Variant report

Variant	rs561478563
Chromosome Location	chr2:36824487-36824488
allele	C/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	E2F6	chr2:36824228-36825087	K562	blood:	n/a	chr2:36824828-36824837 chr2:36824788-36824800
2	POLR2A	chr2:36824358-36825631	GM12891	blood:	n/a	n/a
3	MAZ	chr2:36824047-36825614	IMR90	lung:	n/a	chr2:36824826-36824836 chr2:36825365-36825375 chr2:36824829-36824839
4	POLR2A	chr2:36824229-36825597	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr2:36823132-36825590	K562	blood:	n/a	n/a
6	POLR2A	chr2:36824482-36825494	GM12892	blood:	n/a	n/a
7	POLR2A	chr2:36824467-36825143	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAZ	chr2:36824487-36825283	Hela-S3	cervix:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
9	POLR2A	chr2:36824445-36825296	PFSK-1	brain:	n/a	n/a
10	MAX	chr2:36824295-36825059	A549	lung:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
11	POLR2A	chr2:36823807-36825384	GM12878	blood:	n/a	n/a
12	MAX	chr2:36824331-36825165	HCT-116	colon:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
13	POLR2A	chr2:36824115-36825628	K562	blood:	n/a	n/a
14	SIN3AK20	chr2:36824392-36825045	MCF-7	breast:	n/a	n/a
15	E2F6	chr2:36824397-36825045	H1-hESC	embryonic stem cell:	n/a	chr2:36824828-36824837 chr2:36824788-36824800
16	MAX	chr2:36824175-36825192	A549	lung:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
17	MTA3	chr2:36824080-36824976	GM12878	blood:	n/a	n/a
18	TAL1	chr2:36824379-36824658	K562	blood:	n/a	n/a
19	MXI1	chr2:36824108-36825649	IMR90	lung:	n/a	n/a
20	POLR2A	chr2:36823878-36825600	HUVEC	blood vessel:	n/a	n/a
21	MAX	chr2:36824405-36825177	SK-N-SH	brain:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
22	POLR2A	chr2:36824465-36825330	Hela-S3	cervix:	n/a	n/a
23	MYC	chr2:36824429-36825572	NB4	blood:	n/a	chr2:36824826-36824836 chr2:36825365-36825375 chr2:36824829-36824839
24	TCF12	chr2:36824221-36825352	A549	lung:	n/a	n/a
25	POLR2A	chr2:36824308-36825518	ProgFib	skin:	n/a	n/a
26	MAX	chr2:36824303-36825075	ECC-1	luminal epithelium:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
27	MAX	chr2:36824065-36825229	A549	lung:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
28	SIN3A	chr2:36824257-36825822	H1-hESC	embryonic stem cell:	n/a	n/a
29	MXI1	chr2:36823795-36826003	SK-N-SH	brain:	n/a	n/a
30	MYC	chr2:36824458-36825002	MCF10A-Er-Src	breast:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
31	POLR2A	chr2:36824313-36825422	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr2:36824274-36825594	HepG2	liver:	n/a	n/a
33	POLR2A	chr2:36824369-36825270	GM12878	blood:	n/a	n/a
34	YY1	chr2:36824450-36825040	H1-hESC	embryonic stem cell:	n/a	chr2:36824828-36824837
35	MAX	chr2:36824309-36824983	MCF-7	breast:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
36	GTF2F1	chr2:36824285-36825103	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr2:36824265-36825410	SK-N-SH	brain:	n/a	n/a
38	ATF2	chr2:36824462-36824907	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr2:36824080-36825271	PANC-1	pancreas:	n/a	n/a
40	POLR2A	chr2:36824269-36825574	GM18505	blood:	n/a	n/a
41	MAX	chr2:36824408-36825087	H1-hESC	embryonic stem cell:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
42	MXI1	chr2:36824434-36825052	Hela-S3	cervix:	n/a	n/a
43	SP1	chr2:36824463-36825087	H1-hESC	embryonic stem cell:	n/a	chr2:36824985-36824999 chr2:36824895-36824904 chr2:36824894-36824906 chr2:36824891-36824905 chr2:36824787-36824798 chr2:36824831-36824845
44	RAD21	chr2:36824484-36824992	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr2:36824365-36825592	Raji	blood:	n/a	n/a
46	MAX	chr2:36824394-36825115	SK-N-SH	brain:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
47	SIN3AK20	chr2:36824179-36825312	MCF-7	breast:	n/a	n/a
48	USF2	chr2:36824353-36824850	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr2:36824166-36825582	GM12892	blood:	n/a	n/a
50	SIN3AK20	chr2:36824436-36824939	A549	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
ENSG00000171055	Chromatin interaction
ENSG00000256845	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	chr2:36822600-36824600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr2:36822800-36824600	Flanking Active TSS	HUVEC	blood vessel
3	chr2:36823200-36824600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:36823200-36824800	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr2:36823200-36824800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr2:36823400-36824600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:36823400-36824600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:36823400-36824600	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr2:36823400-36824600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
10	chr2:36823400-36824600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:36823400-36824600	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr2:36823400-36824600	Flanking Active TSS	Placenta	Placenta
13	chr2:36823400-36824600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr2:36823400-36824600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr2:36823400-36824800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:36823400-36824800	Flanking Active TSS	Dnd41	blood
17	chr2:36823400-36824800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr2:36823400-36825400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:36823400-36825600	Active TSS	NHLF	lung
20	chr2:36823400-36825800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr2:36823600-36824600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:36823600-36824600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr2:36823600-36824600	Flanking Active TSS	Fetal Brain Female	brain
24	chr2:36823600-36824600	Flanking Active TSS	Hela-S3	cervix
25	chr2:36823600-36824600	Flanking Active TSS	NHEK	skin
26	chr2:36823600-36824800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr2:36823600-36824800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:36823800-36824600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr2:36823800-36824600	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr2:36823800-36824800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr2:36823800-36824800	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr2:36823800-36825600	Active TSS	Psoas Muscle	Psoas
33	chr2:36824000-36824600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:36824000-36824600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr2:36824000-36824600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr2:36824000-36824600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:36824000-36824600	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr2:36824000-36824600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr2:36824000-36824600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr2:36824000-36824600	Flanking Active TSS	Colonic Mucosa	Colon
41	chr2:36824000-36824600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr2:36824000-36824600	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr2:36824000-36824600	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr2:36824000-36824600	Flanking Active TSS	Thymus	Thymus
45	chr2:36824000-36824600	Flanking Active TSS	K562	blood
46	chr2:36824000-36824800	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr2:36824000-36825400	Active TSS	HSMMtube	muscle
48	chr2:36824000-36825600	Active TSS	Brain Germinal Matrix	brain
49	chr2:36824000-36825600	Active TSS	A549	lung
50	chr2:36824000-36825800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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