Variant report

Variant	rs4680348
Chromosome Location	chr3:156967195-156967196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10212545	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1027603	0.88[CHB][hapmap]
rs10451871	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10451916	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1046938	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10936085	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs11926167	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12496879	0.89[CHB][hapmap]
rs12629549	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12637518	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12696045	0.81[EUR][1000 genomes]
rs13061214	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs13081036	0.81[EUR][1000 genomes]
rs13081038	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13084070	0.81[EUR][1000 genomes]
rs13084522	0.81[EUR][1000 genomes]
rs1392799	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1403103	0.81[EUR][1000 genomes]
rs1500916	0.82[CHB][hapmap]
rs1500920	0.94[CHB][hapmap]
rs1500925	0.81[EUR][1000 genomes]
rs1546261	0.88[CHB][hapmap]
rs1568609	0.88[CHB][hapmap]
rs1568612	0.94[CHB][hapmap]
rs1587534	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1587535	0.81[EUR][1000 genomes]
rs1608127	0.81[EUR][1000 genomes]
rs16827350	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16827384	0.80[EUR][1000 genomes]
rs2047649	0.83[CHB][hapmap]
rs2088814	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2088815	0.88[CHB][hapmap]
rs2133952	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28384296	0.90[EUR][1000 genomes]
rs35217153	0.80[EUR][1000 genomes]
rs3749214	0.81[EUR][1000 genomes]
rs4368452	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4563363	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4632503	0.85[EUR][1000 genomes]
rs4680342	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs4680346	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4680351	0.94[CHB][hapmap]
rs4680359	0.80[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap]
rs6441114	0.84[EUR][1000 genomes]
rs6441121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6441122	0.80[AMR][1000 genomes]
rs6441123	0.81[EUR][1000 genomes]
rs67196056	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6767619	0.80[EUR][1000 genomes]
rs6773061	0.81[EUR][1000 genomes]
rs6776647	0.94[CHB][hapmap]
rs6780831	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6781991	0.82[EUR][1000 genomes]
rs6783595	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs6789178	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6801110	0.83[CHB][hapmap]
rs6808284	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6808457	0.80[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6809003	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs6809394	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs7614339	1.00[CHB][hapmap]
rs7620178	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7625059	0.81[EUR][1000 genomes]
rs7631556	0.89[CHB][hapmap]
rs7636185	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7638194	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7642179	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7647643	0.80[EUR][1000 genomes]
rs924517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9289978	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9289979	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9289980	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9811195	0.80[EUR][1000 genomes]
rs9827676	0.84[EUR][1000 genomes]
rs9831830	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9834756	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9834771	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9838724	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9848409	0.82[EUR][1000 genomes]
rs9849168	0.80[EUR][1000 genomes]
rs9857875	0.88[CHB][hapmap]
rs9861469	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9867618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9872340	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs988587	0.82[CHB][hapmap]
rs988588	0.88[CHB][hapmap]
rs9990136	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829766	chr3:156811536-157020551	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv877687	chr3:156924793-157044184	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156958400-156971200	Weak transcription	Primary B cells from cord blood	blood
2	chr3:156964800-156967200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:156964800-156968600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:156965000-156967200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:156965000-156967200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:156965000-156967600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:156965000-156968600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:156965200-156967200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:156965200-156967200	Enhancers	HSMM	muscle
10	chr3:156965200-156967200	Enhancers	Osteobl	bone
11	chr3:156965200-156967400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:156965200-156968200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:156965200-156968600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:156965600-156968000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:156965800-156967200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:156965800-156967200	Enhancers	Psoas Muscle	Psoas
17	chr3:156965800-156969200	Enhancers	Left Ventricle	heart
18	chr3:156966000-156967600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:156966000-156967600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr3:156966200-156968000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr3:156966200-156968000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:156966400-156967200	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr3:156966400-156967600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:156966400-156967800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:156966400-156968000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:156966400-156968200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr3:156966400-156968600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr3:156966600-156967200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:156966600-156967200	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr3:156966600-156967200	Enhancers	Gastric	stomach
31	chr3:156966600-156967200	Enhancers	Lung	lung
32	chr3:156966600-156967200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr3:156966600-156967600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:156966600-156967600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr3:156966600-156967600	Enhancers	Fetal Muscle Leg	muscle
36	chr3:156966600-156967600	Enhancers	Pancreas	Pancrea
37	chr3:156966600-156968000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr3:156966600-156968000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:156966600-156968000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:156966600-156968000	Enhancers	H9 Cell Line	embryonic stem cell
41	chr3:156966600-156968000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:156966600-156968200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr3:156966600-156968200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr3:156966800-156967200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:156966800-156967200	Enhancers	Fetal Muscle Trunk	muscle
46	chr3:156966800-156967200	Enhancers	Spleen	Spleen
47	chr3:156966800-156967400	Enhancers	Right Atrium	heart
48	chr3:156966800-156967400	Enhancers	NHDF-Ad	bronchial
49	chr3:156966800-156968000	Enhancers	Right Ventricle	heart
50	chr3:156967000-156967200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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