Variant report

Variant	rs13020506
Chromosome Location	chr2:33825109-33825110
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr2:33823405-33825273	MCF10A-Er-Src	breast:	n/a	n/a
2	E2F6	chr2:33823957-33825126	A549	lung:	n/a	chr2:33824499-33824508 chr2:33824639-33824648
3	POLR2A	chr2:33823547-33825111	HepG2	liver:	n/a	n/a
4	MAX	chr2:33823747-33825189	A549	lung:	n/a	n/a
5	MXI1	chr2:33823211-33825380	IMR90	lung:	n/a	n/a
6	MXI1	chr2:33822488-33825358	SK-N-SH	brain:	n/a	n/a
7	MAX	chr2:33823459-33825185	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:33823887-33825145	HL-60	blood:	n/a	n/a
9	MAX	chr2:33823576-33825109	Hela-S3	cervix:	n/a	n/a
10	E2F4	chr2:33823988-33825142	MCF10A-Er-Src	breast:	n/a	chr2:33824499-33824508 chr2:33824639-33824648
11	MAX	chr2:33823735-33825135	GM12878	blood:	n/a	n/a
12	E2F6	chr2:33823972-33825165	H1-hESC	embryonic stem cell:	n/a	chr2:33824499-33824508 chr2:33824639-33824648
13	MAX	chr2:33823567-33825220	HCT-116	colon:	n/a	n/a
14	MAX	chr2:33823524-33825166	NB4	blood:	n/a	n/a
15	E2F6	chr2:33823923-33825166	K562	blood:	n/a	chr2:33824499-33824508 chr2:33824639-33824648
16	MAX	chr2:33823551-33825115	ECC-1	luminal epithelium:	n/a	n/a
17	HCFC1	chr2:33823253-33825166	Hela-S3	cervix:	n/a	n/a
18	SIN3AK20	chr2:33823342-33825194	MCF-7	breast:	n/a	n/a
19	TAF1	chr2:33823801-33825146	A549	lung:	n/a	n/a
20	RAD21	chr2:33824240-33825152	H1-hESC	embryonic stem cell:	n/a	n/a
21	ARID3A	chr2:33824013-33825110	HepG2	liver:	n/a	n/a
22	TCF12	chr2:33823442-33825135	A549	lung:	n/a	chr2:33823905-33823915
23	REST	chr2:33823948-33825187	A549	lung:	n/a	chr2:33824137-33824150 chr2:33824564-33824577
24	EBF1	chr2:33823492-33825243	GM12878	blood:	n/a	n/a
25	MAX	chr2:33823464-33825299	A549	lung:	n/a	n/a
26	MYC	chr2:33824181-33825333	MCF10A-Er-Src	breast:	n/a	n/a
27	HDAC2	chr2:33823823-33825134	MCF-7	breast:	n/a	n/a
28	NRF1	chr2:33823446-33825384	SK-N-SH	brain:	n/a	chr2:33824648-33824657 chr2:33824498-33824509 chr2:33824621-33824632 chr2:33824639-33824648 chr2:33824412-33824423 chr2:33824423-33824434 chr2:33824500-33824509
29	STAT3	chr2:33825091-33825280	MCF10A-Er-Src	breast:	n/a	n/a
30	ZNF263	chr2:33823534-33825127	HEK293-T-REx	kidney:	n/a	n/a
31	MAX	chr2:33823541-33825116	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:33825072-33825122	IMR90	lung:	fetal
2	chr2:33825072-33825122	HCM	heart:	n/a
3	chr2:33825072-33825122	ProgFib	skin:	n/a
4	chr2:33825072-33825122	PANC-1	pancreas:	n/a
5	chr2:33825072-33825122	SK-N-MC	brain:	n/a
6	chr2:33825072-33825122	HPAEpiC	pulmonary alveolar:	n/a
7	chr2:33825072-33825122	HUVEC	blood vessel:	n/a
8	chr2:33825072-33825122	Hela-S3	cervix:	n/a
9	chr2:33825072-33825122	HL-60	blood:	n/a
10	chr2:33825072-33825122	Hepatocyte	liver:	n/a
11	chr2:33825072-33825122	K562	blood:	n/a
12	chr2:33825072-33825122	NH-A	brain:	n/a
13	chr2:33825072-33825122	HepG2	liver:	n/a
14	chr2:33825072-33825122	SK-N-SH_RA	brain:	n/a
15	chr2:33825072-33825122	NHDF-neo	bronchial:	n/a
16	chr2:33825072-33825122	AG04449	skin:	fetal
17	chr2:33825072-33825122	AG09309	skin:	n/a
18	chr2:33825072-33825122	PrEC	prostate:	n/a
19	chr2:33825072-33825122	ECC-1	luminal epithelium:	n/a
20	chr2:33825072-33825122	GM12891	blood:	n/a
21	chr2:33825072-33825122	SAEC	small airway:	n/a
22	chr2:33825072-33825122	BE2_C	brain:	n/a
23	chr2:33825072-33825122	H1-hESC	embryonic stem cell:	embryo
24	chr2:33825072-33825122	NHBE	bronchial:	n/a
25	chr2:33825072-33825122	GM12892	blood:	n/a
26	chr2:33825072-33825122	SK-N-SH	brain:	n/a
27	chr2:33825072-33825122	GM12878	blood:	n/a
28	chr2:33825072-33825122	HCPEpiC	choroid plexus:	n/a
29	chr2:33825072-33825122	HEEpiC	esophagus:	n/a
30	chr2:33825072-33825122	HCF	heart:	n/a
31	chr2:33825072-33825122	AG09319	gingival:	n/a
32	chr2:33825072-33825122	MCF10A-Er-Src	breast:	n/a
33	chr2:33825072-33825122	HRE	kidney:	n/a
34	chr2:33825072-33825122	AG10803	skin:	n/a
35	chr2:33825072-33825122	HCT-116	colon:	n/a
36	chr2:33825072-33825122	LNCaP	prostate:	n/a
37	chr2:33825072-33825122	T-47D	breast:	n/a
38	chr2:33825072-33825122	A549	lung:	n/a
39	chr2:33825072-33825122	PFSK-1	brain:	n/a
40	chr2:33825072-33825122	HAEpiC	amniotic membrane:	n/a
41	chr2:33825072-33825122	CMK	blood:	n/a
42	chr2:33825072-33825122	GM19239	blood:	n/a
43	chr2:33825072-33825122	HNPCEpiC	eye:	n/a
44	chr2:33825072-33825122	ovcar-3	ovarian:	n/a
45	chr2:33825072-33825122	SKMC	muscle:	n/a
46	chr2:33825072-33825122	RPTEC	kidney:	n/a
47	chr2:33825072-33825122	HRPEpiC	eye:	n/a
48	chr2:33825072-33825122	HEK293	kidney:	embryo
49	chr2:33825072-33825122	Jurkat	blood:	n/a
50	chr2:33825072-33825122	HRCEpiC	kidney:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33813884..33820375-chr2:33821086..33825904,10	K562	blood:

