Variant report

Variant	rs539797550
Chromosome Location	chr2:36825326-36825327
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	ZBTB7A	chr2:36825323-36825486	K562	blood:	n/a	n/a
2	YY1	chr2:36825174-36825327	GM12892	blood:	n/a	n/a
3	POLR2A	chr2:36824358-36825631	GM12891	blood:	n/a	n/a
4	MAZ	chr2:36824047-36825614	IMR90	lung:	n/a	chr2:36824826-36824836 chr2:36825365-36825375 chr2:36824829-36824839
5	POLR2A	chr2:36824229-36825597	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr2:36823132-36825590	K562	blood:	n/a	n/a
7	POLR2A	chr2:36824482-36825494	GM12892	blood:	n/a	n/a
8	YY1	chr2:36825161-36825457	GM12892	blood:	n/a	chr2:36825363-36825372 chr2:36825360-36825369
9	POLR2A	chr2:36824637-36825491	MCF-7	breast:	n/a	n/a
10	HEY1	chr2:36824573-36825489	HepG2	liver:	n/a	chr2:36824998-36825013 chr2:36825359-36825374
11	POLR2A	chr2:36823807-36825384	GM12878	blood:	n/a	n/a
12	YY1	chr2:36825158-36825354	SK-N-SH_RA	brain:	n/a	n/a
13	POLR2A	chr2:36824589-36825531	K562	blood:	n/a	n/a
14	EGR1	chr2:36825283-36825527	K562	blood:	n/a	chr2:36825359-36825369 chr2:36825362-36825371 chr2:36825361-36825374 chr2:36825360-36825375 chr2:36825361-36825374 chr2:36825358-36825372 chr2:36825356-36825378 chr2:36825360-36825374 chr2:36825361-36825374 chr2:36825361-36825371 chr2:36825361-36825374
15	POLR2A	chr2:36824115-36825628	K562	blood:	n/a	n/a
16	POLR2A	chr2:36824588-36825556	IMR90	lung:	n/a	n/a
17	POLR2A	chr2:36824594-36825526	ECC-1	luminal epithelium:	n/a	n/a
18	IRF1	chr2:36824509-36825876	K562	blood:	n/a	chr2:36825356-36825370 chr2:36824894-36824908
19	TAF1	chr2:36825158-36825335	GM12878	blood:	n/a	n/a
20	MXI1	chr2:36824108-36825649	IMR90	lung:	n/a	n/a
21	POLR2A	chr2:36823878-36825600	HUVEC	blood vessel:	n/a	n/a
22	TAF1	chr2:36824744-36825422	HepG2	liver:	n/a	n/a
23	POLR2A	chr2:36824571-36825551	GM15510	blood:	n/a	n/a
24	YY1	chr2:36825167-36825446	GM12878	blood:	n/a	chr2:36825363-36825372 chr2:36825360-36825369
25	POLR2A	chr2:36824465-36825330	Hela-S3	cervix:	n/a	n/a
26	MYC	chr2:36824429-36825572	NB4	blood:	n/a	chr2:36824826-36824836 chr2:36825365-36825375 chr2:36824829-36824839
27	TCF12	chr2:36824221-36825352	A549	lung:	n/a	n/a
28	POLR2A	chr2:36824308-36825518	ProgFib	skin:	n/a	n/a
29	POLR2A	chr2:36824500-36825504	HL-60	blood:	n/a	n/a
30	SIN3A	chr2:36824257-36825822	H1-hESC	embryonic stem cell:	n/a	n/a
31	TAF1	chr2:36824629-36825523	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr2:36824746-36825633	ECC-1	luminal epithelium:	n/a	n/a
33	MXI1	chr2:36823795-36826003	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr2:36824537-36825558	GM19193	blood:	n/a	n/a
35	POLR2A	chr2:36824574-36825461	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr2:36824313-36825422	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr2:36825159-36825387	K562	blood:	n/a	n/a
38	POLR2A	chr2:36824631-36825481	Hela-S3	cervix:	n/a	n/a
39	YY1	chr2:36825165-36825467	SK-N-SH	brain:	n/a	chr2:36825363-36825372 chr2:36825360-36825369
40	TAF1	chr2:36824525-36825391	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr2:36824274-36825594	HepG2	liver:	n/a	n/a
42	EGR1	chr2:36825324-36825446	GM12878	blood:	n/a	chr2:36825359-36825369 chr2:36825362-36825371 chr2:36825361-36825374 chr2:36825360-36825375 chr2:36825361-36825374 chr2:36825358-36825372 chr2:36825356-36825378 chr2:36825360-36825374 chr2:36825361-36825374 chr2:36825361-36825371 chr2:36825361-36825374
43	POLR2A	chr2:36824541-36825599	NB4	blood:	n/a	n/a
44	YY1	chr2:36824637-36825441	K562	blood:	n/a	chr2:36825363-36825372 chr2:36824828-36824837 chr2:36825360-36825369
45	POLR2A	chr2:36825173-36825386	GM12878	blood:	n/a	n/a
46	POLR2A	chr2:36824499-36825553	GM18951	blood:	n/a	n/a
47	POLR2A	chr2:36824265-36825410	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr2:36825160-36825338	H1-hESC	embryonic stem cell:	n/a	n/a
49	HEY1	chr2:36824602-36825339	K562	blood:	n/a	chr2:36824998-36825013
50	POLR2A	chr2:36824269-36825574	GM18505	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18668542..18669248-chr2:36824810..36825370,2	Hela-S3	cervix:
