Variant report

Variant	rs568352138
Chromosome Location	chr1:92951485-92951486
allele	A/G
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	POLR2A	chr1:92951252-92951656	HepG2	liver:	n/a	n/a
2	RUNX3	chr1:92949941-92952763	GM12878	blood:	n/a	chr1:92950835-92950850
3	CTCF	chr1:92951441-92951639	Spleen_OC	spleen:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
4	CTCF	chr1:92951464-92951568	SK-N-SH_RA	brain:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
5	CTCF	chr1:92951440-92951590	Hela-S3	cervix:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
6	SPI1	chr1:92951016-92952202	HL-60	blood:	n/a	n/a
7	MAX	chr1:92949938-92951680	ECC-1	luminal epithelium:	n/a	chr1:92949942-92949951 chr1:92951472-92951482
8	RAD21	chr1:92951341-92951637	H1-hESC	embryonic stem cell:	n/a	n/a
9	SMC3	chr1:92951400-92951944	GM12878	blood:	n/a	chr1:92951538-92951548
10	CTCFL	chr1:92951447-92951599	K562	blood:	n/a	chr1:92951475-92951484
11	SIN3AK20	chr1:92951443-92951593	HepG2	liver:	n/a	n/a
12	EGR1	chr1:92951301-92951620	GM12878	blood:	n/a	chr1:92951485-92951498 chr1:92951523-92951533 chr1:92951486-92951495 chr1:92951485-92951498 chr1:92951523-92951536 chr1:92951480-92951502 chr1:92951485-92951498
13	CTCF	chr1:92951480-92951630	NHEK	skin:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
14	HDAC2	chr1:92951283-92951962	MCF-7	breast:	n/a	chr1:92951656-92951670 chr1:92951657-92951671 chr1:92951659-92951673 chr1:92951658-92951672
15	CTCF	chr1:92951421-92951645	H1-hESC	embryonic stem cell:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
16	MAX	chr1:92951106-92951673	HepG2	liver:	n/a	chr1:92951472-92951482
17	EGR1	chr1:92950935-92951654	GM12878	blood:	n/a	chr1:92951290-92951300 chr1:92951485-92951498 chr1:92951523-92951533 chr1:92951486-92951495 chr1:92951485-92951498 chr1:92951074-92951084 chr1:92951286-92951300 chr1:92951523-92951536 chr1:92950956-92950969 chr1:92951480-92951502 chr1:92951485-92951498
18	ARID3A	chr1:92951459-92951649	HepG2	liver:	n/a	n/a
19	BHLHE40	chr1:92950889-92951855	GM12878	blood:	n/a	chr1:92951281-92951297 chr1:92951364-92951380
20	POLR2A	chr1:92947404-92952793	GM19193	blood:	n/a	n/a
21	POLR2A	chr1:92951259-92951664	HepG2	liver:	n/a	n/a
22	TAF1	chr1:92951301-92951961	GM12878	blood:	n/a	n/a
23	RELA	chr1:92950123-92952753	GM19193	blood:	n/a	n/a
24	MEF2C	chr1:92951267-92952016	GM12878	blood:	n/a	n/a
25	E2F4	chr1:92951461-92951700	MCF10A-Er-Src	breast:	n/a	n/a
26	CTCF	chr1:92951360-92951784	GM12892	blood:	n/a	chr1:92951365-92951378 chr1:92951524-92951537 chr1:92951530-92951539
27	POLR2A	chr1:92951012-92952743	HEK293	kidney:	n/a	n/a
28	CTCF	chr1:92951460-92951610	GM12866	blood:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
29	CTCF	chr1:92951440-92951590	GM12868	blood:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
30	CTCF	chr1:92951420-92951648	MCF-7	breast:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
31	CTCF	chr1:92951460-92951610	K562	blood:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
32	POLR2A	chr1:92950859-92951905	GM12878	blood:	n/a	n/a
33	JUND	chr1:92951441-92951641	K562	blood:	n/a	n/a
34	ELK1	chr1:92951428-92951554	Hela-S3	cervix:	n/a	n/a
35	YY1	chr1:92951420-92951586	HCT-116	colon:	n/a	chr1:92951516-92951525 chr1:92951516-92951527
36	POLR2A	chr1:92951158-92951626	GM12892	blood:	n/a	n/a
37	CTCF	chr1:92951405-92951658	GM19239	blood:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
38	CHD1	chr1:92949844-92951923	GM12878	blood:	n/a	n/a
39	CTCF	chr1:92951480-92951630	HUVEC	blood vessel:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
40	EP300	chr1:92950759-92951887	GM12878	blood:	n/a	chr1:92951165-92951181 chr1:92951445-92951461
41	MAX	chr1:92951128-92951624	K562	blood:	n/a	chr1:92951472-92951482
42	EGR1	chr1:92951066-92951784	ECC-1	luminal epithelium:	n/a	chr1:92951290-92951300 chr1:92951485-92951498 chr1:92951523-92951533 chr1:92951486-92951495 chr1:92951485-92951498 chr1:92951074-92951084 chr1:92951286-92951300 chr1:92951523-92951536 chr1:92951709-92951718 chr1:92951480-92951502 chr1:92951772-92951782 chr1:92951485-92951498
43	RCOR1	chr1:92950969-92951544	K562	blood:	n/a	n/a
44	CHD2	chr1:92951415-92951886	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr1:92951307-92951590	Hela-S3	cervix:	n/a	n/a
46	RELA	chr1:92951312-92951947	GM19099	blood:	n/a	n/a
47	EGR1	chr1:92951078-92951668	K562	blood:	n/a	chr1:92951290-92951300 chr1:92951485-92951498 chr1:92951523-92951533 chr1:92951486-92951495 chr1:92951485-92951498 chr1:92951286-92951300 chr1:92951523-92951536 chr1:92951480-92951502 chr1:92951485-92951498
48	POLR2A	chr1:92950807-92951921	HCT-116	colon:	n/a	n/a
49	CTCF	chr1:92951440-92951590	GM12878	blood:	n/a	chr1:92951524-92951537 chr1:92951530-92951539
50	CTCF	chr1:92951470-92951640	LNCaP	prostate:	n/a	chr1:92951524-92951537 chr1:92951530-92951539

