Variant report

Variant	rs12924631
Chromosome Location	chr16:71705774-71705775
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	chr16:71704411..71706354-chr16:71713659..71716566,2	K562	blood:
2	chr16:71705048..71707910-chr16:71742030..71743762,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000040199	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10500560	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1056303	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11639902	0.87[AFR][1000 genomes]
rs11640830	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11642526	0.86[ASN][1000 genomes]
rs11648483	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11670	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12445161	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12446005	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12448022	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12919271	0.81[EUR][1000 genomes]
rs1345868	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34028112	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34358623	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34680964	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34731378	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35706035	0.82[ASN][1000 genomes]
rs61753635	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71403864	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7185575	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7192860	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7197104	0.80[EUR][1000 genomes]
rs7205340	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8046629	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8049163	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8053623	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

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	chr16:71690600-71706400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr16:71690600-71708800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr16:71690600-71709600	Weak transcription	Small Intestine	intestine
15	chr16:71690600-71733600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr16:71690600-71741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr16:71690800-71725600	Weak transcription	Fetal Thymus	thymus
18	chr16:71693000-71756400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr16:71694600-71706600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr16:71694800-71710400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr16:71695000-71707400	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr16:71695000-71710800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr16:71695000-71725200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:71695000-71726000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr16:71695200-71719200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:71695200-71724800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:71695200-71725200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr16:71696000-71706000	Strong transcription	Adipose Nuclei	Adipose
29	chr16:71696000-71719000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr16:71696200-71706000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr16:71696200-71713400	Strong transcription	Brain Germinal Matrix	brain
32	chr16:71696400-71707600	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr16:71696400-71720000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:71696400-71725200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr16:71696600-71706200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr16:71696600-71715800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr16:71697000-71706400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr16:71697200-71711400	Strong transcription	Primary B cells from cord blood	blood
39	chr16:71697200-71718800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:71697400-71706400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr16:71697600-71706000	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr16:71698400-71710000	Weak transcription	GM12878-XiMat	blood
43	chr16:71699200-71706400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr16:71699200-71706600	Strong transcription	Stomach Smooth Muscle	stomach
45	chr16:71699200-71711400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr16:71699400-71706000	Strong transcription	Primary T cells from cord blood	blood
47	chr16:71699400-71706800	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr16:71699400-71706800	Strong transcription	Dnd41	blood
49	chr16:71699600-71711200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr16:71700200-71706000	Strong transcription	Brain Anterior Caudate	brain

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