Variant report

Variant	rs553361920
Chromosome Location	chr1:95582141-95582142
allele	-/TT
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	REST	chr1:95581938-95583315	H1-neurons	neurons:	n/a	chr1:95583217-95583230 chr1:95582375-95582395 chr1:95583161-95583174 chr1:95582615-95582635 chr1:95582615-95582635
2	CTCF	chr1:95582105-95583015	HCT-116	colon:	n/a	n/a
3	MXI1	chr1:95582035-95584169	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr1:95582010-95582197	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr1:95582105-95583117	ECC-1	luminal epithelium:	n/a	chr1:95582839-95582849
6	CTCF	chr1:95581805-95583042	A549	lung:	n/a	n/a
7	BACH1	chr1:95582140-95583091	H1-hESC	embryonic stem cell:	n/a	n/a
8	KAP1	chr1:95582130-95582932	U2OS	brain:	n/a	n/a
9	CTCF	chr1:95582093-95582748	HCT-116	colon:	n/a	n/a
10	IRF1	chr1:95581994-95582906	K562	blood:	n/a	chr1:95582836-95582850
11	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
12	MAX	chr1:95582131-95583198	A549	lung:	n/a	chr1:95582839-95582849
13	IRF1	chr1:95581984-95583100	K562	blood:	n/a	chr1:95582836-95582850
14	CTCF	chr1:95582103-95583749	SK-N-SH	brain:	n/a	chr1:95583111-95583124 chr1:95583109-95583127
15	TEAD4	chr1:95582079-95582688	K562	blood:	n/a	n/a
16	MAX	chr1:95582132-95583522	ECC-1	luminal epithelium:	n/a	chr1:95582839-95582849
17	TEAD4	chr1:95582128-95582741	HCT-116	colon:	n/a	n/a
18	CTCF	chr1:95582080-95582230	BE2_C	brain:	n/a	n/a
19	E2F4	chr1:95581135-95583029	MCF10A-Er-Src	breast:	n/a	chr1:95582289-95582298 chr1:95582642-95582651
20	ARID3A	chr1:95581929-95582635	HepG2	liver:	n/a	n/a
21	EGR1	chr1:95581997-95583256	HCT-116	colon:	n/a	chr1:95582633-95582655 chr1:95582640-95582650 chr1:95582637-95582650 chr1:95582639-95582649 chr1:95582638-95582649 chr1:95582640-95582649 chr1:95583132-95583154 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
22	TCF12	chr1:95582136-95582848	A549	lung:	n/a	chr1:95582442-95582452
23	UBTF	chr1:95582060-95583903	K562	blood:	n/a	n/a
24	RCOR1	chr1:95581945-95582899	K562	blood:	n/a	n/a
25	KAP1	chr1:95582141-95583059	HEK293	kidney:	n/a	n/a
26	POLR2A	chr1:95581058-95585752	PBDE	blood:	n/a	n/a
27	SP1	chr1:95582103-95583017	A549	lung:	n/a	chr1:95582643-95582652 chr1:95582903-95582910 chr1:95582839-95582849 chr1:95582839-95582848 chr1:95582838-95582850 chr1:95582838-95582850 chr1:95582839-95582849 chr1:95582641-95582653 chr1:95582641-95582653 chr1:95582642-95582651 chr1:95582840-95582849
28	GATA1	chr1:95580973-95585387	PBDE	blood:	n/a	chr1:95581629-95581640 chr1:95583211-95583219 chr1:95582032-95582048 chr1:95584335-95584344 chr1:95584460-95584467
29	RAD21	chr1:95582140-95582652	A549	lung:	n/a	n/a
30	TEAD4	chr1:95582118-95582761	HepG2	liver:	n/a	n/a
31	MAX	chr1:95582078-95583230	HCT-116	colon:	n/a	chr1:95582839-95582849

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	chr1:95537109..95538703-chr1:95581704..95583330,2	MCF-7	breast:
4	chr1:95581745..95584156-chr1:95699309..95702187,2	MCF-7	breast:
5	chr1:95580754..95585035-chr1:95586074..95591340,6	K562	blood:
6	chr1:95579611..95582560-chr1:95641374..95643709,2	K562	blood:
7	chr1:95537896..95540428-chr1:95580653..95582591,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231992	TF binding region
TMEM56	TF binding region
TMEM56-RWDD3	TF binding region
ENSG00000206679	Chromatin interaction
ENSG00000172339	Chromatin interaction
ENSG00000122481	Chromatin interaction
ENSG00000117528	Chromatin interaction
ENSG00000226026	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95581000-95582200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr1:95581000-95582400	Flanking Active TSS	K562	blood
3	chr1:95581200-95582200	Enhancers	Brain Anterior Caudate	brain
4	chr1:95581200-95582200	Enhancers	Fetal Intestine Large	intestine
5	chr1:95581200-95582200	Enhancers	Fetal Intestine Small	intestine
6	chr1:95581600-95582200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:95581600-95582200	Enhancers	Placenta	Placenta
8	chr1:95581600-95582400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:95581600-95582400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
10	chr1:95581600-95582400	Weak transcription	Esophagus	oesophagus
11	chr1:95581600-95582400	Flanking Active TSS	HepG2	liver
12	chr1:95581600-95582800	Flanking Active TSS	Liver	Liver
13	chr1:95581800-95582200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:95581800-95582200	Flanking Active TSS	A549	lung
15	chr1:95582000-95582200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr1:95582000-95582200	Enhancers	Adipose Nuclei	Adipose
17	chr1:95582000-95582200	Enhancers	Brain Hippocampus Middle	brain
18	chr1:95582000-95582200	Enhancers	Brain Substantia Nigra	brain
19	chr1:95582000-95582200	Enhancers	Colon Smooth Muscle	Colon
20	chr1:95582000-95582200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:95582000-95582200	Enhancers	Stomach Mucosa	stomach
22	chr1:95582000-95582400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr1:95582000-95582400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr1:95582000-95582400	Flanking Active TSS	Fetal Heart	heart
25	chr1:95582000-95582400	Flanking Active TSS	Hela-S3	cervix
26	chr1:95582000-95582400	Enhancers	HMEC	breast
27	chr1:95582000-95583400	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr1:95582000-95583600	Active TSS	Stomach Smooth Muscle	stomach
29	chr1:95582000-95584200	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr1:95582000-95584800	Active TSS	Rectal Mucosa Donor 29	rectum

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