Variant report

Variant	rs564022490
Chromosome Location	chr1:92952213-92952214
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 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	POU2F2	chr1:92952173-92952687	GM12891	blood:	n/a	n/a
4	POLR2A	chr1:92952109-92952607	GM12891	blood:	n/a	n/a
5	EGR1	chr1:92952049-92952668	GM12878	blood:	n/a	chr1:92952520-92952530 chr1:92952081-92952091 chr1:92952099-92952109 chr1:92952086-92952099 chr1:92952076-92952091 chr1:92952077-92952090 chr1:92952080-92952090 chr1:92952517-92952530
6	POLR2A	chr1:92952181-92952769	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:92947404-92952793	GM19193	blood:	n/a	n/a
8	RELA	chr1:92950123-92952753	GM19193	blood:	n/a	n/a
9	REST	chr1:92952164-92953259	HL-60	blood:	n/a	n/a
10	POLR2A	chr1:92951012-92952743	HEK293	kidney:	n/a	n/a
11	NFYB	chr1:92952175-92952482	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:92948302-92953063	GM12878	blood:	n/a	n/a
13	MTA3	chr1:92952053-92952845	GM12878	blood:	n/a	n/a
14	YY1	chr1:92952184-92952680	HepG2	liver:	n/a	chr1:92952523-92952534 chr1:92952522-92952536 chr1:92952525-92952539
15	SUZ12	chr1:92945372-92953085	NT2-D1	testis:	n/a	n/a
16	POLR2A	chr1:92951935-92952235	GM12878	blood:	n/a	n/a
17	ZNF143	chr1:92952205-92952688	GM12878	blood:	n/a	chr1:92952526-92952536
18	POLR2A	chr1:92947650-92952772	GM18951	blood:	n/a	n/a
19	TBL1XR1	chr1:92952170-92952663	GM12878	blood:	n/a	n/a
20	MEF2A	chr1:92952065-92952701	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:92947824-92952778	GM18505	blood:	n/a	n/a
22	ELF1	chr1:92952095-92952691	GM12878	blood:	n/a	chr1:92952526-92952538
23	BCL11A	chr1:92952145-92952478	GM12878	blood:	n/a	n/a
24	MEF2A	chr1:92952085-92952638	GM12878	blood:	n/a	n/a
25	BCL3	chr1:92952116-92952750	GM12878	blood:	n/a	n/a
26	MTA3	chr1:92949554-92952767	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:92952138-92953068	HepG2	liver:	n/a	n/a
28	FOXM1	chr1:92952150-92952796	GM12878	blood:	n/a	n/a
29	EP300	chr1:92952150-92952918	GM12878	blood:	n/a	chr1:92952426-92952442
30	POLR2A	chr1:92952171-92952759	HepG2	liver:	n/a	n/a
31	NFATC1	chr1:92952036-92952569	GM12878	blood:	n/a	n/a
32	POLR2A	chr1:92952096-92952574	GM12891	blood:	n/a	n/a
33	BCL11A	chr1:92952091-92952246	GM12878	blood:	n/a	chr1:92952093-92952106
34	FOXM1	chr1:92952062-92952571	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:92952131-92952621	GM12878	blood:	n/a	n/a
36	POLR2A	chr1:92943372-92953100	NB4	blood:	n/a	n/a
37	MAZ	chr1:92949233-92952685	GM12878	blood:	n/a	chr1:92952080-92952090 chr1:92949942-92949951 chr1:92951472-92951482 chr1:92952098-92952108
38	POLR2A	chr1:92937389-92953582	HL-60	blood:	n/a	n/a
39	POLR2A	chr1:92948007-92953125	GM12891	blood:	n/a	n/a
40	POLR2A	chr1:92952181-92952625	GM12891	blood:	n/a	n/a
41	MEF2C	chr1:92952091-92952703	GM12878	blood:	n/a	n/a
42	EBF1	chr1:92952093-92952760	GM12878	blood:	n/a	n/a
43	POLR2A	chr1:92949958-92952746	GM10847	blood:	n/a	n/a
44	ATF2	chr1:92952062-92952715	GM12878	blood:	n/a	n/a
45	POLR2A	chr1:92947823-92952727	GM18526	blood:	n/a	n/a
46	POLR2A	chr1:92947848-92952998	GM15510	blood:	n/a	n/a
47	POLR2A	chr1:92952104-92952753	GM12892	blood:	n/a	n/a
48	POLR2A	chr1:92943291-92953187	HL-60	blood:	n/a	n/a
49	EP300	chr1:92952131-92952789	GM12878	blood:	n/a	chr1:92952426-92952442
50	POLR2A	chr1:92952098-92952716	GM12891	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:92952189-92952239	AG09309	skin:	n/a
2	chr1:92952196-92952246	HRE	kidney:	n/a
3	chr1:92952189-92952239	HEK293	kidney:	embryo
4	chr1:92952189-92952239	GM19239	blood:	n/a
5	chr1:92952192-92952242	Jurkat	blood:	n/a
6	chr1:92952196-92952246	ECC-1	luminal epithelium:	n/a
7	chr1:92952196-92952246	AG10803	skin:	n/a
8	chr1:92952192-92952242	NH-A	brain:	n/a
9	chr1:92952189-92952239	AoSMC	blood vessel:	n/a
10	chr1:92952192-92952242	GM12878	blood:	n/a
11	chr1:92952189-92952239	A549	lung:	n/a
12	chr1:92952189-92952239	PrEC	prostate:	n/a
13	chr1:92952192-92952242	HL-60	blood:	n/a
14	chr1:92952192-92952242	Hela-S3	cervix:	n/a
15	chr1:92952192-92952242	ovcar-3	ovarian:	n/a
16	chr1:92952189-92952239	CMK	blood:	n/a
17	chr1:92952189-92952239	HRCEpiC	kidney:	n/a
18	chr1:92952189-92952239	SK-N-MC	brain:	n/a
19	chr1:92952196-92952246	BE2_C	brain:	n/a
20	chr1:92952192-92952242	Caco-2	colon:	n/a
21	chr1:92952189-92952239	NHDF-neo	bronchial:	n/a
22	chr1:92952196-92952246	PANC-1	pancreas:	n/a
23	chr1:92952192-92952242	AG09319	gingival:	n/a
24	chr1:92952189-92952239	K562	blood:	n/a
25	chr1:92952189-92952239	ECC-1	luminal epithelium:	n/a
26	chr1:92952189-92952239	ovcar-3	ovarian:	n/a
27	chr1:92952192-92952242	MCF-7	breast:	n/a
28	chr1:92952192-92952242	AG10803	skin:	n/a
