Variant report

Variant	rs185871965
Chromosome Location	chr2:58655189-58655190
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	YY1	chr2:58654857-58655643	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr2:58654613-58655407	A549	lung:	n/a	n/a
3	POLR2A	chr2:58654580-58656569	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr2:58654370-58656704	H1-hESC	embryonic stem cell:	n/a	n/a
5	HA-E2F1	chr2:58654626-58655583	MCF-7	breast:	n/a	chr2:58654865-58654874
6	JUND	chr2:58655012-58655213	HepG2	liver:	n/a	chr2:58655116-58655124 chr2:58655114-58655125
7	MAX	chr2:58654732-58655587	H1-hESC	embryonic stem cell:	n/a	n/a
8	FOS	chr2:58654967-58655257	MCF10A-Er-Src	breast:	n/a	chr2:58655116-58655124
9	TAF7	chr2:58654742-58655238	H1-hESC	embryonic stem cell:	n/a	n/a
10	TBP	chr2:58654751-58656508	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr2:58654669-58655629	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTBP2	chr2:58654675-58655588	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr2:58654474-58655213	ECC-1	luminal epithelium:	n/a	n/a
14	ZNF143	chr2:58655023-58656088	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr2:58654616-58655401	ECC-1	luminal epithelium:	n/a	n/a
16	STAT3	chr2:58655172-58655245	MCF10A-Er-Src	breast:	n/a	n/a
17	YY1	chr2:58655160-58655590	SK-N-SH_RA	brain:	n/a	n/a
18	MAFK	chr2:58654892-58655274	HepG2	liver:	n/a	chr2:58655043-58655058
19	TCF12	chr2:58654781-58655414	A549	lung:	n/a	n/a
20	MAX	chr2:58654640-58655337	ECC-1	luminal epithelium:	n/a	n/a
21	STAT3	chr2:58655033-58655236	MCF10A-Er-Src	breast:	n/a	n/a
22	REST	chr2:58654447-58655271	A549	lung:	n/a	n/a
23	POLR2A	chr2:58654825-58655246	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr2:58654810-58655530	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZNF263	chr2:58654671-58655421	HEK293-T-REx	kidney:	n/a	n/a
26	TAF1	chr2:58654730-58655655	H1-hESC	embryonic stem cell:	n/a	n/a
27	E2F6	chr2:58654850-58655310	A549	lung:	n/a	chr2:58654865-58654874
28	RAD21	chr2:58655186-58655623	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr2:58654783-58657002	H1-neurons	neurons:	n/a	n/a
30	ATF2	chr2:58655084-58655478	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr2:58654544-58655421	A549	lung:	n/a	n/a
32	MAFF	chr2:58654903-58655222	HepG2	liver:	n/a	chr2:58655042-58655060
33	FOS	chr2:58654963-58655227	MCF10A-Er-Src	breast:	n/a	chr2:58655116-58655124
34	POLR2A	chr2:58654746-58655651	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr2:58654580-58655502	H1-hESC	embryonic stem cell:	n/a	n/a
36	E2F4	chr2:58654921-58655269	MCF10A-Er-Src	breast:	n/a	n/a
37	REST	chr2:58654492-58657191	H1-neurons	neurons:	n/a	chr2:58655773-58655780
38	FOS	chr2:58655054-58655253	MCF10A-Er-Src	breast:	n/a	chr2:58655116-58655124
39	CHD2	chr2:58654634-58655552	H1-hESC	embryonic stem cell:	n/a	n/a
40	SIN3A	chr2:58654663-58656619	H1-hESC	embryonic stem cell:	n/a	n/a
41	TAF1	chr2:58654701-58655654	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAZ	chr2:58655047-58655206	Hela-S3	cervix:	n/a	n/a
43	REST	chr2:58654480-58655278	ECC-1	luminal epithelium:	n/a	n/a
44	SP1	chr2:58654838-58655404	H1-hESC	embryonic stem cell:	n/a	n/a
45	E2F6	chr2:58654666-58655410	A549	lung:	n/a	chr2:58654865-58654874
46	MAFK	chr2:58654892-58655209	HepG2	liver:	n/a	chr2:58655043-58655058
47	TCF12	chr2:58654797-58655220	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr2:58654759-58656993	H1-neurons	neurons:	n/a	n/a
49	REST	chr2:58654461-58655222	HL-60	blood:	n/a	n/a
50	REST	chr2:58654589-58655209	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VRK2-5	chr2:58655168-58655253	ENSG00000233723

Variant related genes	Relation type
LINC01122	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755713	chr2:58653580-58782707	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3395723	chr2:58654473-58657321	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	esv3323812	chr2:58654573-58657096	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	esv3437316	chr2:58654648-58656446	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58654000-58655400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:58654200-58655200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:58654200-58655200	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr2:58654200-58655400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr2:58654200-58655400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:58654200-58656000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:58654400-58655200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:58654400-58656200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:58654400-58656200	Active TSS	Fetal Stomach	stomach
10	chr2:58654400-58656400	Active TSS	H1 Cell Line	embryonic stem cell
11	chr2:58654400-58656400	Active TSS	Fetal Brain Female	brain
12	chr2:58654400-58656600	Active TSS	NH-A	brain
13	chr2:58654400-58657000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:58654600-58655200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr2:58654600-58655200	Flanking Active TSS	Colon Smooth Muscle	Colon
16	chr2:58654600-58655200	Flanking Active TSS	Fetal Thymus	thymus
17	chr2:58654600-58655200	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
18	chr2:58654600-58655200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr2:58654600-58655200	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr2:58654600-58655200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
21	chr2:58654600-58655400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr2:58654600-58655400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
23	chr2:58654600-58655400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:58654600-58655400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr2:58654600-58655400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:58654600-58655400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
27	chr2:58654600-58655600	Active TSS	Hela-S3	cervix
28	chr2:58654600-58656000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:58654600-58656200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:58654600-58656200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:58654600-58656200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:58654600-58656200	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr2:58654600-58656200	Active TSS	Duodenum Mucosa	Duodenum
34	chr2:58654600-58656400	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr2:58654600-58656400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:58654600-58656400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:58654600-58656400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:58654600-58656400	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr2:58654600-58656400	Active TSS	Ovary	ovary
40	chr2:58654600-58656600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:58654600-58656600	Active TSS	H9 Cell Line	embryonic stem cell
42	chr2:58654600-58656800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr2:58654800-58655200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:58654800-58655200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
45	chr2:58654800-58655200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:58654800-58655200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:58654800-58655200	Flanking Active TSS	Colonic Mucosa	Colon
48	chr2:58654800-58655200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
49	chr2:58654800-58655200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
50	chr2:58654800-58655200	Flanking Active TSS	Gastric	stomach

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