Variant report

Variant	rs564847474
Chromosome Location	chr2:36825402-36825403
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	ZBTB7A	chr2:36825323-36825486	K562	blood:	n/a	n/a
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	YY1	chr2:36825161-36825457	GM12892	blood:	n/a	chr2:36825363-36825372 chr2:36825360-36825369
8	POLR2A	chr2:36824637-36825491	MCF-7	breast:	n/a	n/a
9	HEY1	chr2:36824573-36825489	HepG2	liver:	n/a	chr2:36824998-36825013 chr2:36825359-36825374
10	PBX3	chr2:36825349-36825448	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:36824589-36825531	K562	blood:	n/a	n/a
12	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
13	POLR2A	chr2:36824115-36825628	K562	blood:	n/a	n/a
14	SIN3AK20	chr2:36825331-36825458	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:36824588-36825556	IMR90	lung:	n/a	n/a
16	POLR2A	chr2:36824594-36825526	ECC-1	luminal epithelium:	n/a	n/a
17	IRF1	chr2:36824509-36825876	K562	blood:	n/a	chr2:36825356-36825370 chr2:36824894-36824908
18	MXI1	chr2:36824108-36825649	IMR90	lung:	n/a	n/a
19	POLR2A	chr2:36823878-36825600	HUVEC	blood vessel:	n/a	n/a
20	TAF1	chr2:36824744-36825422	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:36824571-36825551	GM15510	blood:	n/a	n/a
22	E2F4	chr2:36825340-36825474	MCF10A-Er-Src	breast:	n/a	chr2:36825366-36825375 chr2:36825360-36825369
23	YY1	chr2:36825167-36825446	GM12878	blood:	n/a	chr2:36825363-36825372 chr2:36825360-36825369
24	MYC	chr2:36824429-36825572	NB4	blood:	n/a	chr2:36824826-36824836 chr2:36825365-36825375 chr2:36824829-36824839
25	POLR2A	chr2:36824308-36825518	ProgFib	skin:	n/a	n/a
26	POLR2A	chr2:36824500-36825504	HL-60	blood:	n/a	n/a
27	SIN3A	chr2:36824257-36825822	H1-hESC	embryonic stem cell:	n/a	n/a
28	TAF1	chr2:36824629-36825523	ECC-1	luminal epithelium:	n/a	n/a
29	HEY1	chr2:36825359-36825510	K562	blood:	n/a	chr2:36825359-36825374
30	POLR2A	chr2:36824746-36825633	ECC-1	luminal epithelium:	n/a	n/a
31	MXI1	chr2:36823795-36826003	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr2:36824537-36825558	GM19193	blood:	n/a	n/a
33	POLR2A	chr2:36824574-36825461	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr2:36824313-36825422	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr2:36824631-36825481	Hela-S3	cervix:	n/a	n/a
36	YY1	chr2:36825165-36825467	SK-N-SH	brain:	n/a	chr2:36825363-36825372 chr2:36825360-36825369
37	POLR2A	chr2:36824274-36825594	HepG2	liver:	n/a	n/a
38	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
39	POLR2A	chr2:36824541-36825599	NB4	blood:	n/a	n/a
40	YY1	chr2:36824637-36825441	K562	blood:	n/a	chr2:36825363-36825372 chr2:36824828-36824837 chr2:36825360-36825369
41	POLR2A	chr2:36824499-36825553	GM18951	blood:	n/a	n/a
42	POLR2A	chr2:36825354-36825571	HCT-116	colon:	n/a	n/a
43	POLR2A	chr2:36824265-36825410	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr2:36824269-36825574	GM18505	blood:	n/a	n/a
45	POLR2A	chr2:36824708-36825407	MCF-7	breast:	n/a	n/a
46	MAZ	chr2:36824756-36825651	HepG2	liver:	n/a	chr2:36824826-36824836 chr2:36825365-36825375 chr2:36824829-36824839
47	POLR2A	chr2:36824563-36825589	MCF10A-Er-Src	breast:	n/a	n/a
48	TAF1	chr2:36825162-36825446	K562	blood:	n/a	n/a
49	TAF1	chr2:36824728-36825466	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr2:36824365-36825592	Raji	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:36825355-36825405	BE2_C	brain:	n/a
2	chr2:36825379-36825429	Caco-2	colon:	n/a
3	chr2:36825355-36825405	U87	brain:	n/a
4	chr2:36825355-36825405	NH-A	brain:	n/a
5	chr2:36825355-36825405	HEK293	kidney:	embryo
6	chr2:36825355-36825405	GM12892	blood:	n/a
7	chr2:36825379-36825429	NB4	blood:	n/a
8	chr2:36825379-36825429	HCF	heart:	n/a
9	chr2:36825355-36825405	GM12878	blood:	n/a
10	chr2:36825379-36825429	PANC-1	pancreas:	n/a
11	chr2:36825379-36825429	HEEpiC	esophagus:	n/a
12	chr2:36825355-36825405	HCM	heart:	n/a
13	chr2:36825379-36825429	GM12892	blood:	n/a
14	chr2:36825355-36825405	HUVEC	blood vessel:	n/a
15	chr2:36825379-36825429	PFSK-1	brain:	n/a
16	chr2:36825379-36825429	AG10803	skin:	n/a
17	chr2:36825355-36825405	HCPEpiC	choroid plexus:	n/a
18	chr2:36825379-36825429	H1-hESC	embryonic stem cell:	embryo
19	chr2:36825379-36825429	HIPEpiC	eye:	n/a
20	chr2:36825379-36825429	AG09309	skin:	n/a
21	chr2:36825355-36825405	HepG2	liver:	n/a
22	chr2:36825355-36825405	SKMC	muscle:	n/a
23	chr2:36825379-36825429	HCM	heart:	n/a
24	chr2:36825379-36825429	Jurkat	blood:	n/a
25	chr2:36825379-36825429	RPTEC	kidney:	n/a
26	chr2:36825379-36825429	HCT-116	colon:	n/a
27	chr2:36825355-36825405	MCF10A-Er-Src	breast:	n/a
28	chr2:36825355-36825405	AG09319	gingival:	n/a
29	chr2:36825355-36825405	HIPEpiC	eye:	n/a
30	chr2:36825355-36825405	ovcar-3	ovarian:	n/a
