Variant report

Variant	rs187351625
Chromosome Location	chr1:92952849-92952850
allele	A/C
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	RUNX3	chr1:92952087-92953089	GM12878	blood:	n/a	n/a
2	REST	chr1:92952164-92953259	HL-60	blood:	n/a	n/a
3	POLR2A	chr1:92948302-92953063	GM12878	blood:	n/a	n/a
4	SUZ12	chr1:92945372-92953085	NT2-D1	testis:	n/a	n/a
5	E2F6	chr1:92952299-92952929	H1-hESC	embryonic stem cell:	n/a	chr1:92952532-92952542 chr1:92952520-92952530
6	ZNF263	chr1:92952418-92953314	HEK293-T-REx	kidney:	n/a	n/a
7	MAX	chr1:92952260-92952934	HCT-116	colon:	n/a	n/a
8	MAX	chr1:92952279-92953118	NB4	blood:	n/a	n/a
9	POLR2A	chr1:92952138-92953068	HepG2	liver:	n/a	n/a
10	EP300	chr1:92952150-92952918	GM12878	blood:	n/a	chr1:92952426-92952442
11	POLR2A	chr1:92943372-92953100	NB4	blood:	n/a	n/a
12	POLR2A	chr1:92937389-92953582	HL-60	blood:	n/a	n/a
13	POLR2A	chr1:92948007-92953125	GM12891	blood:	n/a	n/a
14	MYC	chr1:92952263-92953140	NB4	blood:	n/a	n/a
15	MAX	chr1:92952389-92953058	HepG2	liver:	n/a	n/a
16	CHD2	chr1:92952284-92952882	GM12878	blood:	n/a	chr1:92952639-92952649
17	POLR2A	chr1:92947848-92952998	GM15510	blood:	n/a	n/a
18	POLR2A	chr1:92943291-92953187	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92952059..92953057-chr7:73097780..73098366,2	NB4	blood:

Variant related genes	Relation type
GFI1	TF binding region
ENSG00000071462	Chromatin interaction
ENSG00000176410	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523354	chr1:92931263-93064823	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv3421594	chr1:92950889-92953737	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92948400-92953000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
2	chr1:92949000-92953000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:92949200-92953400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr1:92950600-92953000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr1:92950600-92953000	Active TSS	Primary T cells from cord blood	blood
6	chr1:92952000-92953000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:92952000-92953000	Enhancers	Dnd41	blood
8	chr1:92952200-92954000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr1:92952400-92953000	Flanking Active TSS	Thymus	Thymus
10	chr1:92952600-92953000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr1:92952600-92953000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
12	chr1:92952600-92953000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
13	chr1:92952600-92953000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
14	chr1:92952600-92953200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr1:92952600-92953400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:92952600-92953400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr1:92952600-92954200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr1:92952800-92953000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
19	chr1:92952800-92953000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
20	chr1:92952800-92953000	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:92952800-92953000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:92952800-92953000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:92952800-92953000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
24	chr1:92952800-92953000	Flanking Active TSS	GM12878-XiMat	blood
25	chr1:92952800-92953200	Enhancers	HepG2	liver
26	chr1:92952800-92953400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr1:92952800-92953400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr1:92952800-92953600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:92952800-92953800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:92952800-92954200	Enhancers	Fetal Thymus	thymus
31	chr1:92952800-92955000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr1:92952800-92991400	Weak transcription	Pancreas	Pancrea

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