Variant report

Variant	rs138180926
Chromosome Location	chr2:171573796-171573797
allele	A/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	TCF12	chr2:171573354-171573857	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:171571679-171574265	HepG2	liver:	n/a	n/a
3	MYC	chr2:171573532-171573805	H1-hESC	embryonic stem cell:	n/a	n/a
4	RCOR1	chr2:171573359-171573989	HepG2	liver:	n/a	n/a
5	MAX	chr2:171567494-171574371	HepG2	liver:	n/a	chr2:171572484-171572494 chr2:171572090-171572100 chr2:171568528-171568538
6	MXI1	chr2:171570562-171574086	HepG2	liver:	n/a	n/a
7	MBD4	chr2:171573282-171575454	HepG2	liver:	n/a	n/a
8	MAX	chr2:171573027-171573804	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:171573696-171573843	MCF-7	breast:	n/a	n/a
10	MAX	chr2:171567137-171574353	HepG2	liver:	n/a	chr2:171572484-171572494 chr2:171572090-171572100 chr2:171568528-171568538
11	POLR2A	chr2:171573632-171573809	ProgFib	skin:	n/a	n/a
12	POLR2A	chr2:171571577-171574339	HepG2	liver:	n/a	n/a
13	E2F6	chr2:171572637-171574298	H1-hESC	embryonic stem cell:	n/a	n/a
14	TEAD4	chr2:171573403-171573820	H1-hESC	embryonic stem cell:	n/a	n/a
15	TAF1	chr2:171571636-171574190	HepG2	liver:	n/a	n/a
16	MAX	chr2:171572870-171574256	H1-hESC	embryonic stem cell:	n/a	n/a
17	YY1	chr2:171571681-171574134	HepG2	liver:	n/a	chr2:171571931-171571945 chr2:171574026-171574038 chr2:171571977-171571986
18	HEY1	chr2:171566552-171576261	HepG2	liver:	n/a	chr2:171568717-171568732 chr2:171568723-171568738 chr2:171568409-171568424 chr2:171571862-171571877
19	CTBP2	chr2:171573397-171574139	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr2:171573680-171573830	HVMF	connective:	n/a	n/a
21	BHLHE40	chr2:171573270-171574024	HepG2	liver:	n/a	n/a
22	MYBL2	chr2:171573173-171574324	HepG2	liver:	n/a	n/a
23	MAX	chr2:171573427-171573944	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr2:171573680-171573830	AG04449	skin:	n/a	n/a
25	MAX	chr2:171573353-171573863	A549	lung:	n/a	n/a
26	HEY1	chr2:171566435-171575595	HepG2	liver:	n/a	chr2:171568717-171568732 chr2:171568723-171568738 chr2:171568409-171568424 chr2:171571862-171571877
27	REST	chr2:171573247-171573966	HepG2	liver:	n/a	n/a
28	E2F6	chr2:171572880-171574187	H1-hESC	embryonic stem cell:	n/a	n/a
29	MBD4	chr2:171573317-171574225	HepG2	liver:	n/a	n/a
30	CTCF	chr2:171573700-171573850	HRPEpiC	eye:	n/a	n/a
31	HDAC2	chr2:171573157-171573860	HepG2	liver:	n/a	n/a
32	CTCF	chr2:171573700-171573850	GM12866	blood:	n/a	n/a
33	CTCF	chr2:171573222-171573989	SK-N-SH	brain:	n/a	n/a
34	YY1	chr2:171573239-171574185	H1-hESC	embryonic stem cell:	n/a	chr2:171574026-171574038
35	RXRA	chr2:171573362-171573870	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr2:171566818-171576833	HepG2	liver:	n/a	n/a
37	POLR2A	chr2:171571636-171576275	HepG2	liver:	n/a	n/a
38	POLR2A	chr2:171567743-171574223	HepG2	liver:	n/a	n/a
39	USF1	chr2:171573374-171573852	H1-hESC	embryonic stem cell:	n/a	n/a
40	TEAD4	chr2:171573408-171573834	H1-hESC	embryonic stem cell:	n/a	n/a
41	NFIC	chr2:171573342-171573913	HepG2	liver:	n/a	n/a
42	TCF12	chr2:171573433-171573796	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr2:171573740-171573890	BJ	skin:	n/a	n/a
44	TAF1	chr2:171573279-171574070	HepG2	liver:	n/a	n/a
45	POLR2A	chr2:171566701-171575246	HepG2	liver:	n/a	n/a
46	SMC3	chr2:171573304-171573827	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr2:171571166-171577125	HepG2	liver:	n/a	n/a
48	MAX	chr2:171572847-171574289	H1-hESC	embryonic stem cell:	n/a	n/a
49	E2F6	chr2:171573334-171573853	A549	lung:	n/a	n/a
50	POLR2A	chr2:171573224-171574188	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:171571171..171574868-chr2:171624858..171628652,5	K562	blood:
2	chr2:171568787..171573894-chr2:171626202..171629385,10	K562	blood:
3	chr2:171573568..171575819-chr2:171620402..171623627,3	K562	blood:

Variant related genes	Relation type
LINC01124	TF binding region
ENSG00000239467	Chromatin interaction
ENSG00000234350	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:107 , 50 per page) page: 1 2 3

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	chr2:171570200-171573800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:171570200-171574200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:171570200-171574400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr2:171570200-171576200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr2:171570400-171574000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:171570400-171574200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:171570400-171576200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:171570600-171574000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
15	chr2:171570800-171574000	Bivalent/Poised TSS	HSMM	muscle
16	chr2:171571800-171574200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:171571800-171574200	Bivalent Enhancer	Fetal Heart	heart
18	chr2:171571800-171575200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:171571800-171577000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:171572200-171574400	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr2:171572400-171573800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:171572400-171574000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:171572400-171574200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
24	chr2:171572400-171574200	Bivalent Enhancer	Spleen	Spleen
25	chr2:171572400-171574800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:171572400-171575000	Bivalent Enhancer	Fetal Thymus	thymus
27	chr2:171572600-171573800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:171572600-171573800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
29	chr2:171572600-171573800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
30	chr2:171572600-171573800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
31	chr2:171572600-171573800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
32	chr2:171572600-171574000	Enhancers	Liver	Liver
33	chr2:171572600-171574000	Enhancers	Pancreas	Pancrea
34	chr2:171572600-171574000	Active TSS	Right Atrium	heart
35	chr2:171572600-171574200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr2:171572800-171574400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr2:171572800-171574600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:171573000-171573800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:171573000-171573800	Bivalent/Poised TSS	Ovary	ovary
40	chr2:171573000-171573800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
41	chr2:171573000-171573800	Flanking Bivalent TSS/Enh	Thymus	Thymus
42	chr2:171573000-171574200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:171573200-171573800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:171573200-171573800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
45	chr2:171573200-171574200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
46	chr2:171573200-171574200	Bivalent Enhancer	Lung	lung
47	chr2:171573200-171574200	Bivalent/Poised TSS	Right Ventricle	heart
48	chr2:171573400-171573800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:171573400-171573800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:171573400-171573800	Bivalent/Poised TSS	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links