29	chr1:92952196-92952246	IMR90	lung:	fetal
30	chr1:92952196-92952246	HAEpiC	amniotic membrane:	n/a
31	chr1:92952196-92952246	RPTEC	kidney:	n/a
32	chr1:92952192-92952242	IMR90	lung:	fetal
33	chr1:92952192-92952242	HEEpiC	esophagus:	n/a
34	chr1:92952192-92952242	AG09309	skin:	n/a
35	chr1:92952196-92952246	Jurkat	blood:	n/a
36	chr1:92952192-92952242	A549	lung:	n/a
37	chr1:92952189-92952239	GM12892	blood:	n/a
38	chr1:92952192-92952242	HCPEpiC	choroid plexus:	n/a
39	chr1:92952189-92952239	AG09319	gingival:	n/a
40	chr1:92952192-92952242	PFSK-1	brain:	n/a
41	chr1:92952189-92952239	HIPEpiC	eye:	n/a
42	chr1:92952196-92952246	HL-60	blood:	n/a
43	chr1:92952189-92952239	NT2-D1	testis:	n/a
44	chr1:92952189-92952239	NHBE	bronchial:	n/a
45	chr1:92952196-92952246	AG09309	skin:	n/a
46	chr1:92952196-92952246	A549	lung:	n/a
47	chr1:92952196-92952246	MCF-7	breast:	n/a
48	chr1:92952189-92952239	NH-A	brain:	n/a
49	chr1:92952196-92952246	MCF10A-Er-Src	breast:	n/a
50	chr1:92952189-92952239	HCT-116	colon:	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
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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92945600-92952600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:92945600-92952800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr1:92947400-92952600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:92947600-92952400	Active TSS	Thymus	Thymus
5	chr1:92947800-92952600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:92948000-92952600	Bivalent/Poised TSS	Small Intestine	intestine
7	chr1:92948000-92952800	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr1:92948200-92952600	Bivalent Enhancer	Fetal Brain Male	brain
9	chr1:92948400-92952600	Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr1:92948400-92953000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr1:92948600-92952600	Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr1:92948600-92952800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:92949000-92953000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr1:92949200-92953400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr1:92949800-92952400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:92950000-92952400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:92950600-92952400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:92950600-92952400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:92950600-92952600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:92950600-92952800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:92950600-92953000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr1:92950600-92953000	Active TSS	Primary T cells from cord blood	blood
23	chr1:92950800-92952400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr1:92950800-92952600	Active TSS	Primary T cells fromperipheralblood	blood
25	chr1:92950800-92952600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:92950800-92952600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
27	chr1:92950800-92952800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:92950800-92952800	Active TSS	Right Atrium	heart
29	chr1:92951000-92952400	Bivalent/Poised TSS	Esophagus	oesophagus
30	chr1:92951000-92952600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:92951000-92952600	Active TSS	Primary monocytes fromperipheralblood	blood
32	chr1:92951000-92952600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
33	chr1:92951000-92952600	Active TSS	Fetal Thymus	thymus
34	chr1:92951000-92952600	Active TSS	Ovary	ovary
35	chr1:92951000-92952800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr1:92951000-92952800	Bivalent/Poised TSS	A549	lung
37	chr1:92951000-92952800	Bivalent/Poised TSS	NHEK	skin
38	chr1:92951200-92952600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:92951200-92952600	Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr1:92951200-92952800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr1:92951400-92952400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:92951400-92952400	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr1:92951400-92952600	Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr1:92951400-92952600	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr1:92951400-92952800	Active TSS	Pancreas	Pancrea
46	chr1:92951400-92952800	Active TSS	Rectal Smooth Muscle	rectum
47	chr1:92951600-92952400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:92951600-92952600	Active TSS	Aorta	Aorta
49	chr1:92951600-92952600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
50	chr1:92951600-92952600	Active TSS	HSMM	muscle

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