Variant report

Variant	rs544778433
Chromosome Location	chr1:95582825-95582826
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	GTF2F1	chr1:95582814-95582853	Hela-S3	cervix:	n/a	n/a
4	TAF1	chr1:95582704-95582984	K562	blood:	n/a	n/a
5	REST	chr1:95581938-95583315	H1-neurons	neurons:	n/a	chr1:95583217-95583230 chr1:95582375-95582395 chr1:95583161-95583174 chr1:95582615-95582635 chr1:95582615-95582635
6	RFX5	chr1:95582182-95583171	Hela-S3	cervix:	n/a	n/a
7	ZNF384	chr1:95582307-95583254	K562	blood:	n/a	chr1:95582602-95582610
8	EP300	chr1:95582217-95582946	K562	blood:	n/a	chr1:95582867-95582883 chr1:95582863-95582879 chr1:95582828-95582844
9	CTCF	chr1:95582105-95583015	HCT-116	colon:	n/a	n/a
10	ELK1	chr1:95582718-95582896	Hela-S3	cervix:	n/a	n/a
11	RUNX3	chr1:95582779-95583077	GM12878	blood:	n/a	n/a
12	MXI1	chr1:95582035-95584169	SK-N-SH	brain:	n/a	n/a
13	RCOR1	chr1:95582229-95583998	K562	blood:	n/a	n/a
14	TAF1	chr1:95582160-95583351	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr1:95582771-95583068	MCF-7	breast:	n/a	n/a
16	ELF1	chr1:95582664-95583338	K562	blood:	n/a	chr1:95582931-95582943 chr1:95583118-95583130
17	YY1	chr1:95582669-95583177	K562	blood:	n/a	chr1:95582891-95582905 chr1:95582940-95582954
18	MYC	chr1:95582180-95583565	K562	blood:	n/a	chr1:95582839-95582849
19	TEAD4	chr1:95582150-95582885	K562	blood:	n/a	n/a
20	HEY1	chr1:95582312-95583218	HepG2	liver:	n/a	chr1:95583135-95583150
21	POLR2A	chr1:95582489-95583402	HepG2	liver:	n/a	n/a
22	MAX	chr1:95582674-95583249	SK-N-SH	brain:	n/a	chr1:95582839-95582849
23	POLR2A	chr1:95582782-95583047	MCF10A-Er-Src	breast:	n/a	n/a
24	MAX	chr1:95582179-95583242	Hela-S3	cervix:	n/a	chr1:95582839-95582849
25	MYBL2	chr1:95582154-95582862	HepG2	liver:	n/a	n/a
26	TAF1	chr1:95582815-95583135	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr1:95582222-95582906	Hela-S3	cervix:	n/a	n/a
28	TBL1XR1	chr1:95582195-95583199	K562	blood:	n/a	n/a
29	RAD21	chr1:95582312-95583009	IMR90	lung:	n/a	n/a
30	RAD21	chr1:95582156-95583515	H1-hESC	embryonic stem cell:	n/a	chr1:95583050-95583063 chr1:95583109-95583121 chr1:95583107-95583126
31	RCOR1	chr1:95582190-95583315	Hela-S3	cervix:	n/a	n/a
32	MAX	chr1:95582105-95583117	ECC-1	luminal epithelium:	n/a	chr1:95582839-95582849
33	TAF1	chr1:95582791-95583122	SK-N-SH	brain:	n/a	n/a
34	CTCF	chr1:95581805-95583042	A549	lung:	n/a	n/a
35	SMARCB1	chr1:95582265-95583701	Hela-S3	cervix:	n/a	n/a
36	RAD21	chr1:95582548-95583218	HepG2	liver:	n/a	chr1:95583050-95583063 chr1:95583109-95583121 chr1:95583107-95583126
37	TAF7	chr1:95582351-95583144	H1-hESC	embryonic stem cell:	n/a	n/a
38	SMC3	chr1:95582271-95582983	K562	blood:	n/a	n/a
39	BACH1	chr1:95582140-95583091	H1-hESC	embryonic stem cell:	n/a	n/a
40	TCF7L2	chr1:95582275-95583199	Hela-S3	cervix:	n/a	n/a
41	ZBTB7A	chr1:95582725-95583569	K562	blood:	n/a	n/a
42	EGR1	chr1:95582412-95582903	ECC-1	luminal epithelium:	n/a	chr1:95582633-95582655 chr1:95582640-95582650 chr1:95582637-95582650 chr1:95582639-95582649 chr1:95582638-95582649 chr1:95582640-95582649 chr1:95582636-95582651 chr1:95582637-95582650 chr1:95582637-95582650 chr1:95582637-95582651 chr1:95582638-95582652 chr1:95582637-95582650 chr1:95582839-95582849 chr1:95582639-95582649
43	POLR2A	chr1:95582810-95583331	A549	lung:	n/a	n/a
44	EGR1	chr1:95582297-95582964	K562	blood:	n/a	chr1:95582633-95582655 chr1:95582640-95582650 chr1:95582637-95582650 chr1:95582639-95582649 chr1:95582638-95582649 chr1:95582640-95582649 chr1:95582636-95582651 chr1:95582637-95582650 chr1:95582637-95582650 chr1:95582637-95582651 chr1:95582949-95582959 chr1:95582638-95582652 chr1:95582637-95582650 chr1:95582839-95582849 chr1:95582639-95582649
45	KAP1	chr1:95582130-95582932	U2OS	brain:	n/a	n/a
