Variant report

Variant	rs1861464
Chromosome Location	chr2:171572580-171572581
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	HNF4A	chr2:171570620-171573709	HepG2	liver:	n/a	chr2:171572142-171572160 chr2:171572143-171572158
3	CEBPD	chr2:171570697-171573739	HepG2	liver:	n/a	n/a
4	NFIC	chr2:171570759-171572599	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	CHD2	chr2:171569669-171572660	HepG2	liver:	n/a	n/a
7	CBX3	chr2:171570404-171572616	K562	blood:	n/a	n/a
8	MXI1	chr2:171570562-171574086	HepG2	liver:	n/a	n/a
9	NFIC	chr2:171570706-171572595	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr2:171571617-171572725	ECC-1	luminal epithelium:	n/a	chr2:171572484-171572494 chr2:171572090-171572100
11	ZNF263	chr2:171571532-171572626	HEK293-T-REx	kidney:	n/a	chr2:171572354-171572363
12	POLR2A	chr2:171571720-171573222	HepG2	liver:	n/a	n/a
13	MAX	chr2:171567137-171574353	HepG2	liver:	n/a	chr2:171572484-171572494 chr2:171572090-171572100 chr2:171568528-171568538
14	POLR2A	chr2:171571577-171574339	HepG2	liver:	n/a	n/a
15	TAF1	chr2:171571636-171574190	HepG2	liver:	n/a	n/a
16	YY1	chr2:171571681-171574134	HepG2	liver:	n/a	chr2:171571931-171571945 chr2:171574026-171574038 chr2:171571977-171571986
17	HEY1	chr2:171566552-171576261	HepG2	liver:	n/a	chr2:171568717-171568732 chr2:171568723-171568738 chr2:171568409-171568424 chr2:171571862-171571877
18	TAF1	chr2:171571706-171573224	HepG2	liver:	n/a	n/a
19	TBP	chr2:171570730-171572906	HepG2	liver:	n/a	n/a
20	HEY1	chr2:171566435-171575595	HepG2	liver:	n/a	chr2:171568717-171568732 chr2:171568723-171568738 chr2:171568409-171568424 chr2:171571862-171571877
21	MAX	chr2:171571689-171572666	ECC-1	luminal epithelium:	n/a	chr2:171572484-171572494 chr2:171572090-171572100
22	POLR2A	chr2:171566818-171576833	HepG2	liver:	n/a	n/a
23	POLR2A	chr2:171571636-171576275	HepG2	liver:	n/a	n/a
24	CREB1	chr2:171567131-171573329	HepG2	liver:	n/a	n/a
25	POLR2A	chr2:171567743-171574223	HepG2	liver:	n/a	n/a
26	MAZ	chr2:171570965-171573691	HepG2	liver:	n/a	chr2:171572484-171572494 chr2:171572090-171572100
27	TCF12	chr2:171571575-171572622	ECC-1	luminal epithelium:	n/a	n/a
28	BHLHE40	chr2:171570903-171573031	HepG2	liver:	n/a	n/a
29	ZBTB7A	chr2:171570639-171572722	ECC-1	luminal epithelium:	n/a	chr2:171571636-171571650
30	SUZ12	chr2:171568999-171573118	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr2:171566701-171575246	HepG2	liver:	n/a	n/a
32	POLR2A	chr2:171571166-171577125	HepG2	liver:	n/a	n/a
33	HDAC2	chr2:171570718-171572986	HepG2	liver:	n/a	n/a
34	MYBL2	chr2:171570711-171573136	HepG2	liver:	n/a	n/a
35	NFIC	chr2:171570649-171573080	HepG2	liver:	n/a	n/a
36	POLR2A	chr2:171571417-171572930	HepG2	liver:	n/a	n/a
37	MBD4	chr2:171570740-171572670	HepG2	liver:	n/a	n/a
38	FOXA1	chr2:171570792-171572664	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	chr2:171570330..171572699-chr2:171627295..171629894,2	MCF-7	breast:
4	chr2:171571182..171573160-chr2:171784797..171786624,2	K562	blood:

Variant related genes	Relation type
LINC01124	TF binding region
ENSG00000239467	Chromatin interaction
ENSG00000234350	Chromatin interaction
ENSG00000115806	Chromatin interaction

Extended variants
information (count: 65 )
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[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1134626	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12463871	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12469431	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12472397	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][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];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1420381	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][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]
rs1990653	0.84[AMR][1000 genomes]
rs2356234	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34436957	0.82[AMR][1000 genomes]
rs35127716	0.89[AMR][1000 genomes]
rs35872782	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4667657	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4668308	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4668315	0.84[AMR][1000 genomes]
rs55693618	0.85[AMR][1000 genomes]
rs55799517	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55804482	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55923006	0.85[AMR][1000 genomes]
rs56024406	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56330225	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56364811	0.85[AMR][1000 genomes]
rs58919807	0.82[AMR][1000 genomes]
rs61246559	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62168365	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62168366	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62168367	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62168369	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62168370	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62168371	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62168373	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62168376	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62168396	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62168397	0.91[AMR][1000 genomes];0.87[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];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62169547	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62169548	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6712113	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6742220	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72885464	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72885487	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72887356	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72887361	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72887372	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7600585	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171569200-171573000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr2:171569400-171574400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr2:171569600-171574800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr2:171569600-171575600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:171569800-171572600	Flanking Active TSS	Liver	Liver
6	chr2:171570000-171572600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:171570000-171572600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
8	chr2:171570000-171572600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
9	chr2:171570000-171572600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
10	chr2:171570000-171573200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:171570000-171574000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
12	chr2:171570000-171575600	Bivalent/Poised TSS	HepG2	liver
13	chr2:171570000-171576200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr2:171570200-171572600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:171570200-171573800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr2:171570200-171574200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:171570200-171574400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr2:171570200-171576200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr2:171570400-171572600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
20	chr2:171570400-171572600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
21	chr2:171570400-171572600	Flanking Bivalent TSS/Enh	HMEC	breast
22	chr2:171570400-171573000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
23	chr2:171570400-171573400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr2:171570400-171574000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:171570400-171574200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:171570400-171576200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:171570600-171572600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
28	chr2:171570600-171572600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
29	chr2:171570600-171572600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
30	chr2:171570600-171573000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr2:171570600-171573400	Active TSS	Aorta	Aorta
32	chr2:171570600-171574000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
33	chr2:171570800-171572600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:171570800-171572600	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr2:171570800-171572600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
36	chr2:171570800-171574000	Bivalent/Poised TSS	HSMM	muscle
37	chr2:171571000-171572600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:171571000-171572600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:171571000-171572800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
40	chr2:171571000-171572800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
41	chr2:171571000-171572800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
42	chr2:171571200-171572600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
43	chr2:171571200-171572600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
44	chr2:171571200-171573000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
45	chr2:171571200-171573600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
46	chr2:171571400-171572600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
47	chr2:171571400-171572600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
48	chr2:171571400-171572600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
49	chr2:171571800-171572600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr2:171571800-171572600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links