No data

Variant related genes	Relation type
ATP6V0E1P3	TF binding region
FAM98A	TF binding region
FAM98A	CpG island
ATP6V0E1P3	CpG island
ENSG00000119812	Chromatin interaction

rs_ID	r²[population]
rs12712342	0.82[AFR][1000 genomes]
rs12990303	0.80[AFR][1000 genomes]
rs13028004	1.00[GIH][hapmap]
rs34321218	0.80[AFR][1000 genomes]
rs34482270	0.80[AFR][1000 genomes]
rs35630933	0.80[AFR][1000 genomes]
rs73928946	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33821600-33825200	Active TSS	Ovary	ovary
2	chr2:33822000-33825400	Active TSS	NHLF	lung
3	chr2:33822200-33826000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:33822400-33825200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:33822400-33825400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:33822600-33825200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:33822600-33825200	Active TSS	Aorta	Aorta
8	chr2:33822600-33825200	Active TSS	Right Ventricle	heart
9	chr2:33822600-33825400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:33822600-33825400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr2:33822600-33825400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr2:33822600-33825400	Active TSS	NH-A	brain
13	chr2:33822800-33825200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr2:33822800-33825200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:33822800-33825400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr2:33823000-33825200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:33823000-33825200	Active TSS	Psoas Muscle	Psoas
18	chr2:33823000-33825200	Active TSS	Right Atrium	heart
19	chr2:33823000-33825200	Active TSS	NHDF-Ad	bronchial
20	chr2:33823000-33825400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:33823000-33825400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr2:33823000-33825400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:33823000-33825400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:33823000-33825400	Active TSS	HMEC	breast
25	chr2:33823200-33825200	Active TSS	H9 Cell Line	embryonic stem cell
26	chr2:33823200-33825200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:33823200-33825200	Active TSS	Fetal Stomach	stomach
28	chr2:33823200-33825200	Active TSS	HSMMtube	muscle
29	chr2:33823400-33825200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:33823400-33825200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:33823400-33825200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:33823400-33825200	Active TSS	Colonic Mucosa	Colon
33	chr2:33823400-33825400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr2:33823400-33825400	Active TSS	A549	lung
35	chr2:33823600-33825200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:33823600-33825200	Active TSS	Fetal Brain Male	brain
37	chr2:33823600-33825200	Active TSS	Fetal Kidney	kidney
38	chr2:33823600-33825200	Active TSS	Fetal Lung	lung
39	chr2:33823600-33825400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:33823600-33825400	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr2:33823600-33825400	Active TSS	Brain Hippocampus Middle	brain
42	chr2:33823600-33825400	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr2:33823800-33825200	Active TSS	Brain Angular Gyrus	brain
44	chr2:33823800-33825200	Active TSS	Fetal Muscle Leg	muscle
45	chr2:33823800-33825200	Active TSS	Fetal Thymus	thymus
46	chr2:33823800-33825200	Active TSS	Rectal Smooth Muscle	rectum
47	chr2:33823800-33825200	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr2:33823800-33825200	Active TSS	Thymus	Thymus
49	chr2:33823800-33825400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:33824000-33825200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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