Variant report

Variant	rs575253271
Chromosome Location	chr1:92951984-92951985
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	RUNX3	chr1:92949941-92952763	GM12878	blood:	n/a	chr1:92950835-92950850
2	SPI1	chr1:92951016-92952202	HL-60	blood:	n/a	n/a
3	POLR2A	chr1:92947404-92952793	GM19193	blood:	n/a	n/a
4	RELA	chr1:92950123-92952753	GM19193	blood:	n/a	n/a
5	MEF2C	chr1:92951267-92952016	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:92951012-92952743	HEK293	kidney:	n/a	n/a
7	ATF2	chr1:92951154-92951985	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:92948302-92953063	GM12878	blood:	n/a	n/a
9	SUZ12	chr1:92945372-92953085	NT2-D1	testis:	n/a	n/a
10	POLR2A	chr1:92951935-92952235	GM12878	blood:	n/a	n/a
11	ZNF263	chr1:92949056-92952006	HEK293-T-REx	kidney:	n/a	chr1:92949398-92949407 chr1:92951239-92951248 chr1:92949255-92949264 chr1:92949422-92949431
12	POLR2A	chr1:92949883-92952028	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:92947650-92952772	GM18951	blood:	n/a	n/a
14	ELF1	chr1:92947785-92952063	GM12878	blood:	n/a	chr1:92949334-92949343 chr1:92949903-92949915 chr1:92949809-92949821 chr1:92951584-92951596
15	STAT5A	chr1:92951243-92952034	GM12878	blood:	n/a	n/a
16	RUNX3	chr1:92950618-92952049	GM12878	blood:	n/a	chr1:92950835-92950850
17	EGR1	chr1:92950032-92952031	HCT-116	colon:	n/a	chr1:92951290-92951300 chr1:92951485-92951498 chr1:92950289-92950303 chr1:92951523-92951533 chr1:92951486-92951495 chr1:92951485-92951498 chr1:92951074-92951084 chr1:92951286-92951300 chr1:92951523-92951536 chr1:92950956-92950969 chr1:92951709-92951718 chr1:92951480-92951502 chr1:92951772-92951782 chr1:92951485-92951498
18	FOXM1	chr1:92951278-92952042	GM12878	blood:	n/a	chr1:92952005-92952013
19	POLR2A	chr1:92947824-92952778	GM18505	blood:	n/a	n/a
20	MTA3	chr1:92951707-92952034	GM12878	blood:	n/a	n/a
21	ZEB1	chr1:92950595-92952074	HepG2	liver:	n/a	n/a
22	MTA3	chr1:92949554-92952767	GM12878	blood:	n/a	n/a
23	SPI1	chr1:92951518-92952050	HL-60	blood:	n/a	n/a
24	REST	chr1:92948762-92952121	HL-60	blood:	n/a	chr1:92951071-92951084 chr1:92949941-92949950 chr1:92949662-92949675 chr1:92949367-92949380 chr1:92951174-92951187 chr1:92949983-92950001 chr1:92949715-92949724
25	MAX	chr1:92949868-92952051	HepG2	liver:	n/a	chr1:92949942-92949951 chr1:92951472-92951482
26	POLR2A	chr1:92951023-92952040	GM12891	blood:	n/a	n/a
27	POLR2A	chr1:92943372-92953100	NB4	blood:	n/a	n/a
28	MAZ	chr1:92949233-92952685	GM12878	blood:	n/a	chr1:92952080-92952090 chr1:92949942-92949951 chr1:92951472-92951482 chr1:92952098-92952108
29	POLR2A	chr1:92937389-92953582	HL-60	blood:	n/a	n/a
30	POLR2A	chr1:92948007-92953125	GM12891	blood:	n/a	n/a
31	BCLAF1	chr1:92951144-92952015	GM12878	blood:	n/a	chr1:92951518-92951531 chr1:92951284-92951297 chr1:92951516-92951529
32	MAX	chr1:92948820-92951999	NB4	blood:	n/a	chr1:92949942-92949951 chr1:92951472-92951482
33	POLR2A	chr1:92949958-92952746	GM10847	blood:	n/a	n/a
34	MEF2A	chr1:92951187-92951994	GM12878	blood:	n/a	n/a
35	SPI1	chr1:92951822-92952050	GM12891	blood:	n/a	n/a
36	POLR2A	chr1:92947823-92952727	GM18526	blood:	n/a	n/a
37	POLR2A	chr1:92949327-92952037	GM12891	blood:	n/a	n/a
38	POLR2A	chr1:92947848-92952998	GM15510	blood:	n/a	n/a
39	RELA	chr1:92948808-92951994	GM15510	blood:	n/a	n/a
40	POLR2A	chr1:92949659-92952060	GM12892	blood:	n/a	n/a
41	POLR2A	chr1:92943291-92953187	HL-60	blood:	n/a	n/a
42	SPI1	chr1:92951619-92952035	GM12878	blood:	n/a	n/a
43	POLR2A	chr1:92950701-92952050	HepG2	liver:	n/a	n/a
44	PML	chr1:92948799-92952797	GM12878	blood:	n/a	chr1:92951981-92951989
45	POLR2A	chr1:92950966-92951993	HCT-116	colon:	n/a	n/a
46	POLR2A	chr1:92947864-92952775	GM19099	blood:	n/a	n/a
47	POLR2A	chr1:92951347-92952012	GM12878	blood:	n/a	n/a
48	NFIC	chr1:92951256-92952064	GM12878	blood:	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	chr1:92946000-92952000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:92946600-92952000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
6	chr1:92947000-92952000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
7	chr1:92947400-92952000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
8	chr1:92947400-92952600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr1:92947600-92952000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
10	chr1:92947600-92952000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
11	chr1:92947600-92952000	Flanking Bivalent TSS/Enh	Placenta	Placenta
12	chr1:92947600-92952200	Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr1:92947600-92952400	Active TSS	Thymus	Thymus
14	chr1:92947800-92952000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:92947800-92952000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
16	chr1:92947800-92952600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:92948000-92952000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:92948000-92952600	Bivalent/Poised TSS	Small Intestine	intestine
19	chr1:92948000-92952800	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr1:92948200-92952000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
21	chr1:92948200-92952600	Bivalent Enhancer	Fetal Brain Male	brain
22	chr1:92948400-92952600	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr1:92948400-92953000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr1:92948600-92952200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:92948600-92952600	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr1:92948600-92952800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:92948800-92952000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:92949000-92953000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:92949200-92952000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:92949200-92953400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr1:92949600-92952000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:92949800-92952000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
33	chr1:92949800-92952000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:92949800-92952000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:92949800-92952000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
36	chr1:92949800-92952000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
37	chr1:92949800-92952000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
38	chr1:92949800-92952400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:92950000-92952000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
40	chr1:92950000-92952000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:92950000-92952000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
42	chr1:92950000-92952000	Bivalent/Poised TSS	HepG2	liver
43	chr1:92950000-92952400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:92950200-92952000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
45	chr1:92950200-92952000	Bivalent Enhancer	Fetal Heart	heart
46	chr1:92950200-92952000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
47	chr1:92950400-92952000	Active TSS	Hela-S3	cervix
48	chr1:92950600-92952000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
49	chr1:92950600-92952000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr1:92950600-92952200	Active TSS	GM12878-XiMat	blood

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