Variant report

Variant	rs10191665
Chromosome Location	chr2:73248750-73248751
allele	C/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	USF2	chr2:73248618-73248818	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:73247857-73249154	HepG2	liver:	n/a	n/a
3	RXRA	chr2:73248574-73248881	HepG2	liver:	n/a	chr2:73248668-73248681 chr2:73248668-73248681 chr2:73248771-73248784 chr2:73248668-73248681 chr2:73248667-73248681
4	SMC3	chr2:73247957-73248789	HepG2	liver:	n/a	n/a
5	NFIC	chr2:73248561-73248974	HepG2	liver:	n/a	n/a
6	FOSL2	chr2:73248474-73248990	HepG2	liver:	n/a	chr2:73248703-73248712
7	USF1	chr2:73248595-73248811	HepG2	liver:	n/a	n/a
8	NFIC	chr2:73248449-73248948	HepG2	liver:	n/a	n/a
9	MAX	chr2:73248671-73248808	HepG2	liver:	n/a	n/a
10	JUND	chr2:73248532-73248898	HepG2	liver:	n/a	chr2:73248703-73248712
11	HNF4A	chr2:73248583-73248846	HepG2	liver:	n/a	chr2:73248668-73248681 chr2:73248667-73248682 chr2:73248668-73248682
12	CEBPB	chr2:73248085-73248853	HepG2	liver:	n/a	n/a
13	FOXA1	chr2:73248540-73249035	HepG2	liver:	n/a	chr2:73248730-73248742
14	CREB1	chr2:73248566-73249324	HepG2	liver:	n/a	n/a
15	MBD4	chr2:73248532-73248942	HepG2	liver:	n/a	n/a
16	FOXA1	chr2:73248520-73248958	HepG2	liver:	n/a	chr2:73248730-73248742
17	ELF1	chr2:73248548-73248788	HepG2	liver:	n/a	chr2:73248722-73248733
18	BHLHE40	chr2:73247763-73248888	HepG2	liver:	n/a	n/a
19	FOSL2	chr2:73247904-73248919	HepG2	liver:	n/a	chr2:73248703-73248712
20	MYBL2	chr2:73248488-73249007	HepG2	liver:	n/a	n/a
21	SP1	chr2:73247886-73248999	HepG2	liver:	n/a	n/a
22	NR2F2	chr2:73247804-73248987	MCF-7	breast:	n/a	n/a
23	FOXA2	chr2:73247861-73249086	A549	lung:	n/a	chr2:73248730-73248742
24	RAD21	chr2:73248591-73248983	HepG2	liver:	n/a	n/a
25	FOXA2	chr2:73248534-73248894	HepG2	liver:	n/a	chr2:73248730-73248742
26	EP300	chr2:73248439-73248932	HepG2	liver:	n/a	n/a
27	ZBTB7A	chr2:73248563-73248959	HepG2	liver:	n/a	n/a
28	FOXA2	chr2:73247878-73249290	HepG2	liver:	n/a	chr2:73248730-73248742
29	ELF1	chr2:73248551-73248876	HepG2	liver:	n/a	chr2:73248722-73248733
30	JUN	chr2:73248561-73248858	HepG2	liver:	n/a	chr2:73248702-73248715 chr2:73248703-73248712
31	FOXA2	chr2:73248024-73248936	A549	lung:	n/a	chr2:73248730-73248742
32	ZBTB7A	chr2:73248631-73248848	HepG2	liver:	n/a	n/a
33	FOXA1	chr2:73248532-73249040	HepG2	liver:	n/a	chr2:73248730-73248742
34	JUND	chr2:73248594-73248863	HepG2	liver:	n/a	chr2:73248703-73248712
35	POLR2A	chr2:73248703-73249091	HepG2	liver:	n/a	n/a
36	MXI1	chr2:73248616-73249078	HepG2	liver:	n/a	n/a
37	ARID3A	chr2:73248668-73248996	HepG2	liver:	n/a	n/a
38	JUND	chr2:73248037-73248903	HepG2	liver:	n/a	chr2:73248703-73248712
39	MYBL2	chr2:73247817-73249032	HepG2	liver:	n/a	n/a
40	FOXA1	chr2:73248524-73248980	HepG2	liver:	n/a	chr2:73248730-73248742
41	USF1	chr2:73248553-73248834	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:73243618..73245533-chr2:73248361..73249951,2	K562	blood:
2	chr2:73248061..73250932-chr2:73261884..73263606,2	MCF-7	breast:
3	chr2:73247880..73249549-chr2:73297972..73299902,3	MCF-7	breast:

Variant related genes	Relation type
SFXN5	TF binding region
ENSG00000144040	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10166058	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10166220	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10176939	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10177159	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10178854	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10178944	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10180720	0.84[EUR][1000 genomes]
rs10189744	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10190861	0.81[EUR][1000 genomes]
rs10192077	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10197305	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10209859	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1036512	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12233055	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13385994	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13388404	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13390072	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13393567	0.83[EUR][1000 genomes]
rs13424057	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13427947	0.82[EUR][1000 genomes]
rs1370383	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17008571	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17008611	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17008631	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2421098	0.89[ASN][1000 genomes]
rs4144837	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4514897	0.85[ASN][1000 genomes]
rs4527230	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55974516	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57536428	0.84[EUR][1000 genomes]
rs57937746	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58993488	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61161134	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61650913	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62147721	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62147724	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62147732	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6546794	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6546796	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546797	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709938	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6710362	0.97[ASN][1000 genomes]
