Variant report

Variant	rs575258464
Chromosome Location	chr2:36824792-36824793
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	RCOR1	chr2:36824737-36825151	HepG2	liver:	n/a	n/a
2	E2F6	chr2:36824228-36825087	K562	blood:	n/a	chr2:36824828-36824837 chr2:36824788-36824800
3	POLR2A	chr2:36824492-36825287	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr2:36824358-36825631	GM12891	blood:	n/a	n/a
5	MAZ	chr2:36824047-36825614	IMR90	lung:	n/a	chr2:36824826-36824836 chr2:36825365-36825375 chr2:36824829-36824839
6	PML	chr2:36824770-36825142	K562	blood:	n/a	n/a
7	POLR2A	chr2:36824229-36825597	Hela-S3	cervix:	n/a	n/a
8	RAD21	chr2:36824572-36825095	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr2:36823132-36825590	K562	blood:	n/a	n/a
10	POLR2A	chr2:36824482-36825494	GM12892	blood:	n/a	n/a
11	POLR2A	chr2:36824467-36825143	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr2:36824617-36825135	A549	lung:	n/a	n/a
13	MAZ	chr2:36824487-36825283	Hela-S3	cervix:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
14	POLR2A	chr2:36824445-36825296	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr2:36824637-36825491	MCF-7	breast:	n/a	n/a
16	MAX	chr2:36824295-36825059	A549	lung:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
17	HEY1	chr2:36824573-36825489	HepG2	liver:	n/a	chr2:36824998-36825013 chr2:36825359-36825374
18	ZBTB7A	chr2:36824744-36825060	HepG2	liver:	n/a	n/a
19	E2F4	chr2:36824736-36824919	GM12878	blood:	n/a	chr2:36824828-36824837 chr2:36824788-36824800
20	POLR2A	chr2:36824712-36825134	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:36823807-36825384	GM12878	blood:	n/a	n/a
22	MYC	chr2:36824494-36825139	K562	blood:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
23	MAX	chr2:36824331-36825165	HCT-116	colon:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
24	POLR2A	chr2:36824507-36825318	U87	brain:	n/a	n/a
25	HEY1	chr2:36824770-36825130	K562	blood:	n/a	chr2:36824998-36825013
26	BACH1	chr2:36824686-36825087	H1-hESC	embryonic stem cell:	n/a	n/a
27	ELF1	chr2:36824576-36825119	A549	lung:	n/a	n/a
28	POLR2A	chr2:36824741-36825086	U87	brain:	n/a	n/a
29	YY1	chr2:36824502-36825105	H1-hESC	embryonic stem cell:	n/a	chr2:36824828-36824837
30	POLR2A	chr2:36824589-36825531	K562	blood:	n/a	n/a
31	POLR2A	chr2:36824502-36824857	H1-neurons	neurons:	n/a	n/a
32	CEBPD	chr2:36824654-36825002	HepG2	liver:	n/a	n/a
33	POLR2A	chr2:36824115-36825628	K562	blood:	n/a	n/a
34	CREB1	chr2:36824716-36825094	A549	lung:	n/a	n/a
35	CHD1	chr2:36824527-36825074	GM12878	blood:	n/a	chr2:36824965-36824975
36	SP1	chr2:36824587-36825104	A549	lung:	n/a	chr2:36824985-36824999 chr2:36824895-36824904 chr2:36824894-36824906 chr2:36824891-36824905 chr2:36824787-36824798 chr2:36824831-36824845
37	POLR2A	chr2:36824588-36825556	IMR90	lung:	n/a	n/a
38	POLR2A	chr2:36824732-36825124	GM12891	blood:	n/a	n/a
39	SIN3AK20	chr2:36824392-36825045	MCF-7	breast:	n/a	n/a
40	POLR2A	chr2:36824594-36825526	ECC-1	luminal epithelium:	n/a	n/a
41	E2F6	chr2:36824397-36825045	H1-hESC	embryonic stem cell:	n/a	chr2:36824828-36824837 chr2:36824788-36824800
42	MAX	chr2:36824175-36825192	A549	lung:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
43	USF1	chr2:36824543-36824830	SK-N-SH_RA	brain:	n/a	n/a
44	IRF1	chr2:36824509-36825876	K562	blood:	n/a	chr2:36825356-36825370 chr2:36824894-36824908
45	TAF1	chr2:36824719-36825111	K562	blood:	n/a	n/a
46	MTA3	chr2:36824080-36824976	GM12878	blood:	n/a	n/a
47	ELF1	chr2:36824515-36825308	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:36824690-36825131	GM12891	blood:	n/a	n/a
49	USF1	chr2:36824537-36824890	SK-N-SH_RA	brain:	n/a	n/a
50	MXI1	chr2:36824108-36825649	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:36795603..36797557-chr2:36823655..36825213,2	MCF-7	breast:
2	chr2:36582902..36585503-chr2:36823410..36825462,3	MCF-7	breast:
3	chr2:36817392..36820041-chr2:36820581..36825790,5	MCF-7	breast:
4	chr2:36773274..36774998-chr2:36822690..36824944,2	MCF-7	breast:
5	chr2:36806495..36808233-chr2:36823601..36825272,2	K562	blood:
6	chr2:36823490..36825133-chr2:36832447..36835155,2	K562	blood:
