Variant report

Variant	rs183565685
Chromosome Location	chr1:92951700-92951701
allele	C/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	RUNX3	chr1:92949941-92952763	GM12878	blood:	n/a	chr1:92950835-92950850
2	SPI1	chr1:92951016-92952202	HL-60	blood:	n/a	n/a
3	SMC3	chr1:92951400-92951944	GM12878	blood:	n/a	chr1:92951538-92951548
4	POLR2A	chr1:92951503-92951860	MCF10A-Er-Src	breast:	n/a	n/a
5	HDAC2	chr1:92951283-92951962	MCF-7	breast:	n/a	chr1:92951656-92951670 chr1:92951657-92951671 chr1:92951659-92951673 chr1:92951658-92951672
6	BHLHE40	chr1:92950889-92951855	GM12878	blood:	n/a	chr1:92951281-92951297 chr1:92951364-92951380
7	POLR2A	chr1:92947404-92952793	GM19193	blood:	n/a	n/a
8	TAF1	chr1:92951301-92951961	GM12878	blood:	n/a	n/a
9	RELA	chr1:92950123-92952753	GM19193	blood:	n/a	n/a
10	MEF2C	chr1:92951267-92952016	GM12878	blood:	n/a	n/a
11	E2F4	chr1:92951461-92951700	MCF10A-Er-Src	breast:	n/a	n/a
12	CTCF	chr1:92951360-92951784	GM12892	blood:	n/a	chr1:92951365-92951378 chr1:92951524-92951537 chr1:92951530-92951539
13	POLR2A	chr1:92951012-92952743	HEK293	kidney:	n/a	n/a
14	POLR2A	chr1:92950859-92951905	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:92951539-92951867	GM12878	blood:	n/a	n/a
16	CHD1	chr1:92949844-92951923	GM12878	blood:	n/a	n/a
17	EP300	chr1:92950759-92951887	GM12878	blood:	n/a	chr1:92951165-92951181 chr1:92951445-92951461
18	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
19	CHD2	chr1:92951415-92951886	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr1:92951617-92951883	HepG2	liver:	n/a	n/a
21	RELA	chr1:92951312-92951947	GM19099	blood:	n/a	n/a
22	POLR2A	chr1:92950807-92951921	HCT-116	colon:	n/a	n/a
23	MXI1	chr1:92950052-92951962	GM12878	blood:	n/a	n/a
24	SPI1	chr1:92951551-92951817	GM12891	blood:	n/a	n/a
25	TAF1	chr1:92951634-92951816	GM12892	blood:	n/a	n/a
26	HDAC2	chr1:92951309-92951908	HepG2	liver:	n/a	chr1:92951656-92951670 chr1:92951657-92951671 chr1:92951659-92951673 chr1:92951658-92951672
27	ATF2	chr1:92951154-92951985	GM12878	blood:	n/a	n/a
28	MAZ	chr1:92950794-92951847	K562	blood:	n/a	chr1:92951472-92951482
29	POLR2A	chr1:92951465-92951980	GM12891	blood:	n/a	n/a
30	ZNF384	chr1:92951383-92951880	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:92948302-92953063	GM12878	blood:	n/a	n/a
32	CTBP2	chr1:92947650-92951849	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr1:92950462-92951930	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr1:92949981-92951931	GM12878	blood:	n/a	n/a
35	RELA	chr1:92950111-92951944	GM18951	blood:	n/a	n/a
36	RCOR1	chr1:92950677-92951891	GM12878	blood:	n/a	n/a
37	SUZ12	chr1:92945372-92953085	NT2-D1	testis:	n/a	n/a
38	YY1	chr1:92951318-92951738	GM12878	blood:	n/a	chr1:92951516-92951525 chr1:92951516-92951527
39	RAD21	chr1:92951350-92951837	H1-hESC	embryonic stem cell:	n/a	n/a
40	ZNF143	chr1:92949952-92951877	GM12878	blood:	n/a	chr1:92950430-92950448 chr1:92950448-92950458
41	ZNF263	chr1:92949056-92952006	HEK293-T-REx	kidney:	n/a	chr1:92949398-92949407 chr1:92951239-92951248 chr1:92949255-92949264 chr1:92949422-92949431
42	POLR2A	chr1:92949883-92952028	GM12878	blood:	n/a	n/a
43	POLR2A	chr1:92947650-92952772	GM18951	blood:	n/a	n/a
44	POLR2A	chr1:92950217-92951943	HepG2	liver:	n/a	n/a
45	ELF1	chr1:92947785-92952063	GM12878	blood:	n/a	chr1:92949334-92949343 chr1:92949903-92949915 chr1:92949809-92949821 chr1:92951584-92951596
46	ZEB1	chr1:92951266-92951772	GM12878	blood:	n/a	n/a
47	YY1	chr1:92951357-92951956	GM12892	blood:	n/a	chr1:92951516-92951525 chr1:92951516-92951527
48	RCOR1	chr1:92951360-92951749	HepG2	liver:	n/a	n/a
49	EP300	chr1:92951361-92951872	GM12878	blood:	n/a	chr1:92951445-92951461
50	CEBPB	chr1:92951691-92951898	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92951557..92952166-chr11:62608625..62609584,2	NB4	blood:

Variant related genes	Relation type
GFI1	TF binding region
ENSG00000133316	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:124 , 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	chr1:92947400-92952000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
10	chr1:92947400-92952600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:92947600-92952000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
12	chr1:92947600-92952000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
13	chr1:92947600-92952000	Flanking Bivalent TSS/Enh	Placenta	Placenta
14	chr1:92947600-92952200	Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr1:92947600-92952400	Active TSS	Thymus	Thymus
16	chr1:92947800-92952000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:92947800-92952000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
18	chr1:92947800-92952600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
19	chr1:92948000-92952000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:92948000-92952600	Bivalent/Poised TSS	Small Intestine	intestine
21	chr1:92948000-92952800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr1:92948200-92952000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
23	chr1:92948200-92952600	Bivalent Enhancer	Fetal Brain Male	brain
24	chr1:92948400-92952600	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr1:92948400-92953000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr1:92948600-92952200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:92948600-92952600	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr1:92948600-92952800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:92948800-92952000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:92949000-92953000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr1:92949200-92952000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:92949200-92953400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr1:92949600-92951800	Flanking Bivalent TSS/Enh	HMEC	breast
34	chr1:92949600-92952000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:92949800-92952000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
36	chr1:92949800-92952000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:92949800-92952000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:92949800-92952000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
39	chr1:92949800-92952000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
40	chr1:92949800-92952000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
41	chr1:92949800-92952400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:92950000-92951800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
43	chr1:92950000-92951800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:92950000-92952000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
45	chr1:92950000-92952000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:92950000-92952000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr1:92950000-92952000	Bivalent/Poised TSS	HepG2	liver
48	chr1:92950000-92952400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:92950200-92951800	Bivalent/Poised TSS	HSMMtube	muscle
50	chr1:92950200-92952000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast

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