Variant report

Variant	rs558703157
Chromosome Location	chr2:171573965-171573966
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	POLR2A	chr2:171571679-171574265	HepG2	liver:	n/a	n/a
2	RCOR1	chr2:171573359-171573989	HepG2	liver:	n/a	n/a
3	MAX	chr2:171567494-171574371	HepG2	liver:	n/a	chr2:171572484-171572494 chr2:171572090-171572100 chr2:171568528-171568538
4	MXI1	chr2:171570562-171574086	HepG2	liver:	n/a	n/a
5	MBD4	chr2:171573282-171575454	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:171573902-171574124	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr2:171567137-171574353	HepG2	liver:	n/a	chr2:171572484-171572494 chr2:171572090-171572100 chr2:171568528-171568538
8	POLR2A	chr2:171571577-171574339	HepG2	liver:	n/a	n/a
9	E2F6	chr2:171572637-171574298	H1-hESC	embryonic stem cell:	n/a	n/a
10	TAF1	chr2:171571636-171574190	HepG2	liver:	n/a	n/a
11	MAX	chr2:171572870-171574256	H1-hESC	embryonic stem cell:	n/a	n/a
12	YY1	chr2:171571681-171574134	HepG2	liver:	n/a	chr2:171571931-171571945 chr2:171574026-171574038 chr2:171571977-171571986
13	HEY1	chr2:171566552-171576261	HepG2	liver:	n/a	chr2:171568717-171568732 chr2:171568723-171568738 chr2:171568409-171568424 chr2:171571862-171571877
14	CTBP2	chr2:171573397-171574139	H1-hESC	embryonic stem cell:	n/a	n/a
15	BHLHE40	chr2:171573270-171574024	HepG2	liver:	n/a	n/a
16	MYBL2	chr2:171573173-171574324	HepG2	liver:	n/a	n/a
17	HEY1	chr2:171566435-171575595	HepG2	liver:	n/a	chr2:171568717-171568732 chr2:171568723-171568738 chr2:171568409-171568424 chr2:171571862-171571877
18	REST	chr2:171573247-171573966	HepG2	liver:	n/a	n/a
19	E2F6	chr2:171572880-171574187	H1-hESC	embryonic stem cell:	n/a	n/a
20	MBD4	chr2:171573317-171574225	HepG2	liver:	n/a	n/a
21	CTCF	chr2:171573222-171573989	SK-N-SH	brain:	n/a	n/a
22	YY1	chr2:171573239-171574185	H1-hESC	embryonic stem cell:	n/a	chr2:171574026-171574038
23	POLR2A	chr2:171566818-171576833	HepG2	liver:	n/a	n/a
24	POLR2A	chr2:171571636-171576275	HepG2	liver:	n/a	n/a
25	POLR2A	chr2:171567743-171574223	HepG2	liver:	n/a	n/a
26	RAD21	chr2:171573874-171574178	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAF1	chr2:171573279-171574070	HepG2	liver:	n/a	n/a
28	POLR2A	chr2:171566701-171575246	HepG2	liver:	n/a	n/a
29	POLR2A	chr2:171571166-171577125	HepG2	liver:	n/a	n/a
30	MAX	chr2:171572847-171574289	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr2:171573940-171574090	Caco-2	colon:	n/a	n/a
32	POLR2A	chr2:171573224-171574188	HepG2	liver:	n/a	n/a
33	SUZ12	chr2:171573448-171574233	H1-hESC	embryonic stem cell:	n/a	n/a
34	YY1	chr2:171573873-171574207	H1-hESC	embryonic stem cell:	n/a	chr2:171574026-171574038
35	MYBL2	chr2:171573232-171574048	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171571171..171574868-chr2:171624858..171628652,5	K562	blood:
2	chr2:171573568..171575819-chr2:171620402..171623627,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC007405.2.1-2	chr2:171573847-171574032	NONHSAT075413

Variant related genes	Relation type
LINC01124	TF binding region
ENSG00000234350	Chromatin interaction
ENSG00000239467	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875409	chr2:171565376-171577859	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv821786	chr2:171567780-171574707	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv15608	chr2:171569890-171574062	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3324673	chr2:171572331-171574879	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1800387	chr2:171572702-171573980	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1801543	chr2:171572702-171573980	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1840021	chr2:171572702-171573980	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171569400-171574400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr2:171569600-171574800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr2:171569600-171575600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:171570000-171574000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
5	chr2:171570000-171575600	Bivalent/Poised TSS	HepG2	liver
6	chr2:171570000-171576200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr2:171570200-171574200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:171570200-171574400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr2:171570200-171576200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr2:171570400-171574000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:171570400-171574200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:171570400-171576200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:171570600-171574000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
14	chr2:171570800-171574000	Bivalent/Poised TSS	HSMM	muscle
15	chr2:171571800-171574200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:171571800-171574200	Bivalent Enhancer	Fetal Heart	heart
17	chr2:171571800-171575200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:171571800-171577000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:171572200-171574400	Bivalent Enhancer	Stomach Mucosa	stomach
20	chr2:171572400-171574000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:171572400-171574200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
22	chr2:171572400-171574200	Bivalent Enhancer	Spleen	Spleen
23	chr2:171572400-171574800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:171572400-171575000	Bivalent Enhancer	Fetal Thymus	thymus
25	chr2:171572600-171574000	Enhancers	Liver	Liver
26	chr2:171572600-171574000	Enhancers	Pancreas	Pancrea
27	chr2:171572600-171574000	Active TSS	Right Atrium	heart
28	chr2:171572600-171574200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
29	chr2:171572800-171574400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr2:171572800-171574600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:171573000-171574200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:171573200-171574200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
33	chr2:171573200-171574200	Bivalent Enhancer	Lung	lung
34	chr2:171573200-171574200	Bivalent/Poised TSS	Right Ventricle	heart
35	chr2:171573400-171574000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
36	chr2:171573400-171574000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
37	chr2:171573400-171574000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:171573400-171574000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr2:171573400-171574000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
40	chr2:171573400-171574000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
41	chr2:171573400-171574200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
42	chr2:171573600-171574000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:171573600-171574000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
44	chr2:171573600-171574000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
45	chr2:171573600-171574000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:171573600-171574000	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
47	chr2:171573600-171574000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
48	chr2:171573600-171574000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
49	chr2:171573600-171574000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
50	chr2:171573600-171574000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum

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