Variant report

Variant	rs540508751
Chromosome Location	chr1:95583606-95583607
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	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	SMARCB1	chr1:95582265-95583701	Hela-S3	cervix:	n/a	n/a
7	CHD2	chr1:95583460-95583703	HepG2	liver:	n/a	n/a
8	MAX	chr1:95583587-95583763	HepG2	liver:	n/a	chr1:95583662-95583672
9	ZNF263	chr1:95582209-95583813	HEK293-T-REx	kidney:	n/a	chr1:95583198-95583207
10	RCOR1	chr1:95583599-95583874	Hela-S3	cervix:	n/a	n/a
11	BACH1	chr1:95583325-95583787	H1-hESC	embryonic stem cell:	n/a	n/a
12	FOXA2	chr1:95583448-95583949	A549	lung:	n/a	n/a
13	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
14	POLR2A	chr1:95582211-95583676	Hela-S3	cervix:	n/a	n/a
15	SMC3	chr1:95582167-95583754	SK-N-SH	brain:	n/a	n/a
16	CTCF	chr1:95582103-95583749	SK-N-SH	brain:	n/a	chr1:95583111-95583124 chr1:95583109-95583127
17	CTBP2	chr1:95582265-95583734	H1-hESC	embryonic stem cell:	n/a	n/a
18	HA-E2F1	chr1:95582613-95583641	Hela-S3	cervix:	n/a	chr1:95583278-95583289 chr1:95583278-95583290 chr1:95582642-95582651 chr1:95583131-95583141
19	FOXA2	chr1:95583528-95583783	HepG2	liver:	n/a	n/a
20	HMGN3	chr1:95582653-95583644	K562	blood:	n/a	n/a
21	UBTF	chr1:95582060-95583903	K562	blood:	n/a	n/a
22	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
23	MAZ	chr1:95582326-95583624	HepG2	liver:	n/a	chr1:95582839-95582849
24	MAX	chr1:95582162-95583828	HCT-116	colon:	n/a	chr1:95582839-95582849 chr1:95583662-95583672
25	CHD2	chr1:95582251-95583700	Hela-S3	cervix:	n/a	chr1:95583227-95583237
26	SIN3A	chr1:95582279-95583614	H1-hESC	embryonic stem cell:	n/a	chr1:95583060-95583069 chr1:95583234-95583247
27	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
28	POLR2A	chr1:95582778-95583626	H1-neurons	neurons:	n/a	n/a
29	ZKSCAN1	chr1:95583560-95583760	Hela-S3	cervix:	n/a	n/a
30	TEAD4	chr1:95583346-95583655	H1-hESC	embryonic stem cell:	n/a	n/a
31	CCNT2	chr1:95582301-95583768	K562	blood:	n/a	chr1:95583655-95583664 chr1:95583192-95583201
32	POLR2A	chr1:95581058-95585752	PBDE	blood:	n/a	n/a
33	UBTF	chr1:95582227-95583736	K562	blood:	n/a	n/a
34	RCOR1	chr1:95583598-95584185	K562	blood:	n/a	n/a
35	FOXA1	chr1:95583508-95583804	T-47D	breast:	n/a	n/a
36	GATA1	chr1:95580973-95585387	PBDE	blood:	n/a	chr1:95581629-95581640 chr1:95583211-95583219 chr1:95582032-95582048 chr1:95584335-95584344 chr1:95584460-95584467
37	POLR2A	chr1:95582207-95583725	ECC-1	luminal epithelium:	n/a	n/a
38	CTCF	chr1:95583500-95583650	HRE	kidney:	n/a	n/a
39	CTCF	chr1:95583460-95583610	HAc	cerebellar:	n/a	n/a
40	TCF7L2	chr1:95582317-95583835	HCT-116	colon:	n/a	n/a
41	ZBTB7A	chr1:95583040-95583740	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr1:95583513-95583823	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr1:95582276-95583880	HepG2	liver:	n/a	n/a
44	MXI1	chr1:95583502-95583653	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:95583571-95583621	SAEC	small airway:	n/a
2	chr1:95583571-95583621	PFSK-1	brain:	n/a
3	chr1:95583571-95583621	HCPEpiC	choroid plexus:	n/a
4	chr1:95583571-95583621	HRPEpiC	eye:	n/a
5	chr1:95583571-95583621	SKMC	muscle:	n/a
6	chr1:95583571-95583621	ProgFib	skin:	n/a
7	chr1:95583571-95583621	Caco-2	colon:	n/a
8	chr1:95583571-95583621	A549	lung:	n/a
9	chr1:95583571-95583621	HCM	heart:	n/a
10	chr1:95583571-95583621	HEEpiC	esophagus:	n/a
11	chr1:95583571-95583621	HUVEC	blood vessel:	n/a
12	chr1:95583571-95583621	GM12892	blood:	n/a
13	chr1:95583571-95583621	HNPCEpiC	eye:	n/a
14	chr1:95583571-95583621	HMEC	breast:	n/a
15	chr1:95583571-95583621	PrEC	prostate:	n/a
16	chr1:95583571-95583621	RPTEC	kidney:	n/a
17	chr1:95583571-95583621	NH-A	brain:	n/a
18	chr1:95583571-95583621	K562	blood:	n/a
19	chr1:95583571-95583621	SK-N-MC	brain:	n/a
20	chr1:95583571-95583621	U87	brain:	n/a
21	chr1:95583571-95583621	HIPEpiC	eye:	n/a
22	chr1:95583571-95583621	LNCaP	prostate:	n/a
23	chr1:95583571-95583621	GM12878	blood:	n/a
24	chr1:95583571-95583621	MCF10A-Er-Src	breast:	n/a
25	chr1:95583571-95583621	AG04450	lung:	fetal
26	chr1:95583571-95583621	GM12891	blood:	n/a
27	chr1:95583571-95583621	PANC-1	pancreas:	n/a
28	chr1:95583571-95583621	HCF	heart:	n/a
29	chr1:95583571-95583621	NHDF-neo	bronchial:	n/a
30	chr1:95583571-95583621	HRCEpiC	kidney:	n/a
31	chr1:95583571-95583621	Hela-S3	cervix:	n/a
32	chr1:95583571-95583621	HepG2	liver:	n/a
33	chr1:95583571-95583621	NB4	blood:	n/a
