Variant report

Variant	rs1134626
Chromosome Location	chr2:171573185-171573186
allele	G/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	POLR2A	chr2:171571679-171574265	HepG2	liver:	n/a	n/a
2	HNF4A	chr2:171570620-171573709	HepG2	liver:	n/a	chr2:171572142-171572160 chr2:171572143-171572158
3	EGR1	chr2:171572761-171573676	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPD	chr2:171570697-171573739	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	YY1	chr2:171572945-171573197	H1-hESC	embryonic stem cell:	n/a	n/a
7	MXI1	chr2:171570562-171574086	HepG2	liver:	n/a	n/a
8	MAX	chr2:171573027-171573804	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:171571720-171573222	HepG2	liver:	n/a	n/a
10	MAX	chr2:171567137-171574353	HepG2	liver:	n/a	chr2:171572484-171572494 chr2:171572090-171572100 chr2:171568528-171568538
11	POLR2A	chr2:171571577-171574339	HepG2	liver:	n/a	n/a
12	E2F6	chr2:171572637-171574298	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr2:171571636-171574190	HepG2	liver:	n/a	n/a
14	MAX	chr2:171572870-171574256	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr2:171571681-171574134	HepG2	liver:	n/a	chr2:171571931-171571945 chr2:171574026-171574038 chr2:171571977-171571986
16	HEY1	chr2:171566552-171576261	HepG2	liver:	n/a	chr2:171568717-171568732 chr2:171568723-171568738 chr2:171568409-171568424 chr2:171571862-171571877
17	MYBL2	chr2:171573173-171574324	HepG2	liver:	n/a	n/a
18	TAF1	chr2:171571706-171573224	HepG2	liver:	n/a	n/a
19	HEY1	chr2:171566435-171575595	HepG2	liver:	n/a	chr2:171568717-171568732 chr2:171568723-171568738 chr2:171568409-171568424 chr2:171571862-171571877
20	E2F6	chr2:171572880-171574187	H1-hESC	embryonic stem cell:	n/a	n/a
21	HDAC2	chr2:171573157-171573860	HepG2	liver:	n/a	n/a
22	EGR1	chr2:171572791-171573323	K562	blood:	n/a	n/a
23	POLR2A	chr2:171566818-171576833	HepG2	liver:	n/a	n/a
24	POLR2A	chr2:171571636-171576275	HepG2	liver:	n/a	n/a
25	CREB1	chr2:171567131-171573329	HepG2	liver:	n/a	n/a
26	POLR2A	chr2:171567743-171574223	HepG2	liver:	n/a	n/a
27	MAZ	chr2:171570965-171573691	HepG2	liver:	n/a	chr2:171572484-171572494 chr2:171572090-171572100
28	FOXA1	chr2:171573175-171573702	HepG2	liver:	n/a	n/a
29	POLR2A	chr2:171566701-171575246	HepG2	liver:	n/a	n/a
30	POLR2A	chr2:171571166-171577125	HepG2	liver:	n/a	n/a
31	MAX	chr2:171572847-171574289	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr2:171572904-171573879	HepG2	liver:	n/a	n/a
33	HNF4A	chr2:171573158-171573717	HepG2	liver:	n/a	n/a
34	EP300	chr2:171573154-171573716	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	chr2:171568787..171573894-chr2:171626202..171629385,10	K562	blood:

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

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1065651	0.84[AMR][1000 genomes]
rs1110002	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12463871	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12469431	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12472397	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1362488	0.84[AMR][1000 genomes]
rs1420378	0.82[AMR][1000 genomes]
rs1420379	0.82[AMR][1000 genomes]
rs1420380	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1420381	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17694562	0.84[AMR][1000 genomes]
rs17694708	0.85[AMR][1000 genomes]
rs17751035	0.84[AMR][1000 genomes]
rs17751072	0.84[AMR][1000 genomes]
rs17751234	0.84[AMR][1000 genomes]
rs1861464	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1990653	0.84[AMR][1000 genomes]
rs2356234	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34436957	0.82[AMR][1000 genomes]
rs35127716	0.89[AMR][1000 genomes]
rs35872782	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4667657	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4668308	0.88[EUR][1000 genomes]
rs4668315	0.84[AMR][1000 genomes]
rs55693618	0.85[AMR][1000 genomes]
rs55799517	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55804482	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55923006	0.85[AMR][1000 genomes]
rs56024406	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56330225	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56364811	0.85[AMR][1000 genomes]
rs58919807	0.82[AMR][1000 genomes]
rs61246559	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62168365	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62168366	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62168367	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62168369	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62168370	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62168371	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62168373	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62168376	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62168396	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62168397	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62168399	0.84[AMR][1000 genomes]
rs62168400	0.84[AMR][1000 genomes]
rs62168401	0.84[AMR][1000 genomes]
rs62168446	0.89[AMR][1000 genomes]
rs62168448	0.89[AMR][1000 genomes]
rs62169546	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62169547	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62169548	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6712113	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6742220	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72885464	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72885487	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72887356	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72887361	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72887372	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7600585	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv583609	chr2:171568633-171573309	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv583610	chr2:171568633-171573529	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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:89 , 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	chr2:171570000-171573200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:171570000-171574000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
6	chr2:171570000-171575600	Bivalent/Poised TSS	HepG2	liver
7	chr2:171570000-171576200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr2:171570200-171573800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr2:171570200-171574200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:171570200-171574400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr2:171570200-171576200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr2:171570400-171573400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr2:171570400-171574000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:171570400-171574200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:171570400-171576200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:171570600-171573400	Active TSS	Aorta	Aorta
17	chr2:171570600-171574000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
18	chr2:171570800-171574000	Bivalent/Poised TSS	HSMM	muscle
19	chr2:171571200-171573600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
20	chr2:171571800-171573400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:171571800-171573600	Bivalent Enhancer	Fetal Brain Male	brain
22	chr2:171571800-171574200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:171571800-171574200	Bivalent Enhancer	Fetal Heart	heart
24	chr2:171571800-171575200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:171571800-171577000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:171572200-171573200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:171572200-171574400	Bivalent Enhancer	Stomach Mucosa	stomach
28	chr2:171572400-171573200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
29	chr2:171572400-171573400	Bivalent/Poised TSS	Fetal Brain Female	brain
30	chr2:171572400-171573400	Bivalent/Poised TSS	Psoas Muscle	Psoas
31	chr2:171572400-171573600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr2:171572400-171573800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:171572400-171574000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:171572400-171574200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
35	chr2:171572400-171574200	Bivalent Enhancer	Spleen	Spleen
36	chr2:171572400-171574800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:171572400-171575000	Bivalent Enhancer	Fetal Thymus	thymus
38	chr2:171572600-171573200	Enhancers	Primary B cells from cord blood	blood
39	chr2:171572600-171573200	Active TSS	Esophagus	oesophagus
40	chr2:171572600-171573200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr2:171572600-171573600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:171572600-171573600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
43	chr2:171572600-171573600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
44	chr2:171572600-171573600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
45	chr2:171572600-171573600	Bivalent Enhancer	Left Ventricle	heart
46	chr2:171572600-171573600	Active TSS	Rectal Smooth Muscle	rectum
47	chr2:171572600-171573600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
48	chr2:171572600-171573800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:171572600-171573800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
50	chr2:171572600-171573800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood

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