Variant report

Variant	rs552004137
Chromosome Location	chr1:175162534-175162535
allele	A/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	MXI1	chr1:175162461-175162765	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTBP2	chr1:175161323-175163077	H1-hESC	embryonic stem cell:	n/a	n/a
3	RCOR1	chr1:175160845-175162680	K562	blood:	n/a	n/a
4	TBP	chr1:175160991-175162574	H1-hESC	embryonic stem cell:	n/a	n/a
5	SMARCC1	chr1:175161173-175163079	Hela-S3	cervix:	n/a	n/a
6	IRF1	chr1:175160797-175162815	K562	blood:	n/a	chr1:175161058-175161071 chr1:175161058-175161072 chr1:175161057-175161071 chr1:175162259-175162273 chr1:175161053-175161067 chr1:175161057-175161077 chr1:175161059-175161073 chr1:175161338-175161351 chr1:175161051-175161071 chr1:175161058-175161071 chr1:175161057-175161070 chr1:175161053-175161070 chr1:175161055-175161069 chr1:175161059-175161069
7	MAX	chr1:175160954-175162593	K562	blood:	n/a	n/a
8	ZNF263	chr1:175160625-175163127	HEK293-T-REx	kidney:	n/a	chr1:175160916-175160925
9	CTCF	chr1:175162400-175162550	NHDF-neo	bronchial:	n/a	n/a
10	ZKSCAN1	chr1:175161486-175162540	Hela-S3	cervix:	n/a	n/a
11	ELF1	chr1:175161957-175162548	K562	blood:	n/a	chr1:175162263-175162275
12	POLR2A	chr1:175160872-175162810	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT1	chr1:175162036-175162540	GM12878	blood:	n/a	chr1:175162373-175162382 chr1:175162441-175162452 chr1:175162443-175162452 chr1:175162442-175162451 chr1:175162372-175162381 chr1:175162409-175162420 chr1:175162259-175162271
14	STAT1	chr1:175161083-175163061	Hela-S3	cervix:	n/a	chr1:175162373-175162382 chr1:175162441-175162452 chr1:175162443-175162452 chr1:175162442-175162451 chr1:175162372-175162381 chr1:175162409-175162420 chr1:175162259-175162271
15	POLR2A	chr1:175161364-175162580	K562	blood:	n/a	n/a
16	POLR2A	chr1:175160620-175163581	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F6	chr1:175161965-175162951	H1-hESC	embryonic stem cell:	n/a	chr1:175162263-175162272 chr1:175162260-175162272 chr1:175162225-175162236 chr1:175162238-175162249
18	EGR1	chr1:175161720-175162558	HCT-116	colon:	n/a	chr1:175161976-175161990 chr1:175162263-175162273
19	POLR2A	chr1:175161747-175162558	MCF-7	breast:	n/a	n/a
20	MYC	chr1:175161995-175162921	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr1:175160461-175162587	GM18505	blood:	n/a	n/a
22	TEAD4	chr1:175161931-175162694	K562	blood:	n/a	n/a
23	MYC	chr1:175161324-175163163	K562	blood:	n/a	n/a
24	EP300	chr1:175161263-175162605	K562	blood:	n/a	chr1:175162319-175162335
25	POLR2A	chr1:175161324-175162592	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr1:175161397-175162589	GM12878	blood:	n/a	chr1:175162261-175162271
27	POLR2A	chr1:175161694-175162568	HCT-116	colon:	n/a	n/a
28	MAX	chr1:175161360-175162671	K562	blood:	n/a	n/a
29	CTCF	chr1:175162440-175162590	GM12866	blood:	n/a	n/a
30	CTCF	chr1:175162520-175162670	HMEC	breast:	n/a	n/a
31	CTCF	chr1:175162480-175162630	GM12875	blood:	n/a	n/a
32	SIN3AK20	chr1:175160672-175162746	MCF-7	breast:	n/a	n/a
33	POLR2A	chr1:175162512-175162651	Hela-S3	cervix:	n/a	n/a
34	JUND	chr1:175160789-175162751	K562	blood:	n/a	chr1:175162651-175162660 chr1:175162264-175162273
35	SMARCB1	chr1:175161292-175163080	Hela-S3	cervix:	n/a	n/a
36	YY1	chr1:175162053-175162550	H1-hESC	embryonic stem cell:	n/a	chr1:175162328-175162339 chr1:175162263-175162272 chr1:175162271-175162281 chr1:175162330-175162344
37	MAX	chr1:175162450-175163032	H1-hESC	embryonic stem cell:	n/a	n/a
38	STAT3	chr1:175162108-175162913	MCF10A-Er-Src	breast:	n/a	chr1:175162373-175162382 chr1:175162441-175162452 chr1:175162443-175162452 chr1:175162442-175162451 chr1:175162372-175162381 chr1:175162259-175162271 chr1:175162409-175162420