34	chr1:95583571-95583621	H1-hESC	embryonic stem cell:	embryo
35	chr1:95583571-95583621	BJ	skin:	n/a
36	chr1:95583571-95583621	NHBE	bronchial:	n/a
37	chr1:95583571-95583621	Jurkat	blood:	n/a
38	chr1:95583571-95583621	ovcar-3	ovarian:	n/a
39	chr1:95583571-95583621	CMK	blood:	n/a
40	chr1:95583571-95583621	BE2_C	brain:	n/a
41	chr1:95583571-95583621	AG10803	skin:	n/a
42	chr1:95583571-95583621	AoSMC	blood vessel:	n/a
43	chr1:95583571-95583621	SK-N-SH_RA	brain:	n/a
44	chr1:95583571-95583621	HL-60	blood:	n/a
45	chr1:95583571-95583621	MCF-7	breast:	n/a
46	chr1:95583571-95583621	HCT-116	colon:	n/a
47	chr1:95583571-95583621	HPAEpiC	pulmonary alveolar:	n/a
48	chr1:95583571-95583621	AG09309	skin:	n/a
49	chr1:95583571-95583621	HEK293	kidney:	embryo
50	chr1:95583571-95583621	NT2-D1	testis:	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
ENSG00000122481	Chromatin interaction
ENSG00000226026	Chromatin interaction
ENSG00000143190	Chromatin interaction
ENSG00000272205	Chromatin interaction
ENSG00000206679	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95582000-95584200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:95582000-95584800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr1:95582200-95583800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:95582200-95583800	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr1:95582200-95583800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:95582200-95583800	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr1:95582200-95583800	Bivalent/Poised TSS	NHDF-Ad	bronchial
8	chr1:95582200-95584000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr1:95582200-95584000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:95582200-95584000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:95582200-95584000	Active TSS	Aorta	Aorta
12	chr1:95582200-95584000	Active TSS	Brain Angular Gyrus	brain
13	chr1:95582200-95584000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:95582200-95584000	Active TSS	Colon Smooth Muscle	Colon
15	chr1:95582200-95584000	Active TSS	Left Ventricle	heart
16	chr1:95582200-95584200	Active TSS	A549	lung
17	chr1:95582200-95584400	Active TSS	Brain Cingulate Gyrus	brain
18	chr1:95582200-95584400	Active TSS	Rectal Smooth Muscle	rectum
19	chr1:95582200-95584600	Active TSS	Right Atrium	heart
20	chr1:95582200-95584600	Active TSS	Right Ventricle	heart
21	chr1:95582400-95583800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
22	chr1:95582400-95583800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
23	chr1:95582400-95583800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:95582400-95583800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:95582400-95583800	Active TSS	Brain Anterior Caudate	brain
26	chr1:95582400-95583800	Active TSS	Brain Substantia Nigra	brain
27	chr1:95582400-95583800	Active TSS	Esophagus	oesophagus
28	chr1:95582400-95583800	Active TSS	Gastric	stomach
29	chr1:95582400-95583800	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr1:95582400-95583800	Active TSS	Hela-S3	cervix
31	chr1:95582400-95583800	Bivalent/Poised TSS	HepG2	liver
32	chr1:95582400-95583800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
33	chr1:95582400-95584000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:95582400-95584000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:95582400-95584000	Active TSS	Fetal Intestine Small	intestine
36	chr1:95582400-95584000	Active TSS	Pancreas	Pancrea
37	chr1:95582600-95583800	Active TSS	Ovary	ovary
38	chr1:95582600-95583800	Active TSS	HSMMtube	muscle
39	chr1:95582800-95583800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:95582800-95583800	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr1:95582800-95583800	Active TSS	Liver	Liver
42	chr1:95582800-95583800	Active TSS	Small Intestine	intestine
43	chr1:95582800-95583800	Bivalent/Poised TSS	HSMM	muscle
44	chr1:95582800-95583800	Bivalent/Poised TSS	Osteobl	bone
45	chr1:95582800-95584000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:95582800-95584000	Active TSS	Lung	lung
47	chr1:95583200-95583800	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:95583200-95583800	Bivalent Enhancer	GM12878-XiMat	blood
49	chr1:95583200-95583800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
50	chr1:95583200-95584000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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