Variant report

Variant	rs4273380
Chromosome Location	chr3:160950314-160950315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160939644..160941763-chr3:160948252..160952288,3	K562	blood:
2	chr3:160936365..160960187-chr3:161078472..161094658,51	MCF-7	breast:
3	chr3:160943734..160947750-chr3:160947797..160950520,6	MCF-7	breast:
4	chr3:160947675..160951914-chr3:161088475..161092431,5	MCF-7	breast:
5	chr3:160948054..160951882-chr3:160963118..160966934,5	K562	blood:
6	chr3:160949577..160952173-chr3:160986686..160988434,2	MCF-7	breast:
7	chr3:160949019..160950846-chr3:160964940..160966867,2	K562	blood:

Variant related genes	Relation type
ENSG00000196542	Chromatin interaction
ENSG00000271052	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1037888	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10804790	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1154701	0.86[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12493960	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13083229	0.82[CEU][hapmap]
rs1382427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1382428	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1478565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1478568	0.82[CEU][hapmap]
rs1599374	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1599376	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1599378	0.87[AMR][1000 genomes]
rs1599386	0.80[ASN][1000 genomes]
rs1600209	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1609688	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs163327	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs163328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs189270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1993891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2404340	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28515190	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs336541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336548	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336569	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336572	0.96[CEU][hapmap]
rs336577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336579	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336580	0.96[CEU][hapmap]
rs336583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs336593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs339101	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3849524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4290817	0.83[CEU][hapmap]
rs4350933	0.98[EUR][1000 genomes]
rs4370045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4414866	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4493448	0.98[EUR][1000 genomes]
rs4493449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4518145	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs456611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs457272	0.86[EUR][1000 genomes]
rs459697	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4597724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs460165	0.83[EUR][1000 genomes]
rs460508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4616689	0.80[ASN][1000 genomes]
rs462514	0.85[CEU][hapmap]
rs463928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs464766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs466399	0.83[EUR][1000 genomes]
rs4856714	0.83[CEU][hapmap]
rs4856739	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4856767	0.83[CEU][hapmap]
rs62279921	0.86[EUR][1000 genomes]
rs6441370	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6441371	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6441373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6762645	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6765269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6765270	0.87[AMR][1000 genomes]
rs6768818	0.80[EUR][1000 genomes]
rs6769642	0.80[ASN][1000 genomes]
rs6774276	0.86[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6774635	0.80[ASN][1000 genomes]
rs6775627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6789388	0.85[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6791213	0.82[CEU][hapmap]
rs6794601	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7611367	0.85[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7613358	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs7615592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7622047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7623206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7629987	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7631479	0.88[CEU][hapmap]
rs7632797	0.85[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7633186	0.85[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7638668	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7647327	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7652267	0.82[CEU][hapmap]
rs7653233	0.96[EUR][1000 genomes]
rs7653361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898680	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs898681	1.00[CHB][hapmap]
rs9290065	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9290073	0.97[EUR][1000 genomes]
rs9290074	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs975323	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9790314	0.95[EUR][1000 genomes]
rs980975	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs980976	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9815222	0.83[CEU][hapmap]
rs9821201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9831488	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9846756	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9847866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9848239	0.80[ASN][1000 genomes]
rs9850455	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs9870059	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9872514	1.00[CEU][hapmap];0.91[EUR][1000 genomes]

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	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1015063	chr3:160918307-161024070	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160939800-160995800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:160940000-160971600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:160940000-160977400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:160940200-160965400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:160940800-160956000	Weak transcription	Colonic Mucosa	Colon
6	chr3:160941000-160956000	Weak transcription	Esophagus	oesophagus
7	chr3:160941000-160969600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:160941000-160970200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:160941000-160974800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:160941000-160983000	Weak transcription	Spleen	Spleen
11	chr3:160941000-160984600	Weak transcription	Small Intestine	intestine
12	chr3:160941000-160993400	Weak transcription	Pancreas	Pancrea
13	chr3:160941200-160968600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:160941200-160969800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:160941200-160973400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:160941400-160971800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:160941600-160969800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:160941600-160975400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:160941800-160951200	Weak transcription	Brain Anterior Caudate	brain
20	chr3:160941800-160956000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr3:160941800-160975200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr3:160942000-160954400	Strong transcription	Placenta	Placenta
23	chr3:160942000-160964000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:160942200-160951200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:160942200-160973200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr3:160942400-160975200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr3:160942600-160953800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr3:160942600-160965400	Weak transcription	Gastric	stomach
29	chr3:160942600-160971800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:160942600-160972600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr3:160942600-160973400	Strong transcription	Fetal Thymus	thymus
32	chr3:160942600-160975000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr3:160942600-160976600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:160942800-160953200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr3:160942800-160953800	Strong transcription	Primary hematopoietic stem cells	blood
36	chr3:160942800-160954000	Strong transcription	Fetal Intestine Large	intestine
37	chr3:160942800-160971800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:160942800-160973800	Strong transcription	NH-A	brain
39	chr3:160942800-160978000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:160943000-160951000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr3:160943000-160951200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr3:160943000-160958800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:160943000-160961600	Strong transcription	K562	blood
44	chr3:160943000-160965400	Weak transcription	Right Ventricle	heart
45	chr3:160943200-160954200	Strong transcription	Primary B cells from cord blood	blood
46	chr3:160943200-160954200	Strong transcription	Adipose Nuclei	Adipose
47	chr3:160943400-160954200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr3:160943400-160955000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr3:160943600-160958000	Strong transcription	Dnd41	blood
50	chr3:160943600-160963200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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