Variant report

Variant	rs533125250
Chromosome Location	chr1:221052527-221052528
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	CTCF	chr1:221052460-221052610	AG04449	skin:	n/a	n/a
3	POLR2A	chr1:221052387-221052806	K562	blood:	n/a	n/a
4	POLR2A	chr1:221052170-221053672	HEK293	kidney:	n/a	n/a
5	CTCF	chr1:221052520-221052670	HCM	heart:	n/a	n/a
6	MYC	chr1:221052466-221052632	HUVEC	blood vessel:	n/a	chr1:221052603-221052613
7	MAX	chr1:221052389-221052756	K562	blood:	n/a	chr1:221052464-221052473 chr1:221052603-221052613
8	ZNF143	chr1:221052155-221052746	GM12878	blood:	n/a	n/a
9	MAX	chr1:221052274-221053740	HCT-116	colon:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
10	REST	chr1:221051646-221052821	HL-60	blood:	n/a	chr1:221051972-221051985 chr1:221052190-221052204
11	CTBP2	chr1:221049806-221056533	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:221052333-221053482	ProgFib	skin:	n/a	n/a
13	POLR2A	chr1:221049750-221054006	HL-60	blood:	n/a	n/a
14	TBP	chr1:221052485-221052749	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:221052138-221055250	IMR90	lung:	n/a	n/a
16	MAX	chr1:221052332-221053065	ECC-1	luminal epithelium:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
17	MAX	chr1:221052250-221053062	GM12878	blood:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
18	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
19	POLR2A	chr1:221052498-221052601	A549	lung:	n/a	n/a
20	POLR2A	chr1:221052436-221052757	SK-N-SH	brain:	n/a	n/a
21	ZKSCAN1	chr1:221052524-221052570	Hela-S3	cervix:	n/a	n/a
22	MAX	chr1:221052017-221053811	A549	lung:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
23	E2F6	chr1:221052250-221053818	K562	blood:	n/a	chr1:221052962-221052971 chr1:221052900-221052909 chr1:221052955-221052965 chr1:221053102-221053112 chr1:221052320-221052331
24	MYC	chr1:221051657-221053132	NB4	blood:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221051894-221051909 chr1:221052603-221052613
25	ZNF263	chr1:221052484-221053606	HEK293-T-REx	kidney:	n/a	chr1:221053024-221053033
26	POLR2A	chr1:221052435-221052820	Hela-S3	cervix:	n/a	n/a
27	HEY1	chr1:221052414-221052708	K562	blood:	n/a	n/a
28	SUZ12	chr1:221048843-221052557	NT2-D1	testis:	n/a	n/a
29	SP1	chr1:221052472-221052871	H1-hESC	embryonic stem cell:	n/a	chr1:221052658-221052679 chr1:221052608-221052618 chr1:221052684-221052705
30	POLR2A	chr1:221050359-221052771	H1-neurons	neurons:	n/a	n/a
31	RCOR1	chr1:221052306-221052643	GM12878	blood:	n/a	n/a
32	RCOR1	chr1:221052509-221053107	Hela-S3	cervix:	n/a	n/a
33	MAX	chr1:221052348-221053239	SK-N-SH	brain:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
34	POLR2A	chr1:221052521-221052584	GM12878	blood:	n/a	n/a
35	MAZ	chr1:221051935-221057120	IMR90	lung:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
36	CTCF	chr1:221052480-221052630	NHDF-neo	bronchial:	n/a	n/a
37	RFX5	chr1:221052523-221052852	GM12878	blood:	n/a	n/a
38	CREB1	chr1:221052417-221053084	A549	lung:	n/a	n/a
39	CTCF	chr1:221052460-221052610	AG10803	skin:	n/a	n/a
40	BACH1	chr1:221052129-221052743	H1-hESC	embryonic stem cell:	n/a	n/a
41	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
42	POLR2A	chr1:221052339-221052943	SK-N-SH	brain:	n/a	n/a
43	MAX	chr1:221052304-221052761	ECC-1	luminal epithelium:	n/a	chr1:221052464-221052473 chr1:221052603-221052613
44	E2F6	chr1:221052367-221052742	K562	blood:	n/a	n/a
45	MYC	chr1:221052504-221053056	MCF10A-Er-Src	breast:	n/a	chr1:221052899-221052909 chr1:221052603-221052613
46	SP1	chr1:221052333-221052951	A549	lung:	n/a	chr1:221052658-221052679 chr1:221052399-221052409 chr1:221052608-221052618 chr1:221052684-221052705
47	POLR2A	chr1:221052435-221052611	A549	lung:	n/a	n/a
48	POLR2A	chr1:221051778-221053514	NB4	blood:	n/a	n/a
49	SMC3	chr1:221052426-221052538	GM12878	blood:	n/a	n/a
50	POLR2A	chr1:221052359-221053613	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
HLX	TF binding region

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	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

No data

Chromatin state (count:120 , 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	chr1:221049400-221052600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:221049600-221052600	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr1:221049600-221052800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:221049600-221052800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr1:221049600-221055600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:221049800-221052600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
8	chr1:221049800-221055400	Active TSS	Right Atrium	heart
9	chr1:221049800-221055800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:221050000-221055400	Active TSS	Left Ventricle	heart
11	chr1:221050200-221053800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr1:221050400-221053600	Bivalent Enhancer	Fetal Brain Male	brain
13	chr1:221050400-221055200	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr1:221050600-221052600	Enhancers	Spleen	Spleen
15	chr1:221050800-221052600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr1:221051200-221052600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
17	chr1:221051200-221053800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr1:221051200-221054400	Active TSS	Lung	lung
19	chr1:221051200-221055000	Active TSS	Rectal Smooth Muscle	rectum
20	chr1:221051200-221055600	Active TSS	Right Ventricle	heart
21	chr1:221051400-221052800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
22	chr1:221051400-221054000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
23	chr1:221051400-221056000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
24	chr1:221051600-221052600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr1:221051600-221052800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
26	chr1:221051600-221054400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:221051600-221054600	Active TSS	Colon Smooth Muscle	Colon
28	chr1:221051800-221052600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
29	chr1:221051800-221052600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:221051800-221052600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr1:221051800-221052600	Flanking Bivalent TSS/Enh	Placenta	Placenta
32	chr1:221051800-221052600	Flanking Active TSS	Pancreas	Pancrea
33	chr1:221051800-221052600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr1:221051800-221052600	Flanking Active TSS	HUVEC	blood vessel
35	chr1:221051800-221052800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:221051800-221052800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
37	chr1:221051800-221052800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
38	chr1:221051800-221053200	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
39	chr1:221051800-221053400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
40	chr1:221051800-221053600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
41	chr1:221051800-221053800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
42	chr1:221051800-221054000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr1:221051800-221054200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:221051800-221054200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:221051800-221054200	Bivalent/Poised TSS	NHEK	skin
46	chr1:221051800-221055200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:221051800-221055800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:221052000-221052600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:221052000-221052600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr1:221052000-221052600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain

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