Variant report

Variant	rs181702464
Chromosome Location	chr1:92952697-92952698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

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	RUNX3	chr1:92949941-92952763	GM12878	blood:	n/a	chr1:92950835-92950850
3	POLR2A	chr1:92952181-92952769	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:92947404-92952793	GM19193	blood:	n/a	n/a
5	HEY1	chr1:92952251-92952807	HepG2	liver:	n/a	chr1:92952520-92952535 chr1:92952515-92952530
6	YY1	chr1:92952278-92952709	GM12891	blood:	n/a	chr1:92952523-92952534 chr1:92952522-92952536 chr1:92952525-92952539
7	RELA	chr1:92950123-92952753	GM19193	blood:	n/a	n/a
8	POLR2A	chr1:92952293-92952764	HepG2	liver:	n/a	n/a
9	REST	chr1:92952164-92953259	HL-60	blood:	n/a	n/a
10	CTCF	chr1:92952318-92952767	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:92951012-92952743	HEK293	kidney:	n/a	n/a
12	RAD21	chr1:92952240-92952760	H1-hESC	embryonic stem cell:	n/a	n/a
13	HEY1	chr1:92952260-92952755	HepG2	liver:	n/a	chr1:92952520-92952535 chr1:92952515-92952530
14	POLR2A	chr1:92952289-92952709	HepG2	liver:	n/a	n/a
15	MAX	chr1:92952393-92952816	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr1:92952235-92952824	HepG2	liver:	n/a	n/a
17	BRCA1	chr1:92952643-92952700	HepG2	liver:	n/a	n/a
18	E2F6	chr1:92952366-92952730	A549	lung:	n/a	chr1:92952532-92952542 chr1:92952520-92952530
19	BHLHE40	chr1:92952253-92952770	GM12878	blood:	n/a	chr1:92952525-92952541
20	TBP	chr1:92952530-92952730	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:92948302-92953063	GM12878	blood:	n/a	n/a
22	MTA3	chr1:92952053-92952845	GM12878	blood:	n/a	n/a
23	TBP	chr1:92952333-92952740	HepG2	liver:	n/a	n/a
24	SUZ12	chr1:92945372-92953085	NT2-D1	testis:	n/a	n/a
25	E2F6	chr1:92952299-92952929	H1-hESC	embryonic stem cell:	n/a	chr1:92952532-92952542 chr1:92952520-92952530
26	RFX5	chr1:92952576-92952810	HepG2	liver:	n/a	n/a
27	POLR2A	chr1:92947650-92952772	GM18951	blood:	n/a	n/a
28	ZNF263	chr1:92952418-92953314	HEK293-T-REx	kidney:	n/a	n/a
29	MEF2A	chr1:92952065-92952701	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:92947824-92952778	GM18505	blood:	n/a	n/a
31	POLR2A	chr1:92952242-92952779	HepG2	liver:	n/a	n/a
32	ZEB1	chr1:92952242-92952715	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:92952262-92952734	HCT-116	colon:	n/a	n/a
34	ELF1	chr1:92952228-92952714	GM12878	blood:	n/a	chr1:92952526-92952538
35	BCL3	chr1:92952116-92952750	GM12878	blood:	n/a	n/a
36	MAX	chr1:92952260-92952934	HCT-116	colon:	n/a	n/a
37	MTA3	chr1:92949554-92952767	GM12878	blood:	n/a	n/a
38	MAX	chr1:92952279-92953118	NB4	blood:	n/a	n/a
39	POLR2A	chr1:92952138-92953068	HepG2	liver:	n/a	n/a
40	RAD21	chr1:92952403-92952722	HepG2	liver:	n/a	n/a
41	FOXM1	chr1:92952150-92952796	GM12878	blood:	n/a	n/a
42	E2F6	chr1:92952283-92952824	A549	lung:	n/a	chr1:92952532-92952542 chr1:92952520-92952530
43	CTCF	chr1:92952680-92952830	HAc	cerebellar:	n/a	n/a
44	CHD1	chr1:92952239-92952713	GM12878	blood:	n/a	chr1:92952639-92952649
45	SUZ12	chr1:92952236-92952731	H1-hESC	embryonic stem cell:	n/a	n/a
46	EP300	chr1:92952150-92952918	GM12878	blood:	n/a	chr1:92952426-92952442
47	POLR2A	chr1:92952171-92952759	HepG2	liver:	n/a	n/a
48	POLR2A	chr1:92943372-92953100	NB4	blood:	n/a	n/a
49	MAX	chr1:92952382-92952769	GM12878	blood:	n/a	n/a
50	POLR2A	chr1:92937389-92953582	HL-60	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:92952655-92952705	BE2_C	brain:	n/a
2	chr1:92952655-92952705	PrEC	prostate:	n/a
3	chr1:92952655-92952705	SKMC	muscle:	n/a
4	chr1:92952655-92952705	NH-A	brain:	n/a
5	chr1:92952655-92952705	HRCEpiC	kidney:	n/a
6	chr1:92952655-92952705	HEEpiC	esophagus:	n/a
7	chr1:92952655-92952705	AG09319	gingival:	n/a
8	chr1:92952655-92952705	GM12878	blood:	n/a
9	chr1:92952655-92952705	H1-hESC	embryonic stem cell:	embryo
10	chr1:92952655-92952705	SK-N-SH_RA	brain:	n/a
11	chr1:92952655-92952705	AG04449	skin:	fetal
12	chr1:92952655-92952705	PFSK-1	brain:	n/a
13	chr1:92952655-92952705	BJ	skin:	n/a
14	chr1:92952655-92952705	Hela-S3	cervix:	n/a
15	chr1:92952655-92952705	PANC-1	pancreas:	n/a
16	chr1:92952655-92952705	HUVEC	blood vessel:	n/a
17	chr1:92952655-92952705	GM06990	blood:	n/a
18	chr1:92952655-92952705	K562	blood:	n/a
19	chr1:92952655-92952705	ProgFib	skin:	n/a
20	chr1:92952655-92952705	MCF-7	breast:	n/a
21	chr1:92952655-92952705	NHDF-neo	bronchial:	n/a
22	chr1:92952655-92952705	ovcar-3	ovarian:	n/a
23	chr1:92952655-92952705	HL-60	blood:	n/a
24	chr1:92952655-92952705	MCF10A-Er-Src	breast:	n/a
25	chr1:92952655-92952705	HCPEpiC	choroid plexus:	n/a
26	chr1:92952655-92952705	HEK293	kidney:	embryo
27	chr1:92952655-92952705	CMK	blood:	n/a
28	chr1:92952655-92952705	T-47D	breast:	n/a
29	chr1:92952655-92952705	Caco-2	colon:	n/a
30	chr1:92952655-92952705	HRE	kidney:	n/a
31	chr1:92952655-92952705	GM19239	blood:	n/a
32	chr1:92952655-92952705	HPAEpiC	pulmonary alveolar:	n/a
33	chr1:92952655-92952705	HAEpiC	amniotic membrane:	n/a
34	chr1:92952655-92952705	GM12891	blood:	n/a
35	chr1:92952655-92952705	NB4	blood:	n/a
36	chr1:92952655-92952705	HRPEpiC	eye:	n/a
37	chr1:92952655-92952705	HCM	heart:	n/a
38	chr1:92952655-92952705	GM12892	blood:	n/a
39	chr1:92952655-92952705	LNCaP	prostate:	n/a
40	chr1:92952655-92952705	RPTEC	kidney:	n/a
41	chr1:92952655-92952705	IMR90	lung:	fetal
42	chr1:92952655-92952705	Jurkat	blood:	n/a
43	chr1:92952655-92952705	Hepatocyte	liver:	n/a
44	chr1:92952655-92952705	AG09309	skin:	n/a
45	chr1:92952655-92952705	HCF	heart:	n/a
46	chr1:92952655-92952705	AG10803	skin:	n/a
47	chr1:92952655-92952705	U87	brain:	n/a
48	chr1:92952655-92952705	ECC-1	luminal epithelium:	n/a
49	chr1:92952655-92952705	HepG2	liver:	n/a
50	chr1:92952655-92952705	HIPEpiC	eye:	n/a

