Variant report

Variant	rs11648483
Chromosome Location	chr16:71707398-71707399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71705905..71707823-chr16:71709062..71711158,2	MCF-7	breast:
2	chr16:71706191..71708726-chr16:71709826..71711472,2	K562	blood:
3	chr16:71705048..71707910-chr16:71742030..71743762,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10500560	1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1056303	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11075903	0.85[ASN][1000 genomes]
rs11639902	0.84[YRI][hapmap];0.88[AFR][1000 genomes]
rs11640830	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11641113	0.85[ASN][1000 genomes]
rs11642526	0.92[ASN][1000 genomes]
rs11642529	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11645704	0.85[ASN][1000 genomes]
rs11670	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12445161	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12446005	1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12447094	0.82[EUR][1000 genomes]
rs12448022	1.00[JPT][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12919271	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12924631	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12928939	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12933007	0.85[ASN][1000 genomes]
rs12935106	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1345868	1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34028112	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34358623	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34680964	0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34731378	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34998650	0.85[ASN][1000 genomes]
rs35706035	0.89[ASN][1000 genomes]
rs61753635	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71386932	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71403864	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7185575	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7190257	1.00[JPT][hapmap]
rs7192860	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7197104	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7202840	1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7205340	1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8046629	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs8049163	1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8051878	1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8053623	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8057568	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv962218	chr16:71645202-71727606	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:124 , 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	chr16:71675000-71724000	Weak transcription	Esophagus	oesophagus
3	chr16:71681200-71710800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:71681200-71716000	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr16:71683800-71756600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:71685200-71741200	Weak transcription	Psoas Muscle	Psoas
7	chr16:71685400-71718800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:71685800-71726000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:71686800-71717200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr16:71687800-71725000	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr16:71689000-71710000	Weak transcription	Thymus	Thymus
12	chr16:71690600-71708800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr16:71690600-71709600	Weak transcription	Small Intestine	intestine
14	chr16:71690600-71733600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr16:71690600-71741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr16:71690800-71725600	Weak transcription	Fetal Thymus	thymus
17	chr16:71693000-71756400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr16:71694800-71710400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:71695000-71707400	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr16:71695000-71710800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr16:71695000-71725200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:71695000-71726000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr16:71695200-71719200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:71695200-71724800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:71695200-71725200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:71696000-71719000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr16:71696200-71713400	Strong transcription	Brain Germinal Matrix	brain
28	chr16:71696400-71707600	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr16:71696400-71720000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr16:71696400-71725200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr16:71696600-71715800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr16:71697200-71711400	Strong transcription	Primary B cells from cord blood	blood
33	chr16:71697200-71718800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:71698400-71710000	Weak transcription	GM12878-XiMat	blood
35	chr16:71699200-71711400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr16:71699600-71711200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr16:71700200-71716600	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr16:71700400-71707400	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr16:71701400-71713400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr16:71701400-71719200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr16:71701800-71715400	Weak transcription	Stomach Mucosa	stomach
42	chr16:71702000-71756200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr16:71702600-71707600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr16:71702600-71710600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr16:71702600-71713800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr16:71702800-71709600	Strong transcription	HSMM	muscle
47	chr16:71703800-71718400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr16:71703800-71723800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr16:71704000-71710000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr16:71704000-71712200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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