Variant report

Variant	rs578204032
Chromosome Location	chr1:95583559-95583560
allele	C/G
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	MAX	chr1:95582244-95583623	K562	blood:	n/a	chr1:95582839-95582849
2	MAZ	chr1:95582229-95583886	K562	blood:	n/a	chr1:95582839-95582849 chr1:95583662-95583672
3	CHD2	chr1:95583517-95583717	K562	blood:	n/a	n/a
4	MXI1	chr1:95582035-95584169	SK-N-SH	brain:	n/a	n/a
5	RCOR1	chr1:95582229-95583998	K562	blood:	n/a	n/a
6	MYC	chr1:95582180-95583565	K562	blood:	n/a	chr1:95582839-95582849
7	YY1	chr1:95583207-95583580	K562	blood:	n/a	chr1:95583236-95583247 chr1:95583525-95583539 chr1:95583233-95583247
8	E2F6	chr1:95583113-95583570	K562	blood:	n/a	chr1:95583278-95583290 chr1:95583131-95583141
9	RFX5	chr1:95583399-95583577	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:95583385-95583586	Gliobla	brain:	n/a	n/a
11	CTCF	chr1:95582896-95583589	K562	blood:	n/a	chr1:95583111-95583124 chr1:95583109-95583127
12	SMARCB1	chr1:95582265-95583701	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr1:95583460-95583703	HepG2	liver:	n/a	n/a
14	ZBTB7A	chr1:95582725-95583569	K562	blood:	n/a	n/a
15	CHD1	chr1:95583386-95583581	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZNF263	chr1:95582209-95583813	HEK293-T-REx	kidney:	n/a	chr1:95583198-95583207
17	EP300	chr1:95583381-95583577	HepG2	liver:	n/a	n/a
18	BACH1	chr1:95583325-95583787	H1-hESC	embryonic stem cell:	n/a	n/a
19	FOXA2	chr1:95583448-95583949	A549	lung:	n/a	n/a
20	RAD21	chr1:95582036-95584093	SK-N-SH	brain:	n/a	chr1:95583750-95583757 chr1:95583050-95583063 chr1:95583664-95583676 chr1:95583662-95583681 chr1:95583109-95583121 chr1:95583107-95583126
21	POLR2A	chr1:95582211-95583676	Hela-S3	cervix:	n/a	n/a
22	SMC3	chr1:95582167-95583754	SK-N-SH	brain:	n/a	n/a
23	CTCF	chr1:95582103-95583749	SK-N-SH	brain:	n/a	chr1:95583111-95583124 chr1:95583109-95583127
24	CTBP2	chr1:95582265-95583734	H1-hESC	embryonic stem cell:	n/a	n/a
25	SMC3	chr1:95583510-95583590	Hela-S3	cervix:	n/a	n/a
26	NANOG	chr1:95583332-95583601	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr1:95583511-95583587	MCF-7	breast:	n/a	n/a
28	HA-E2F1	chr1:95582613-95583641	Hela-S3	cervix:	n/a	chr1:95583278-95583289 chr1:95583278-95583290 chr1:95582642-95582651 chr1:95583131-95583141
29	HDAC2	chr1:95582620-95583589	HepG2	liver:	n/a	chr1:95583139-95583148
30	FOXA2	chr1:95583528-95583783	HepG2	liver:	n/a	n/a
31	HMGN3	chr1:95582653-95583644	K562	blood:	n/a	n/a
32	UBTF	chr1:95582060-95583903	K562	blood:	n/a	n/a
33	YY1	chr1:95582591-95583715	HepG2	liver:	n/a	chr1:95583236-95583247 chr1:95583661-95583670 chr1:95583525-95583539 chr1:95582891-95582905 chr1:95582940-95582954 chr1:95582637-95582651 chr1:95583233-95583247 chr1:95583658-95583669
34	MAZ	chr1:95582326-95583624	HepG2	liver:	n/a	chr1:95582839-95582849
35	MAX	chr1:95582162-95583828	HCT-116	colon:	n/a	chr1:95582839-95582849 chr1:95583662-95583672
36	CHD2	chr1:95582251-95583700	Hela-S3	cervix:	n/a	chr1:95583227-95583237
37	BHLHE40	chr1:95582280-95583563	K562	blood:	n/a	chr1:95583129-95583145 chr1:95583132-95583148 chr1:95582635-95582651
38	SIN3A	chr1:95582279-95583614	H1-hESC	embryonic stem cell:	n/a	chr1:95583060-95583069 chr1:95583234-95583247
39	HA-E2F1	chr1:95582236-95583750	MCF-7	breast:	n/a	chr1:95583278-95583289 chr1:95583278-95583290 chr1:95582289-95582298 chr1:95582642-95582651 chr1:95583131-95583141 chr1:95583661-95583670
40	EGR1	chr1:95583036-95583574	K562	blood:	n/a	chr1:95583132-95583154
41	POLR2A	chr1:95582778-95583626	H1-neurons	neurons:	n/a	n/a
42	TEAD4	chr1:95583346-95583655	H1-hESC	embryonic stem cell:	n/a	n/a
43	CCNT2	chr1:95582301-95583768	K562	blood:	n/a	chr1:95583655-95583664 chr1:95583192-95583201
44	POLR2A	chr1:95581058-95585752	PBDE	blood:	n/a	n/a