7	chr15:40659687..40660521-chr2:36824351..36825100,2	Hela-S3	cervix:
8	chr2:36810053..36812056-chr2:36823147..36825466,2	K562	blood:
9	chr2:36816372..36820679-chr2:36821932..36827532,8	K562	blood:

Variant related genes	Relation type
FEZ2	TF binding region
ENSG00000150938	Chromatin interaction
ENSG00000256845	Chromatin interaction
ENSG00000171055	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv2681	chr2:36822990-36848171	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3339525	chr2:36824073-36826621	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3342085	chr2:36824398-36826396	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36823200-36824800	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr2:36823200-36824800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr2:36823400-36824800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:36823400-36824800	Flanking Active TSS	Dnd41	blood
5	chr2:36823400-36824800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr2:36823400-36825400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:36823400-36825600	Active TSS	NHLF	lung
8	chr2:36823400-36825800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr2:36823600-36824800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr2:36823600-36824800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:36823800-36824800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr2:36823800-36824800	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr2:36823800-36825600	Active TSS	Psoas Muscle	Psoas
14	chr2:36824000-36824800	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr2:36824000-36825400	Active TSS	HSMMtube	muscle
16	chr2:36824000-36825600	Active TSS	Brain Germinal Matrix	brain
17	chr2:36824000-36825600	Active TSS	A549	lung
18	chr2:36824000-36825800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:36824200-36824800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr2:36824200-36824800	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr2:36824200-36824800	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr2:36824200-36824800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr2:36824200-36824800	Flanking Active TSS	Liver	Liver
24	chr2:36824200-36824800	Flanking Active TSS	Right Ventricle	heart
25	chr2:36824200-36824800	Flanking Active TSS	Spleen	Spleen
26	chr2:36824200-36825000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:36824200-36825200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:36824200-36825400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr2:36824200-36825400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:36824200-36825400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:36824200-36825600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:36824200-36825600	Active TSS	H9 Cell Line	embryonic stem cell
33	chr2:36824400-36824800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
34	chr2:36824400-36824800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:36824400-36824800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr2:36824400-36824800	Active TSS	Fetal Brain Male	brain
37	chr2:36824400-36824800	Active TSS	Stomach Mucosa	stomach
38	chr2:36824400-36825000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:36824400-36825200	Active TSS	Esophagus	oesophagus
40	chr2:36824400-36825200	Active TSS	Lung	lung
41	chr2:36824400-36825400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:36824400-36825400	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr2:36824400-36825400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr2:36824400-36825400	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr2:36824400-36825400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:36824400-36825400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:36824400-36825400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:36824400-36825400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:36824400-36825400	Active TSS	Muscle Satellite Cultured Cells	--
50	chr2:36824400-36825400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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