46	ZNF263	chr1:95582209-95583813	HEK293-T-REx	kidney:	n/a	chr1:95583198-95583207
47	ELF1	chr1:95582540-95582855	GM12878	blood:	n/a	n/a
48	NFIC	chr1:95582514-95583334	ECC-1	luminal epithelium:	n/a	n/a
49	TAF1	chr1:95582651-95583178	K562	blood:	n/a	n/a
50	EGR1	chr1:95582207-95582922	K562	blood:	n/a	chr1:95582633-95582655 chr1:95582640-95582650 chr1:95582637-95582650 chr1:95582639-95582649 chr1:95582638-95582649 chr1:95582640-95582649 chr1:95582636-95582651 chr1:95582637-95582650 chr1:95582637-95582650 chr1:95582637-95582651 chr1:95582638-95582652 chr1:95582637-95582650 chr1:95582839-95582849 chr1:95582639-95582649

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:95582822-95582872	U87	brain:	n/a
2	chr1:95582789-95582839	SAEC	small airway:	n/a
3	chr1:95582825-95582875	AG10803	skin:	n/a
4	chr1:95582789-95582839	PFSK-1	brain:	n/a
5	chr1:95582822-95582872	HMEC	breast:	n/a
6	chr1:95582789-95582839	H1-hESC	embryonic stem cell:	embryo
7	chr1:95582825-95582875	HRCEpiC	kidney:	n/a
8	chr1:95582822-95582872	SK-N-MC	brain:	n/a
9	chr1:95582822-95582872	NH-A	brain:	n/a
10	chr1:95582825-95582875	GM12891	blood:	n/a
11	chr1:95582822-95582872	MCF10A-Er-Src	breast:	n/a
12	chr1:95582789-95582839	U87	brain:	n/a
13	chr1:95582825-95582875	GM06990	blood:	n/a
14	chr1:95582822-95582872	AG04450	lung:	fetal
15	chr1:95582822-95582872	HIPEpiC	eye:	n/a
16	chr1:95582789-95582839	GM06990	blood:	n/a
17	chr1:95582825-95582875	HEEpiC	esophagus:	n/a
18	chr1:95582822-95582872	HCPEpiC	choroid plexus:	n/a
19	chr1:95582822-95582872	HUVEC	blood vessel:	n/a
20	chr1:95582825-95582875	HCPEpiC	choroid plexus:	n/a
21	chr1:95582789-95582839	MCF-7	breast:	n/a
22	chr1:95582789-95582839	AG04449	skin:	fetal
23	chr1:95582825-95582875	Hela-S3	cervix:	n/a
24	chr1:95582822-95582872	CMK	blood:	n/a
25	chr1:95582825-95582875	PrEC	prostate:	n/a
26	chr1:95582825-95582875	HAEpiC	amniotic membrane:	n/a
27	chr1:95582825-95582875	T-47D	breast:	n/a
28	chr1:95582825-95582875	CMK	blood:	n/a
29	chr1:95582822-95582872	SK-N-SH	brain:	n/a
30	chr1:95582822-95582872	GM19239	blood:	n/a
31	chr1:95582789-95582839	GM12892	blood:	n/a
32	chr1:95582789-95582839	SK-N-SH_RA	brain:	n/a
33	chr1:95582825-95582875	HEK293	kidney:	embryo
34	chr1:95582825-95582875	RPTEC	kidney:	n/a
35	chr1:95582789-95582839	SKMC	muscle:	n/a
36	chr1:95582822-95582872	HEEpiC	esophagus:	n/a
37	chr1:95582789-95582839	NB4	blood:	n/a
38	chr1:95582822-95582872	HL-60	blood:	n/a
39	chr1:95582825-95582875	NHDF-neo	bronchial:	n/a
40	chr1:95582789-95582839	MCF10A-Er-Src	breast:	n/a
41	chr1:95582822-95582872	HCF	heart:	n/a
42	chr1:95582825-95582875	A549	lung:	n/a
43	chr1:95582789-95582839	CMK	blood:	n/a
44	chr1:95582789-95582839	HUVEC	blood vessel:	n/a
45	chr1:95582789-95582839	HepG2	liver:	n/a
46	chr1:95582822-95582872	BE2_C	brain:	n/a
47	chr1:95582825-95582875	IMR90	lung:	fetal
48	chr1:95582825-95582875	HCT-116	colon:	n/a
49	chr1:95582822-95582872	NB4	blood:	n/a
50	chr1:95582789-95582839	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:95581571..95584597-chr1:95698513..95700535,3	MCF-7	breast:
2	chr1:94946963..94948709-chr1:95581027..95583387,2	K562	blood:
3	chr1:95582616..95585939-chr1:95698259..95700506,4	K562	blood:
4	chr1:95537109..95538703-chr1:95581704..95583330,2	MCF-7	breast:
5	chr1:95581745..95584156-chr1:95699309..95702187,2	MCF-7	breast:
6	chr1:95582782..95583689-chr1:167189292..167190213,2	Hela-S3	cervix:
7	chr1:95582496..95583191-chr1:95699224..95700072,2	K562	blood:
8	chr1:95582556..95585358-chr1:95698094..95701319,5	K562	blood:
9	chr1:95580754..95585035-chr1:95586074..95591340,6	K562	blood:

Variant related genes	Relation type
TMEM56-RWDD3	TF binding region
ENSG00000231992	TF binding region
TMEM56	TF binding region
TMEM56-RWDD3	CpG island
ENSG00000231992	CpG island
TMEM56	CpG island
