Variant report

Variant	rs2945331
Chromosome Location	chr4:48606561-48606562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10517225	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727472	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498166	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505376	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12506770	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508327	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509766	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13110719	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13134960	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565218	0.91[ASN][1000 genomes]
rs16861344	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861347	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1702795	0.96[AMR][1000 genomes]
rs1702800	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1712762	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609740	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609761	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17656189	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17656212	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17656255	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1814784	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1850520	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28581223	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3107023	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235156	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4610307	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695388	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695389	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55730515	0.91[ASN][1000 genomes]
rs55884608	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55986500	0.91[ASN][1000 genomes]
rs57893769	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447646	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447648	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6825104	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852840	0.91[ASN][1000 genomes]
rs707719	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73814762	0.91[ASN][1000 genomes]
rs73814763	0.91[ASN][1000 genomes]
rs73814782	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73814798	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817807	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817808	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817809	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817826	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817827	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690681	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7693468	0.91[ASN][1000 genomes]
rs7695730	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695813	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776586	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776593	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776594	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776596	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776597	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs776598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776599	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs938790	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv966557	chr4:48577320-48618907	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48515800-48625000	Weak transcription	Hela-S3	cervix
2	chr4:48545200-48618200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:48557800-48622400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:48562800-48623200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:48563000-48637400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:48575200-48643000	Weak transcription	HSMMtube	muscle
7	chr4:48578600-48637000	Weak transcription	Esophagus	oesophagus
8	chr4:48579600-48615800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:48588400-48644600	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:48588800-48619600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:48590200-48614000	Weak transcription	Fetal Kidney	kidney
12	chr4:48590600-48627600	Weak transcription	Fetal Brain Female	brain
13	chr4:48590800-48619600	Weak transcription	Fetal Stomach	stomach
14	chr4:48590800-48619600	Weak transcription	Lung	lung
15	chr4:48591000-48618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:48591000-48619400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:48591200-48626600	Weak transcription	Ovary	ovary
18	chr4:48591400-48619600	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:48591800-48611800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr4:48591800-48619000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr4:48592200-48623200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:48592400-48620800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr4:48592600-48619600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr4:48593400-48614000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:48594000-48619600	Weak transcription	Aorta	Aorta
26	chr4:48594000-48622600	Weak transcription	Psoas Muscle	Psoas
27	chr4:48594000-48637400	Weak transcription	Spleen	Spleen
28	chr4:48596800-48619000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:48597000-48619400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:48597000-48620800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr4:48597200-48607800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr4:48597200-48613800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:48597200-48614000	Weak transcription	Brain Anterior Caudate	brain
34	chr4:48597400-48609600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr4:48597400-48619600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr4:48597600-48618600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:48597800-48614400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr4:48597800-48644600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr4:48598000-48606800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:48598000-48615400	Weak transcription	Fetal Thymus	thymus
41	chr4:48598000-48623000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:48598200-48634800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr4:48598600-48618800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr4:48598600-48619600	Weak transcription	GM12878-XiMat	blood
45	chr4:48598800-48619200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:48599400-48620400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:48600200-48608600	Strong transcription	Primary B cells from cord blood	blood
48	chr4:48600600-48608000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr4:48600600-48608600	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr4:48600600-48611000	Strong transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links