45	UBTF	chr1:95582227-95583736	K562	blood:	n/a	n/a
46	FOXA1	chr1:95583508-95583804	T-47D	breast:	n/a	n/a
47	GATA1	chr1:95580973-95585387	PBDE	blood:	n/a	chr1:95581629-95581640 chr1:95583211-95583219 chr1:95582032-95582048 chr1:95584335-95584344 chr1:95584460-95584467
48	POLR2A	chr1:95582207-95583725	ECC-1	luminal epithelium:	n/a	n/a
49	CTCF	chr1:95583500-95583650	HRE	kidney:	n/a	n/a
50	CTCF	chr1:95583460-95583610	HAc	cerebellar:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:95583518-95583568	T-47D	breast:	n/a
2	chr1:95583518-95583568	CMK	blood:	n/a
3	chr1:95583518-95583568	GM12878	blood:	n/a
4	chr1:95583518-95583568	ovcar-3	ovarian:	n/a
5	chr1:95583518-95583568	LNCaP	prostate:	n/a
6	chr1:95583518-95583568	Hepatocyte	liver:	n/a
7	chr1:95583518-95583568	HCF	heart:	n/a
8	chr1:95583518-95583568	U87	brain:	n/a
9	chr1:95583518-95583568	NHDF-neo	bronchial:	n/a
10	chr1:95583518-95583568	MCF-7	breast:	n/a
11	chr1:95583518-95583568	HCM	heart:	n/a
12	chr1:95583518-95583568	HIPEpiC	eye:	n/a
13	chr1:95583518-95583568	HEEpiC	esophagus:	n/a
14	chr1:95583518-95583568	HepG2	liver:	n/a
15	chr1:95583518-95583568	GM06990	blood:	n/a
16	chr1:95583518-95583568	SK-N-SH_RA	brain:	n/a
17	chr1:95583518-95583568	HMEC	breast:	n/a
18	chr1:95583518-95583568	HCT-116	colon:	n/a
19	chr1:95583518-95583568	HCPEpiC	choroid plexus:	n/a
20	chr1:95583518-95583568	GM19239	blood:	n/a
21	chr1:95583518-95583568	AG10803	skin:	n/a
22	chr1:95583518-95583568	AG09319	gingival:	n/a
23	chr1:95583518-95583568	HPAEpiC	pulmonary alveolar:	n/a
24	chr1:95583518-95583568	BJ	skin:	n/a
25	chr1:95583518-95583568	RPTEC	kidney:	n/a
26	chr1:95583518-95583568	AG04449	skin:	fetal
27	chr1:95583518-95583568	NHBE	bronchial:	n/a
28	chr1:95583518-95583568	SK-N-SH	brain:	n/a
29	chr1:95583518-95583568	AG04450	lung:	fetal
30	chr1:95583518-95583568	BE2_C	brain:	n/a
31	chr1:95583518-95583568	HAEpiC	amniotic membrane:	n/a
32	chr1:95583518-95583568	MCF10A-Er-Src	breast:	n/a
33	chr1:95583518-95583568	NB4	blood:	n/a
34	chr1:95583518-95583568	GM12892	blood:	n/a
35	chr1:95583518-95583568	AG09309	skin:	n/a
36	chr1:95583518-95583568	Jurkat	blood:	n/a
37	chr1:95583518-95583568	ECC-1	luminal epithelium:	n/a
38	chr1:95583518-95583568	ProgFib	skin:	n/a
39	chr1:95583518-95583568	HRCEpiC	kidney:	n/a
40	chr1:95583518-95583568	HEK293	kidney:	embryo
41	chr1:95583518-95583568	K562	blood:	n/a
42	chr1:95583518-95583568	NH-A	brain:	n/a
43	chr1:95583518-95583568	SK-N-MC	brain:	n/a
44	chr1:95583518-95583568	A549	lung:	n/a
45	chr1:95583518-95583568	HNPCEpiC	eye:	n/a
46	chr1:95583518-95583568	NT2-D1	testis:	n/a
47	chr1:95583518-95583568	SKMC	muscle:	n/a
48	chr1:95583518-95583568	PANC-1	pancreas:	n/a
49	chr1:95583518-95583568	HUVEC	blood vessel:	n/a
50	chr1:95583518-95583568	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:95581571..95584597-chr1:95698513..95700535,3	MCF-7	breast:
2	chr1:95582616..95585939-chr1:95698259..95700506,4	K562	blood:
3	chr1:95581745..95584156-chr1:95699309..95702187,2	MCF-7	breast:
4	chr1:95582782..95583689-chr1:167189292..167190213,2	Hela-S3	cervix:
5	chr1:95582556..95585358-chr1:95698094..95701319,5	K562	blood:
6	chr1:95580754..95585035-chr1:95586074..95591340,6	K562	blood:

Variant related genes	Relation type
ENSG00000231992	TF binding region
ENSG00000231992	CpG island
ENSG00000143190	Chromatin interaction
ENSG00000206679	Chromatin interaction
ENSG00000226026	Chromatin interaction
ENSG00000122481	Chromatin interaction
ENSG00000272205	Chromatin interaction

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	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3354291	chr1:95580964-95585362	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
3	esv3407777	chr1:95581989-95584537	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
