Variant report

Variant	rs16861344
Chromosome Location	chr4:48518944-48518945
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48518871..48522013-chr4:48524395..48528257,3	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10517225	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727472	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11932126	0.86[EUR][1000 genomes]
rs12498166	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505376	0.81[ASN][1000 genomes]
rs12506770	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508327	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509766	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs13110719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13134960	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565218	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1565221	0.86[EUR][1000 genomes]
rs16861347	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1702795	0.83[AMR][1000 genomes]
rs1702800	1.00[ASN][1000 genomes]
rs1712762	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17609521	0.86[EUR][1000 genomes]
rs17609535	0.86[EUR][1000 genomes]
rs17609556	0.86[EUR][1000 genomes]
rs17609614	0.86[EUR][1000 genomes]
rs17609740	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609761	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17655725	0.86[EUR][1000 genomes]
rs17655741	0.86[EUR][1000 genomes]
rs17656189	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17656212	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17656255	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1814784	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1850520	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28581223	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2945331	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3107023	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235156	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4610307	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695378	0.81[EUR][1000 genomes]
rs4695388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695389	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55730515	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55884608	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55986500	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56932035	0.86[EUR][1000 genomes]
rs57676508	0.86[EUR][1000 genomes]
rs57893769	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58038882	0.86[EUR][1000 genomes]
rs58244627	0.86[EUR][1000 genomes]
rs58707818	0.86[EUR][1000 genomes]
rs60891069	0.86[EUR][1000 genomes]
rs6447646	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447648	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6810911	0.86[EUR][1000 genomes]
rs6825104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847014	0.86[EUR][1000 genomes]
rs6852840	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs707719	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73814762	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73814763	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73814782	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73814798	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817807	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817808	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817809	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817826	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817827	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690681	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7693468	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7695730	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695813	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776582	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776586	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776593	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776596	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776597	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs776598	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776599	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs938790	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48493600-48523000	Weak transcription	Right Ventricle	heart
2	chr4:48495400-48523000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:48496200-48540600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:48497000-48521600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:48498200-48539600	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr4:48498200-48540000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:48498600-48593000	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr4:48499000-48578800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:48499000-48589400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr4:48499200-48540000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:48499400-48527400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:48499600-48581400	Strong transcription	Dnd41	blood
13	chr4:48499800-48540000	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr4:48500200-48588800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr4:48500400-48540000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:48501000-48538800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr4:48501400-48578600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:48501600-48523000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:48503400-48520400	Weak transcription	NHLF	lung
20	chr4:48504400-48575400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:48504600-48534400	Strong transcription	Liver	Liver
22	chr4:48505200-48575400	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr4:48505400-48538600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:48505400-48540000	Strong transcription	HSMM	muscle
25	chr4:48506000-48538800	Strong transcription	Duodenum Mucosa	Duodenum
26	chr4:48507200-48564000	Strong transcription	Fetal Thymus	thymus
27	chr4:48507400-48536200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:48507600-48519200	Strong transcription	Stomach Smooth Muscle	stomach
29	chr4:48507600-48568600	Strong transcription	Primary T cells from cord blood	blood
30	chr4:48507800-48539400	Strong transcription	Primary B cells from cord blood	blood
31	chr4:48508800-48538800	Strong transcription	Primary hematopoietic stem cells	blood
32	chr4:48509000-48519000	Strong transcription	Colonic Mucosa	Colon
33	chr4:48509400-48540000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr4:48510600-48525000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:48510600-48538800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:48512200-48523000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr4:48512200-48523200	Weak transcription	Fetal Heart	heart
38	chr4:48512200-48525600	Strong transcription	Brain Anterior Caudate	brain
39	chr4:48512200-48542400	Weak transcription	Stomach Mucosa	stomach
40	chr4:48512200-48545000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:48512400-48520400	Weak transcription	Fetal Intestine Small	intestine
42	chr4:48512400-48520600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:48512400-48520600	Weak transcription	Spleen	Spleen
44	chr4:48512400-48523000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:48512400-48533400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:48512600-48520400	Weak transcription	Fetal Stomach	stomach
47	chr4:48513000-48520400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr4:48513000-48520400	Weak transcription	Pancreas	Pancrea
49	chr4:48513000-48522000	Weak transcription	Small Intestine	intestine
50	chr4:48513400-48520400	Weak transcription	Aorta	Aorta

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