Variant report

Variant	rs559170923
Chromosome Location	chr1:221053138-221053139
allele	A/C
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	chr1:221052170-221053672	HEK293	kidney:	n/a	n/a
2	CCNT2	chr1:221052822-221053769	K562	blood:	n/a	n/a
3	YY1	chr1:221053122-221053698	K562	blood:	n/a	chr1:221053171-221053182
4	CTCF	chr1:221053000-221053150	NHDF-neo	bronchial:	n/a	n/a
5	MAX	chr1:221052274-221053740	HCT-116	colon:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
6	CTBP2	chr1:221049806-221056533	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:221052333-221053482	ProgFib	skin:	n/a	n/a
8	ZBTB7A	chr1:221052949-221053441	ECC-1	luminal epithelium:	n/a	chr1:221053142-221053153
9	POLR2A	chr1:221049750-221054006	HL-60	blood:	n/a	n/a
10	POLR2A	chr1:221052817-221053611	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr1:221052138-221055250	IMR90	lung:	n/a	n/a
12	CTCF	chr1:221053080-221053230	GM12874	blood:	n/a	n/a
13	GABPA	chr1:221052883-221053194	H1-hESC	embryonic stem cell:	n/a	chr1:221052955-221052964 chr1:221053070-221053079 chr1:221052900-221052909 chr1:221053137-221053146
14	MAX	chr1:221052017-221053811	A549	lung:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
15	E2F6	chr1:221052250-221053818	K562	blood:	n/a	chr1:221052962-221052971 chr1:221052900-221052909 chr1:221052955-221052965 chr1:221053102-221053112 chr1:221052320-221052331
16	ZNF263	chr1:221052484-221053606	HEK293-T-REx	kidney:	n/a	chr1:221053024-221053033
17	MAX	chr1:221052348-221053239	SK-N-SH	brain:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
18	UBTF	chr1:221052846-221053598	K562	blood:	n/a	n/a
19	POLR2A	chr1:221052541-221053569	MCF10A-Er-Src	breast:	n/a	n/a
20	EGR1	chr1:221052773-221053213	H1-hESC	embryonic stem cell:	n/a	chr1:221052904-221052914 chr1:221053142-221053155 chr1:221052900-221052910
21	MAZ	chr1:221051935-221057120	IMR90	lung:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
22	MAX	chr1:221052800-221053196	ECC-1	luminal epithelium:	n/a	chr1:221052899-221052909
23	CTCF	chr1:221053040-221053190	GM12865	blood:	n/a	n/a
24	CHD2	chr1:221052560-221053753	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr1:221053020-221053170	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr1:221051778-221053514	NB4	blood:	n/a	n/a
27	ZBTB7A	chr1:221052795-221053469	K562	blood:	n/a	chr1:221053142-221053153
28	CHD1	chr1:221052680-221053229	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr1:221052359-221053613	MCF10A-Er-Src	breast:	n/a	n/a
30	MXI1	chr1:221051833-221056348	IMR90	lung:	n/a	chr1:221051897-221051906
31	POLR2A	chr1:221052832-221053713	K562	blood:	n/a	n/a
32	HCFC1	chr1:221052268-221053758	Hela-S3	cervix:	n/a	n/a
33	MAX	chr1:221052216-221053693	K562	blood:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
34	SMARCC1	chr1:221053064-221053843	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr1:221052825-221055075	H1-neurons	neurons:	n/a	n/a
36	MXI1	chr1:221053100-221053159	Hela-S3	cervix:	n/a	n/a
37	UBTF	chr1:221052391-221053770	K562	blood:	n/a	n/a
38	SUZ12	chr1:221052903-221055995	NT2-D1	testis:	n/a	n/a
39	POLR2A	chr1:221047152-221053823	HUVEC	blood vessel:	n/a	n/a
40	MAX	chr1:221052329-221053624	SK-N-SH	brain:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
41	ZBTB7A	chr1:221052806-221053719	K562	blood:	n/a	chr1:221053142-221053153
42	TCF7L2	chr1:221052449-221053653	HCT-116	colon:	n/a	n/a
43	MAZ	chr1:221052552-221053709	Hela-S3	cervix:	n/a	chr1:221052899-221052909 chr1:221052603-221052613
44	HMGN3	chr1:221052435-221053825	K562	blood:	n/a	n/a
45	ZBTB7A	chr1:221052450-221053341	ECC-1	luminal epithelium:	n/a	chr1:221053142-221053153
46	MYC	chr1:221052272-221053152	A549	lung:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
47	MYC	chr1:221052379-221053637	K562	blood:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
48	MAX	chr1:221052541-221053767	Hela-S3	cervix:	n/a	chr1:221052899-221052909 chr1:221052603-221052613
49	POLR2A	chr1:221052165-221053700	U87	brain:	n/a	n/a
50	CTCF	chr1:221053120-221053270	HFF	foreskin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:221053128-221053178	SK-N-SH	brain:	n/a
2	chr1:221053128-221053178	Jurkat	blood:	n/a