31	chr2:36825379-36825429	SAEC	small airway:	n/a
32	chr2:36825379-36825429	SK-N-MC	brain:	n/a
33	chr2:36825379-36825429	HEK293	kidney:	embryo
34	chr2:36825355-36825405	CMK	blood:	n/a
35	chr2:36825379-36825429	HMEC	breast:	n/a
36	chr2:36825379-36825429	HCPEpiC	choroid plexus:	n/a
37	chr2:36825379-36825429	HL-60	blood:	n/a
38	chr2:36825355-36825405	T-47D	breast:	n/a
39	chr2:36825379-36825429	ECC-1	luminal epithelium:	n/a
40	chr2:36825379-36825429	HUVEC	blood vessel:	n/a
41	chr2:36825355-36825405	MCF-7	breast:	n/a
42	chr2:36825355-36825405	PANC-1	pancreas:	n/a
43	chr2:36825355-36825405	PFSK-1	brain:	n/a
44	chr2:36825355-36825405	HPAEpiC	pulmonary alveolar:	n/a
45	chr2:36825379-36825429	HRE	kidney:	n/a
46	chr2:36825379-36825429	Hela-S3	cervix:	n/a
47	chr2:36825379-36825429	HRPEpiC	eye:	n/a
48	chr2:36825379-36825429	K562	blood:	n/a
49	chr2:36825355-36825405	K562	blood:	n/a
50	chr2:36825355-36825405	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:36825393..36826238-chr3:170587410..170588332,2	HCT-116	colon:
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	chr2:36816372..36820679-chr2:36821932..36827532,8	K562	blood:

Variant related genes	Relation type
FEZ2	TF binding region
FEZ2	CpG island
ENSG00000172115	Chromatin interaction
ENSG00000256845	Chromatin interaction
ENSG00000150938	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36823400-36825600	Active TSS	NHLF	lung
2	chr2:36823400-36825800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr2:36823800-36825600	Active TSS	Psoas Muscle	Psoas
4	chr2:36824000-36825600	Active TSS	Brain Germinal Matrix	brain
5	chr2:36824000-36825600	Active TSS	A549	lung
6	chr2:36824000-36825800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:36824200-36825600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:36824200-36825600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr2:36824400-36825600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr2:36824400-36825600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:36824400-36825600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:36824400-36825600	Active TSS	Brain Hippocampus Middle	brain
13	chr2:36824400-36825600	Active TSS	Colon Smooth Muscle	Colon
14	chr2:36824400-36825600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr2:36824400-36825600	Active TSS	Left Ventricle	heart
16	chr2:36824400-36825600	Active TSS	Ovary	ovary
17	chr2:36824400-36825600	Active TSS	GM12878-XiMat	blood
18	chr2:36824400-36825800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:36824400-36825800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr2:36824400-36825800	Active TSS	Aorta	Aorta
21	chr2:36824400-36825800	Active TSS	Fetal Muscle Trunk	muscle
22	chr2:36824400-36825800	Active TSS	Gastric	stomach
23	chr2:36824400-36826000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:36824400-36826000	Active TSS	Brain Angular Gyrus	brain
25	chr2:36824600-36825600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr2:36824600-36825600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:36824600-36825600	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr2:36824600-36825600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr2:36824600-36825600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:36824600-36825600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:36824600-36825600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:36824600-36825600	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr2:36824600-36825600	Active TSS	Brain Substantia Nigra	brain
34	chr2:36824600-36825600	Active TSS	Colonic Mucosa	Colon
35	chr2:36824600-36825600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr2:36824600-36825600	Active TSS	Fetal Brain Female	brain
37	chr2:36824600-36825600	Active TSS	Fetal Intestine Large	intestine
38	chr2:36824600-36825600	Active TSS	Fetal Lung	lung
39	chr2:36824600-36825600	Active TSS	Pancreas	Pancrea
40	chr2:36824600-36825800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:36824600-36825800	Active TSS	Primary T cells from cord blood	blood
42	chr2:36824600-36825800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:36824600-36825800	Active TSS	Brain Cingulate Gyrus	brain
44	chr2:36824600-36825800	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr2:36824600-36825800	Active TSS	Thymus	Thymus
46	chr2:36824600-36826000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:36824600-36826000	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr2:36824800-36825600	Active TSS	H1 Cell Line	embryonic stem cell
49	chr2:36824800-36825600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:36824800-36825600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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