39	CTCF	chr1:175161906-175162542	K562	blood:	n/a	chr1:175162135-175162148
40	POLR2A	chr1:175161648-175162578	MCF-7	breast:	n/a	n/a
41	MTA3	chr1:175161496-175162565	GM12878	blood:	n/a	n/a
42	CTCF	chr1:175162480-175162630	Caco-2	colon:	n/a	n/a
43	SIN3A	chr1:175160857-175162830	H1-hESC	embryonic stem cell:	n/a	chr1:175162635-175162643 chr1:175162633-175162642
44	POLR2A	chr1:175160557-175162695	GM12878	blood:	n/a	n/a
45	ELF1	chr1:175161772-175162662	MCF-7	breast:	n/a	chr1:175162263-175162275
46	CTCF	chr1:175162480-175162630	GM12872	blood:	n/a	n/a
47	NR2F2	chr1:175161620-175162592	MCF-7	breast:	n/a	n/a
48	MYC	chr1:175160913-175162717	K562	blood:	n/a	n/a
49	ZNF143	chr1:175161972-175162613	Hela-S3	cervix:	n/a	n/a
50	UBTF	chr1:175161268-175162600	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:175162515-175162565	HRPEpiC	eye:	n/a
2	chr1:175162515-175162565	PrEC	prostate:	n/a
3	chr1:175162515-175162565	SK-N-SH_RA	brain:	n/a
4	chr1:175162515-175162565	T-47D	breast:	n/a
5	chr1:175162515-175162565	SK-N-MC	brain:	n/a
6	chr1:175162515-175162565	NB4	blood:	n/a
7	chr1:175162515-175162565	HCPEpiC	choroid plexus:	n/a
8	chr1:175162515-175162565	HEK293	kidney:	embryo
9	chr1:175162515-175162565	NHBE	bronchial:	n/a
10	chr1:175162515-175162565	GM12891	blood:	n/a
11	chr1:175162515-175162565	SAEC	small airway:	n/a
12	chr1:175162515-175162565	MCF-7	breast:	n/a
13	chr1:175162515-175162565	HMEC	breast:	n/a
14	chr1:175162515-175162565	NH-A	brain:	n/a
15	chr1:175162515-175162565	Hepatocyte	liver:	n/a
16	chr1:175162515-175162565	GM12892	blood:	n/a
17	chr1:175162515-175162565	HAEpiC	amniotic membrane:	n/a
18	chr1:175162515-175162565	GM06990	blood:	n/a
19	chr1:175162515-175162565	HCF	heart:	n/a
20	chr1:175162515-175162565	NT2-D1	testis:	n/a
21	chr1:175162515-175162565	GM12878	blood:	n/a
22	chr1:175162515-175162565	NHDF-neo	bronchial:	n/a
23	chr1:175162515-175162565	SK-N-SH	brain:	n/a
24	chr1:175162515-175162565	AoSMC	blood vessel:	n/a
25	chr1:175162515-175162565	HEEpiC	esophagus:	n/a
26	chr1:175162515-175162565	ovcar-3	ovarian:	n/a
27	chr1:175162515-175162565	AG10803	skin:	n/a
28	chr1:175162515-175162565	ECC-1	luminal epithelium:	n/a
29	chr1:175162515-175162565	H1-hESC	embryonic stem cell:	embryo
30	chr1:175162515-175162565	MCF10A-Er-Src	breast:	n/a
31	chr1:175162515-175162565	AG04449	skin:	fetal
32	chr1:175162515-175162565	IMR90	lung:	fetal
33	chr1:175162515-175162565	CMK	blood:	n/a
34	chr1:175162515-175162565	Hela-S3	cervix:	n/a
35	chr1:175162515-175162565	HCT-116	colon:	n/a
36	chr1:175162515-175162565	ProgFib	skin:	n/a
37	chr1:175162515-175162565	GM19239	blood:	n/a
38	chr1:175162515-175162565	HepG2	liver:	n/a
39	chr1:175162515-175162565	LNCaP	prostate:	n/a
40	chr1:175162515-175162565	HL-60	blood:	n/a
41	chr1:175162515-175162565	Jurkat	blood:	n/a
42	chr1:175162515-175162565	BJ	skin:	n/a
43	chr1:175162515-175162565	HPAEpiC	pulmonary alveolar:	n/a
44	chr1:175162515-175162565	Caco-2	colon:	n/a
45	chr1:175162515-175162565	K562	blood:	n/a
46	chr1:175162515-175162565	AG09319	gingival:	n/a
47	chr1:175162515-175162565	HRCEpiC	kidney:	n/a
48	chr1:175162515-175162565	BE2_C	brain:	n/a
49	chr1:175162515-175162565	RPTEC	kidney:	n/a
50	chr1:175162515-175162565	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr1:175160599..175162642-chr17:57913163..57915904,2	MCF-7	breast:
2	chr1:175152638..175154572-chr1:175162288..175163836,2	K562	blood:
3	chr1:175160152..175162627-chr1:176175775..176178430,2	MCF-7	breast:
4	chr1:175162286..175164417-chr1:175190945..175192662,2	MCF-7	breast:

Variant related genes	Relation type
KIAA0040	TF binding region
KIAA0040	CpG island