3	chr1:221053128-221053178	ProgFib	skin:	n/a
4	chr1:221053128-221053178	NB4	blood:	n/a
5	chr1:221053128-221053178	PFSK-1	brain:	n/a
6	chr1:221053128-221053178	GM06990	blood:	n/a
7	chr1:221053128-221053178	GM12891	blood:	n/a
8	chr1:221053128-221053178	HMEC	breast:	n/a
9	chr1:221053128-221053178	NHDF-neo	bronchial:	n/a
10	chr1:221053128-221053178	BE2_C	brain:	n/a
11	chr1:221053128-221053178	AG09309	skin:	n/a
12	chr1:221053128-221053178	K562	blood:	n/a
13	chr1:221053128-221053178	HIPEpiC	eye:	n/a
14	chr1:221053128-221053178	HL-60	blood:	n/a
15	chr1:221053128-221053178	HCF	heart:	n/a
16	chr1:221053128-221053178	HepG2	liver:	n/a
17	chr1:221053128-221053178	HRCEpiC	kidney:	n/a
18	chr1:221053128-221053178	GM12892	blood:	n/a
19	chr1:221053128-221053178	H1-hESC	embryonic stem cell:	embryo
20	chr1:221053128-221053178	PANC-1	pancreas:	n/a
21	chr1:221053128-221053178	HCM	heart:	n/a
22	chr1:221053128-221053178	NT2-D1	testis:	n/a
23	chr1:221053128-221053178	A549	lung:	n/a
24	chr1:221053128-221053178	AG09319	gingival:	n/a
25	chr1:221053128-221053178	Hela-S3	cervix:	n/a
26	chr1:221053128-221053178	ECC-1	luminal epithelium:	n/a
27	chr1:221053128-221053178	AG10803	skin:	n/a
28	chr1:221053128-221053178	HEEpiC	esophagus:	n/a
29	chr1:221053128-221053178	MCF-7	breast:	n/a
30	chr1:221053128-221053178	HRPEpiC	eye:	n/a
31	chr1:221053128-221053178	HRE	kidney:	n/a
32	chr1:221053128-221053178	HUVEC	blood vessel:	n/a
33	chr1:221053128-221053178	T-47D	breast:	n/a
34	chr1:221053128-221053178	BJ	skin:	n/a
35	chr1:221053128-221053178	CMK	blood:	n/a
36	chr1:221053128-221053178	HCPEpiC	choroid plexus:	n/a
37	chr1:221053128-221053178	LNCaP	prostate:	n/a
38	chr1:221053128-221053178	MCF10A-Er-Src	breast:	n/a
39	chr1:221053128-221053178	U87	brain:	n/a
40	chr1:221053128-221053178	AG04450	lung:	fetal
41	chr1:221053128-221053178	ovcar-3	ovarian:	n/a
42	chr1:221053128-221053178	PrEC	prostate:	n/a
43	chr1:221053128-221053178	HCT-116	colon:	n/a
44	chr1:221053128-221053178	GM19239	blood:	n/a
45	chr1:221053128-221053178	NH-A	brain:	n/a
46	chr1:221053128-221053178	NHBE	bronchial:	n/a
47	chr1:221053128-221053178	AG04449	skin:	fetal
48	chr1:221053128-221053178	SAEC	small airway:	n/a
49	chr1:221053128-221053178	HAEpiC	amniotic membrane:	n/a
50	chr1:221053128-221053178	RPTEC	kidney:	n/a

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
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: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	chr1:221052000-221053800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr1:221052000-221053800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
29	chr1:221052000-221054000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:221052000-221054000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:221052000-221054000	Active TSS	A549	lung
32	chr1:221052000-221054200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
33	chr1:221052000-221054800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr1:221052000-221054800	Bivalent/Poised TSS	Thymus	Thymus
35	chr1:221052000-221054800	Active TSS	HSMM	muscle
36	chr1:221052000-221054800	Active TSS	HSMMtube	muscle
37	chr1:221052000-221055000	Bivalent/Poised TSS	Fetal Lung	lung
38	chr1:221052000-221055000	Active TSS	Ovary	ovary
39	chr1:221052000-221055000	Active TSS	NHDF-Ad	bronchial
40	chr1:221052000-221055400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:221052000-221055600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:221052000-221055800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
43	chr1:221052000-221055800	Active TSS	Psoas Muscle	Psoas
44	chr1:221052000-221058000	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr1:221052200-221053200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr1:221052200-221053600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:221052200-221053600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:221052200-221053600	Bivalent/Poised TSS	HepG2	liver
49	chr1:221052200-221053800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr1:221052200-221053800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin

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