rs6710739	0.83[EUR][1000 genomes]
rs6713655	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6717553	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719333	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6726940	0.96[EUR][1000 genomes]
rs6727269	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6732369	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6750069	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6754779	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6754858	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6757131	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6759243	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6759733	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs732178	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs732179	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs732180	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7566904	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7570876	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7578757	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7579770	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7580216	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7597032	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs893258	0.81[ASN][1000 genomes]
rs893259	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9309467	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73194200-73248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:73207800-73263200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:73211000-73258400	Weak transcription	Colonic Mucosa	Colon
4	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
5	chr2:73215800-73263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:73216200-73248800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:73217400-73249000	Weak transcription	Ovary	ovary
8	chr2:73220600-73249000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:73220600-73263200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:73221200-73263000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:73223200-73274600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:73224600-73261200	Weak transcription	Brain Substantia Nigra	brain
13	chr2:73226200-73248800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:73227600-73249000	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:73228000-73248800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:73233200-73270800	Weak transcription	Brain Germinal Matrix	brain
17	chr2:73236000-73264200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:73236400-73248800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:73236600-73248800	Weak transcription	Fetal Brain Female	brain
20	chr2:73236600-73249000	Weak transcription	Left Ventricle	heart
21	chr2:73236800-73248800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:73236800-73258800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:73237000-73248800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:73237000-73248800	Weak transcription	Aorta	Aorta
25	chr2:73237000-73248800	Weak transcription	Esophagus	oesophagus
26	chr2:73237000-73248800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:73237000-73248800	Weak transcription	Lung	lung
28	chr2:73237000-73249000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:73237000-73249000	Weak transcription	Adipose Nuclei	Adipose
30	chr2:73237000-73249000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:73239400-73249000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:73245800-73248800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr2:73246000-73250400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr2:73246200-73249400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:73246400-73253200	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:73246400-73263400	Weak transcription	K562	blood
37	chr2:73246400-73263600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:73246400-73277400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:73246600-73283800	Weak transcription	Hela-S3	cervix
40	chr2:73247000-73248800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:73247000-73248800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:73247000-73251000	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:73247400-73249400	Strong transcription	Pancreas	Pancrea
44	chr2:73247400-73249600	Strong transcription	Brain Cingulate Gyrus	brain
45	chr2:73247400-73249800	Strong transcription	Right Ventricle	heart
46	chr2:73247400-73250000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:73247400-73250000	Strong transcription	Spleen	Spleen
48	chr2:73247400-73250000	Strong transcription	HSMMtube	muscle
49	chr2:73247400-73250200	Strong transcription	Fetal Intestine Small	intestine
50	chr2:73247400-73250200	Strong transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links