Variant report

Variant	rs34161748
Chromosome Location	chr16:71727958-71727959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71724424..71728280-chr16:71728369..71732194,4	MCF-7	breast:

Extended variants
information (count: 150 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10220961	0.82[ASN][1000 genomes]
rs1035545	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10500559	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1058747	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10775326	0.88[ASN][1000 genomes]
rs11075889	0.81[EUR][1000 genomes]
rs11075891	0.83[AMR][1000 genomes]
rs11075892	0.82[EUR][1000 genomes]
rs11075895	0.88[ASN][1000 genomes]
rs11075900	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11075902	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11539980	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11641873	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11643690	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11645467	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11646635	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11646748	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11648240	0.80[EUR][1000 genomes]
rs11648674	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11859729	0.90[ASN][1000 genomes]
rs11862798	0.81[EUR][1000 genomes]
rs11865683	0.94[ASN][1000 genomes]
rs12051443	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12051449	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12051506	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12149092	0.82[ASN][1000 genomes]
rs12444484	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12447856	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12448226	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12597065	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12598902	0.82[EUR][1000 genomes]
rs12920243	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12922859	0.83[ASN][1000 genomes]
rs12923644	0.95[ASN][1000 genomes]
rs12924258	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12925587	0.86[EUR][1000 genomes]
rs12926987	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12927320	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12928187	0.89[ASN][1000 genomes]
rs12930206	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12932850	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12935426	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13380425	0.95[ASN][1000 genomes]
rs1392483	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1392487	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1582589	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2010428	0.86[ASN][1000 genomes]
rs2032920	0.81[EUR][1000 genomes]
rs2036337	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2036338	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2113222	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2270829	0.83[ASN][1000 genomes]
rs2270830	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2270831	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2270832	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2278031	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2303224	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2303225	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2334879	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2334883	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2334884	0.82[AMR][1000 genomes]
rs2335716	0.95[ASN][1000 genomes]
rs28439683	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28582831	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28636800	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28704189	0.86[EUR][1000 genomes]
rs34401601	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34734042	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34764568	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35173463	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3751817	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3752681	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3829537	0.81[EUR][1000 genomes]
rs3886515	0.95[ASN][1000 genomes]
rs3925658	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4444347	0.89[ASN][1000 genomes]
rs4788442	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4788547	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4788549	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788551	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788552	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788554	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4788558	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4788809	0.80[EUR][1000 genomes]
rs4788812	0.81[EUR][1000 genomes]
rs4788814	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4788821	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4788826	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4788827	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57997630	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60881203	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62053077	0.81[EUR][1000 genomes]
rs62053078	0.81[EUR][1000 genomes]
rs62053107	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62053108	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6499532	0.91[ASN][1000 genomes]
rs7185997	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7186717	0.82[EUR][1000 genomes]
rs7186859	0.88[ASN][1000 genomes]
rs7187877	0.91[ASN][1000 genomes]
rs7191593	0.92[ASN][1000 genomes]
rs7192956	0.84[ASN][1000 genomes]
rs7196498	0.90[ASN][1000 genomes]
rs7201228	0.82[ASN][1000 genomes]
rs7201754	0.91[ASN][1000 genomes]
rs7202288	0.90[ASN][1000 genomes]
rs7203168	0.90[ASN][1000 genomes]
rs7203216	0.90[ASN][1000 genomes]
rs7206039	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7404381	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8048057	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8048210	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8052489	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8052999	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8053070	0.95[ASN][1000 genomes]
rs8060867	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8061613	0.91[ASN][1000 genomes]
rs8061970	0.90[ASN][1000 genomes]
rs8062441	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8062477	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8063535	0.90[ASN][1000 genomes]
rs8203	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs918721	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs951453	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs951939	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9921270	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9922054	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9923264	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9923336	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9925069	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9925228	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9927336	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9927437	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9930543	0.81[EUR][1000 genomes]
rs9931717	0.85[EUR][1000 genomes]
rs9932415	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9933961	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9936903	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937280	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9939455	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9939471	0.82[AMR][1000 genomes]
rs9939658	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9940217	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9940707	0.82[ASN][1000 genomes]
rs9940990	0.85[EUR][1000 genomes];0.82[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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv984350	chr16:71727606-71735524	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71672000-71741400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:71683800-71756600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:71685200-71741200	Weak transcription	Psoas Muscle	Psoas
4	chr16:71690600-71733600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr16:71690600-71741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:71693000-71756400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr16:71702000-71756200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr16:71705000-71741600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr16:71705000-71756200	Weak transcription	Colon Smooth Muscle	Colon
10	chr16:71705000-71756800	Weak transcription	Gastric	stomach
11	chr16:71705200-71732200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr16:71705400-71733000	Weak transcription	Pancreas	Pancrea
13	chr16:71707400-71750200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr16:71710400-71735800	Weak transcription	Right Ventricle	heart
15	chr16:71710600-71732200	Weak transcription	Thymus	Thymus
16	chr16:71710600-71741800	Weak transcription	Spleen	Spleen
17	chr16:71710600-71756200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr16:71710600-71756400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr16:71710600-71756800	Weak transcription	Lung	lung
20	chr16:71711200-71756400	Weak transcription	K562	blood
21	chr16:71713200-71734800	Weak transcription	Placenta	Placenta
22	chr16:71713400-71732200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr16:71713400-71739800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr16:71713400-71741600	Weak transcription	NHLF	lung
25	chr16:71714600-71733200	Weak transcription	Brain Germinal Matrix	brain
26	chr16:71715800-71732200	Weak transcription	NHEK	skin
27	chr16:71715800-71741200	Weak transcription	Hela-S3	cervix
28	chr16:71715800-71756000	Weak transcription	Brain Hippocampus Middle	brain
29	chr16:71716600-71732800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr16:71716800-71756600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr16:71718800-71732200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:71718800-71732200	Weak transcription	Aorta	Aorta
33	chr16:71719000-71739800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr16:71720200-71733000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr16:71721600-71748400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr16:71722800-71732200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr16:71724000-71741400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr16:71724200-71731200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr16:71724200-71732400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:71724200-71736000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr16:71724400-71732000	Weak transcription	Fetal Brain Female	brain
42	chr16:71724400-71732200	Weak transcription	Liver	Liver
43	chr16:71724400-71732200	Weak transcription	Brain Anterior Caudate	brain
44	chr16:71724400-71732200	Weak transcription	A549	lung
45	chr16:71724400-71733200	Weak transcription	HSMMtube	muscle
46	chr16:71724400-71733400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr16:71724400-71734800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr16:71724400-71748800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr16:71724400-71756000	Weak transcription	Dnd41	blood
50	chr16:71724400-71756200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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