4	esv3326839	chr1:95582464-95584412	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
5	nsv823609	chr1:95582618-95583747	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	11 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	chr1:95582000-95583600	Active TSS	Stomach Smooth Muscle	stomach
2	chr1:95582000-95584200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:95582000-95584800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr1:95582200-95583600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr1:95582200-95583600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:95582200-95583600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr1:95582200-95583600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
8	chr1:95582200-95583600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr1:95582200-95583600	Active TSS	Duodenum Mucosa	Duodenum
10	chr1:95582200-95583600	Active TSS	Fetal Brain Female	brain
11	chr1:95582200-95583600	Active TSS	Fetal Kidney	kidney
12	chr1:95582200-95583800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:95582200-95583800	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr1:95582200-95583800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:95582200-95583800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr1:95582200-95583800	Bivalent/Poised TSS	NHDF-Ad	bronchial
17	chr1:95582200-95584000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr1:95582200-95584000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:95582200-95584000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:95582200-95584000	Active TSS	Aorta	Aorta
21	chr1:95582200-95584000	Active TSS	Brain Angular Gyrus	brain
22	chr1:95582200-95584000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:95582200-95584000	Active TSS	Colon Smooth Muscle	Colon
24	chr1:95582200-95584000	Active TSS	Left Ventricle	heart
25	chr1:95582200-95584200	Active TSS	A549	lung
26	chr1:95582200-95584400	Active TSS	Brain Cingulate Gyrus	brain
27	chr1:95582200-95584400	Active TSS	Rectal Smooth Muscle	rectum
28	chr1:95582200-95584600	Active TSS	Right Atrium	heart
29	chr1:95582200-95584600	Active TSS	Right Ventricle	heart
30	chr1:95582400-95583600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr1:95582400-95583600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:95582400-95583600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:95582400-95583600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:95582400-95583600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:95582400-95583600	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr1:95582400-95583600	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr1:95582400-95583600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:95582400-95583600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:95582400-95583600	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr1:95582400-95583600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:95582400-95583600	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr1:95582400-95583600	Active TSS	Fetal Intestine Large	intestine
43	chr1:95582400-95583600	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr1:95582400-95583600	Flanking Bivalent TSS/Enh	Thymus	Thymus
45	chr1:95582400-95583600	Active TSS	K562	blood
46	chr1:95582400-95583800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
47	chr1:95582400-95583800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
48	chr1:95582400-95583800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:95582400-95583800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:95582400-95583800	Active TSS	Brain Anterior Caudate	brain

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