Variant related genes	Relation type
GFI1	TF binding region

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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92945600-92952200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:92945600-92952600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:92945600-92952800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr1:92945800-92951800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:92946000-92952000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:92946600-92952000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
7	chr1:92947000-92951800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
8	chr1:92947000-92952000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
9	chr1:92947200-92951600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:92947400-92952000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
11	chr1:92947400-92952600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr1:92947600-92952000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
13	chr1:92947600-92952000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
14	chr1:92947600-92952000	Flanking Bivalent TSS/Enh	Placenta	Placenta
15	chr1:92947600-92952200	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr1:92947600-92952400	Active TSS	Thymus	Thymus
17	chr1:92947800-92951600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:92947800-92952000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:92947800-92952000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
20	chr1:92947800-92952600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
21	chr1:92948000-92952000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:92948000-92952600	Bivalent/Poised TSS	Small Intestine	intestine
23	chr1:92948000-92952800	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr1:92948200-92952000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
25	chr1:92948200-92952600	Bivalent Enhancer	Fetal Brain Male	brain
26	chr1:92948400-92952600	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr1:92948400-92953000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr1:92948600-92952200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:92948600-92952600	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr1:92948600-92952800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:92948800-92952000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:92949000-92953000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr1:92949200-92952000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:92949200-92953400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr1:92949600-92951800	Flanking Bivalent TSS/Enh	HMEC	breast
36	chr1:92949600-92952000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:92949800-92951600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
38	chr1:92949800-92951600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
39	chr1:92949800-92951600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
40	chr1:92949800-92951600	Flanking Active TSS	Spleen	Spleen
41	chr1:92949800-92952000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr1:92949800-92952000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:92949800-92952000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:92949800-92952000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
45	chr1:92949800-92952000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr1:92949800-92952000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
47	chr1:92949800-92952400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:92950000-92951800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
49	chr1:92950000-92951800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:92950000-92952000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain

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