(count:1 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
GFI1	TF binding region
GFI1	CpG island
ENSG00000176410	Chromatin interaction
ENSG00000071462	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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92945600-92952800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr1:92948000-92952800	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr1:92948400-92953000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr1:92948600-92952800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:92949000-92953000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:92949200-92953400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr1:92950600-92952800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:92950600-92953000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr1:92950600-92953000	Active TSS	Primary T cells from cord blood	blood
10	chr1:92950800-92952800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:92950800-92952800	Active TSS	Right Atrium	heart
12	chr1:92951000-92952800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr1:92951000-92952800	Bivalent/Poised TSS	A549	lung
14	chr1:92951000-92952800	Bivalent/Poised TSS	NHEK	skin
15	chr1:92951200-92952800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:92951400-92952800	Active TSS	Pancreas	Pancrea
17	chr1:92951400-92952800	Active TSS	Rectal Smooth Muscle	rectum
18	chr1:92951800-92952800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:92951800-92952800	Bivalent/Poised TSS	NH-A	brain
20	chr1:92952000-92952800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:92952000-92952800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:92952000-92952800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
23	chr1:92952000-92952800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
24	chr1:92952000-92952800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
25	chr1:92952000-92953000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:92952000-92953000	Enhancers	Dnd41	blood
27	chr1:92952200-92952800	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr1:92952200-92952800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
29	chr1:92952200-92952800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:92952200-92952800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:92952200-92952800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
32	chr1:92952200-92954000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr1:92952400-92952800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
34	chr1:92952400-92952800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:92952400-92952800	Enhancers	Primary B cells from peripheral blood	blood
36	chr1:92952400-92952800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:92952400-92952800	Flanking Bivalent TSS/Enh	Liver	Liver
38	chr1:92952400-92952800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr1:92952400-92952800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
40	chr1:92952400-92952800	Bivalent Enhancer	Placenta	Placenta
41	chr1:92952400-92952800	Bivalent Enhancer	Fetal Stomach	stomach
42	chr1:92952400-92952800	Flanking Active TSS	Right Ventricle	heart
43	chr1:92952400-92953000	Flanking Active TSS	Thymus	Thymus
44	chr1:92952600-92952800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
45	chr1:92952600-92952800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:92952600-92952800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:92952600-92952800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:92952600-92952800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
49	chr1:92952600-92952800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:92952600-92952800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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