ENSG00000117528	Chromatin interaction
ENSG00000272205	Chromatin interaction
ENSG00000143190	Chromatin interaction
ENSG00000226026	Chromatin interaction
ENSG00000122481	Chromatin interaction
ENSG00000206679	Chromatin interaction
ENSG00000172339	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	chr1:95582000-95583400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr1:95582000-95583600	Active TSS	Stomach Smooth Muscle	stomach
3	chr1:95582000-95584200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:95582000-95584800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr1:95582200-95583200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:95582200-95583200	Active TSS	Colonic Mucosa	Colon
7	chr1:95582200-95583400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:95582200-95583400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:95582200-95583400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:95582200-95583400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:95582200-95583400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:95582200-95583400	Active TSS	Psoas Muscle	Psoas
13	chr1:95582200-95583400	Active TSS	NHLF	lung
14	chr1:95582200-95583600	Active TSS	H1 Cell Line	embryonic stem cell
15	chr1:95582200-95583600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:95582200-95583600	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr1:95582200-95583600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
18	chr1:95582200-95583600	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr1:95582200-95583600	Active TSS	Duodenum Mucosa	Duodenum
20	chr1:95582200-95583600	Active TSS	Fetal Brain Female	brain
21	chr1:95582200-95583600	Active TSS	Fetal Kidney	kidney
22	chr1:95582200-95583800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:95582200-95583800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr1:95582200-95583800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:95582200-95583800	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr1:95582200-95583800	Bivalent/Poised TSS	NHDF-Ad	bronchial
27	chr1:95582200-95584000	Active TSS	H9 Cell Line	embryonic stem cell
28	chr1:95582200-95584000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:95582200-95584000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:95582200-95584000	Active TSS	Aorta	Aorta
31	chr1:95582200-95584000	Active TSS	Brain Angular Gyrus	brain
32	chr1:95582200-95584000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:95582200-95584000	Active TSS	Colon Smooth Muscle	Colon
34	chr1:95582200-95584000	Active TSS	Left Ventricle	heart
35	chr1:95582200-95584200	Active TSS	A549	lung
36	chr1:95582200-95584400	Active TSS	Brain Cingulate Gyrus	brain
37	chr1:95582200-95584400	Active TSS	Rectal Smooth Muscle	rectum
38	chr1:95582200-95584600	Active TSS	Right Atrium	heart
39	chr1:95582200-95584600	Active TSS	Right Ventricle	heart
40	chr1:95582400-95583000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:95582400-95583000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:95582400-95583000	Flanking Active TSS	HMEC	breast
43	chr1:95582400-95583200	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr1:95582400-95583200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
45	chr1:95582400-95583400	Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr1:95582400-95583600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr1:95582400-95583600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:95582400-95583600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:95582400-95583600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:95582400-95583600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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