ENSG00000236021	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000143207	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949473	chr1:175151666-175391741	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv15667	chr1:175161934-175163375	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175158400-175162800	Active TSS	Rectal Smooth Muscle	rectum
2	chr1:175159200-175162600	Active TSS	Lung	lung
3	chr1:175159800-175162600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:175160400-175162600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr1:175160600-175163000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:175160600-175163200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr1:175160800-175162600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr1:175160800-175162600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:175160800-175162600	Active TSS	Aorta	Aorta
10	chr1:175160800-175162600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:175160800-175162600	Active TSS	Fetal Kidney	kidney
12	chr1:175160800-175162600	Active TSS	Gastric	stomach
13	chr1:175160800-175162600	Active TSS	Ovary	ovary
14	chr1:175160800-175162600	Active TSS	Psoas Muscle	Psoas
15	chr1:175160800-175162800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr1:175160800-175162800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:175160800-175163000	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr1:175161000-175162600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr1:175161000-175162600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr1:175161000-175162800	Active TSS	Colon Smooth Muscle	Colon
21	chr1:175161200-175162600	Active TSS	HSMM	muscle
22	chr1:175161200-175162800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:175161400-175162800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr1:175161600-175162800	Active TSS	Brain Anterior Caudate	brain
25	chr1:175161800-175162600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:175161800-175162600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:175161800-175162600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:175161800-175162600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:175161800-175162600	Enhancers	Fetal Brain Male	brain
30	chr1:175161800-175162800	Bivalent/Poised TSS	Fetal Brain Female	brain
31	chr1:175161800-175162800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:175162000-175162600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:175162000-175162600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr1:175162000-175162800	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr1:175162000-175162800	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr1:175162200-175162600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:175162200-175162600	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr1:175162200-175162600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr1:175162200-175162600	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr1:175162200-175162600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:175162200-175162600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:175162200-175162600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:175162200-175162600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:175162200-175162600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:175162200-175162600	Flanking Active TSS	Fetal Thymus	thymus
46	chr1:175162200-175162600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr1:175162200-175162600	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr1:175162200-175162600	Flanking Active TSS	GM12878-XiMat	blood
49	chr1:175162200-175162600	Flanking Active TSS	HMEC	breast
50	chr1:175162200-175162600	Flanking Active TSS	NHEK	skin

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