Variant report

Variant	rs8056823
Chromosome Location	chr16:71685327-71685328
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71684183..71687007-chr16:71688386..71691212,2	K562	blood:
2	chr16:71684183..71687059-chr16:71688716..71691212,2	K562	blood:

Variant related genes	Relation type
ENSG00000260185	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10083757	0.81[EUR][1000 genomes]
rs1035545	0.85[ASN][1000 genomes]
rs10500559	0.92[ASN][1000 genomes]
rs1058747	0.93[ASN][1000 genomes]
rs10775326	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11075890	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11075895	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11647873	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11648674	0.82[ASN][1000 genomes]
rs11859729	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11865683	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12051443	0.92[ASN][1000 genomes]
rs12051449	0.89[ASN][1000 genomes]
rs12051506	0.92[ASN][1000 genomes]
rs12149092	0.81[EUR][1000 genomes]
rs12149873	0.85[EUR][1000 genomes]
rs12444484	0.82[ASN][1000 genomes]
rs12922859	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12923644	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12927320	0.90[ASN][1000 genomes]
rs12928187	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12930418	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12932850	0.86[ASN][1000 genomes]
rs13380425	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1582589	0.96[ASN][1000 genomes]
rs2010428	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2270829	0.87[EUR][1000 genomes]
rs2303224	0.93[ASN][1000 genomes]
rs2334879	0.81[ASN][1000 genomes]
rs2335716	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34764568	0.82[ASN][1000 genomes]
rs35939203	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3752681	0.93[ASN][1000 genomes]
rs3886515	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3925658	0.82[ASN][1000 genomes]
rs4444347	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4788821	0.82[ASN][1000 genomes]
rs57997630	0.89[ASN][1000 genomes]
rs62053107	0.90[ASN][1000 genomes]
rs62053108	0.82[ASN][1000 genomes]
rs6499532	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6499539	0.81[EUR][1000 genomes]
rs7186859	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7187877	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7188406	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7191593	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7192956	0.81[EUR][1000 genomes]
rs7195840	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7196498	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7201228	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7201754	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7202288	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7203168	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7203216	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8051760	0.81[EUR][1000 genomes]
rs8053070	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8061613	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8061970	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8063535	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8203	0.93[ASN][1000 genomes]
rs979789	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9940707	0.81[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71663600-71686600	Weak transcription	Small Intestine	intestine
2	chr16:71668000-71703000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr16:71671600-71686400	Weak transcription	Fetal Heart	heart
4	chr16:71671800-71704000	Weak transcription	Fetal Brain Male	brain
5	chr16:71672000-71741400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr16:71672400-71686400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr16:71674800-71704600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr16:71675000-71724000	Weak transcription	Esophagus	oesophagus
9	chr16:71676400-71686200	Weak transcription	HUVEC	blood vessel
10	chr16:71676800-71692200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr16:71676800-71693600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr16:71677800-71688800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr16:71679000-71693000	Strong transcription	HSMM	muscle
14	chr16:71679200-71693000	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr16:71680600-71687400	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr16:71681000-71693000	Strong transcription	Stomach Smooth Muscle	stomach
17	chr16:71681200-71685400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr16:71681200-71693000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr16:71681200-71693600	Strong transcription	Fetal Intestine Large	intestine
20	chr16:71681200-71710800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:71681200-71716000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr16:71681400-71686400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:71681400-71690600	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr16:71681400-71691200	Strong transcription	Fetal Stomach	stomach
25	chr16:71681400-71692800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr16:71681400-71693200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr16:71681400-71693400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr16:71681400-71694200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr16:71681600-71685600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr16:71681800-71689800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr16:71681800-71690800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr16:71682000-71690800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:71682200-71686400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr16:71682200-71692600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr16:71682800-71698000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:71683000-71693000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr16:71683200-71686600	Weak transcription	HMEC	breast
38	chr16:71683400-71689800	Weak transcription	K562	blood
39	chr16:71683600-71686200	Weak transcription	Fetal Brain Female	brain
40	chr16:71683600-71686400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr16:71683800-71686000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr16:71683800-71686400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr16:71683800-71686400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr16:71683800-71686600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr16:71683800-71686600	Weak transcription	Brain Hippocampus Middle	brain
46	chr16:71683800-71686600	Weak transcription	Right Ventricle	heart
47	chr16:71683800-71686800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr16:71683800-71687200	Weak transcription	NH-A	brain
49	chr16:71683800-71688200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr16:71683800-71688200	Weak transcription	Colonic Mucosa	Colon

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