Variant report

Variant	rs552170706
Chromosome Location	chr1:95582135-95582136
allele	G/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	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	KAP1	chr1:95582130-95582932	U2OS	brain:	n/a	n/a
8	CTCF	chr1:95582093-95582748	HCT-116	colon:	n/a	n/a
9	IRF1	chr1:95581994-95582906	K562	blood:	n/a	chr1:95582836-95582850
10	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
11	MAX	chr1:95582131-95583198	A549	lung:	n/a	chr1:95582839-95582849
12	IRF1	chr1:95581984-95583100	K562	blood:	n/a	chr1:95582836-95582850
13	CTCF	chr1:95582103-95583749	SK-N-SH	brain:	n/a	chr1:95583111-95583124 chr1:95583109-95583127
14	TEAD4	chr1:95582079-95582688	K562	blood:	n/a	n/a
15	MAX	chr1:95582132-95583522	ECC-1	luminal epithelium:	n/a	chr1:95582839-95582849
16	TEAD4	chr1:95582128-95582741	HCT-116	colon:	n/a	n/a
17	CTCF	chr1:95582080-95582230	BE2_C	brain:	n/a	n/a
18	E2F4	chr1:95581135-95583029	MCF10A-Er-Src	breast:	n/a	chr1:95582289-95582298 chr1:95582642-95582651
19	ARID3A	chr1:95581929-95582635	HepG2	liver:	n/a	n/a
20	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
21	UBTF	chr1:95582060-95583903	K562	blood:	n/a	n/a
22	RCOR1	chr1:95581945-95582899	K562	blood:	n/a	n/a
23	POLR2A	chr1:95581058-95585752	PBDE	blood:	n/a	n/a
24	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
25	GATA1	chr1:95580973-95585387	PBDE	blood:	n/a	chr1:95581629-95581640 chr1:95583211-95583219 chr1:95582032-95582048 chr1:95584335-95584344 chr1:95584460-95584467
26	TEAD4	chr1:95582118-95582761	HepG2	liver:	n/a	n/a
27	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
TMEM56-RWDD3	TF binding region
ENSG00000231992	TF binding region
TMEM56	TF binding region
ENSG00000226026	Chromatin interaction
ENSG00000172339	Chromatin interaction
ENSG00000122481	Chromatin interaction
ENSG00000117528	Chromatin interaction
ENSG00000206679	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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