:221052000-221055000	Bivalent/Poised TSS	Fetal Lung	lung
39	chr1:221052000-221055000	Active TSS	Ovary	ovary
40	chr1:221052000-221055000	Active TSS	NHDF-Ad	bronchial
41	chr1:221052000-221055400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:221052000-221055600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:221052000-221055800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
44	chr1:221052000-221055800	Active TSS	Psoas Muscle	Psoas
45	chr1:221052000-221058000	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr1:221052200-221053000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
47	chr1:221052200-221053200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr1:221052200-221053600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:221052200-221053600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:221052200-221053600	Bivalent/Poised TSS	HepG2	liver

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