2	chr2:36582902..36585503-chr2:36823410..36825462,3	MCF-7	breast:
3	chr2:36817392..36820041-chr2:36820581..36825790,5	MCF-7	breast:
4	chr2:36824869..36825813-chr7:25164272..25164970,2	Hela-S3	cervix:
5	chr2:36810053..36812056-chr2:36823147..36825466,2	K562	blood:
6	chr2:36824822..36825365-chr3:170587432..170588313,2	HCT-116	colon:
7	chr2:36816372..36820679-chr2:36821932..36827532,8	K562	blood:

Variant related genes	Relation type
FEZ2	TF binding region
ENSG00000150938	Chromatin interaction
ENSG00000172115	Chromatin interaction
ENSG00000105700	Chromatin interaction
ENSG00000256845	Chromatin interaction
ENSG00000163584	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36823400-36825400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:36823400-36825600	Active TSS	NHLF	lung
3	chr2:36823400-36825800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr2:36823800-36825600	Active TSS	Psoas Muscle	Psoas
5	chr2:36824000-36825400	Active TSS	HSMMtube	muscle
6	chr2:36824000-36825600	Active TSS	Brain Germinal Matrix	brain
7	chr2:36824000-36825600	Active TSS	A549	lung
8	chr2:36824000-36825800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:36824200-36825400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr2:36824200-36825400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:36824200-36825400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:36824200-36825600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:36824200-36825600	Active TSS	H9 Cell Line	embryonic stem cell
14	chr2:36824400-36825400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:36824400-36825400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr2:36824400-36825400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr2:36824400-36825400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr2:36824400-36825400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:36824400-36825400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:36824400-36825400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:36824400-36825400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:36824400-36825400	Active TSS	Muscle Satellite Cultured Cells	--
23	chr2:36824400-36825400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:36824400-36825400	Active TSS	Fetal Intestine Small	intestine
25	chr2:36824400-36825400	Active TSS	Rectal Smooth Muscle	rectum
26	chr2:36824400-36825400	Active TSS	Small Intestine	intestine
27	chr2:36824400-36825400	Active TSS	HMEC	breast
28	chr2:36824400-36825400	Active TSS	HSMM	muscle
29	chr2:36824400-36825400	Active TSS	NH-A	brain
30	chr2:36824400-36825400	Active TSS	NHDF-Ad	bronchial
31	chr2:36824400-36825400	Active TSS	Osteobl	bone
32	chr2:36824400-36825600	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr2:36824400-36825600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:36824400-36825600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:36824400-36825600	Active TSS	Brain Hippocampus Middle	brain
36	chr2:36824400-36825600	Active TSS	Colon Smooth Muscle	Colon
37	chr2:36824400-36825600	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr2:36824400-36825600	Active TSS	Left Ventricle	heart
39	chr2:36824400-36825600	Active TSS	Ovary	ovary
40	chr2:36824400-36825600	Active TSS	GM12878-XiMat	blood
41	chr2:36824400-36825800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:36824400-36825800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr2:36824400-36825800	Active TSS	Aorta	Aorta
44	chr2:36824400-36825800	Active TSS	Fetal Muscle Trunk	muscle
45	chr2:36824400-36825800	Active TSS	Gastric	stomach
46	chr2:36824400-36826000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:36824400-36826000	Active TSS	Brain Angular Gyrus	brain
48	chr2:36824600-36825400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:36824600-36825400	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr2:36824600-36825400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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