Variant report

Variant	rs34158217
Chromosome Location	chr16:71834953-71834954
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	chr16:71832833..71836832-chr16:71876405..71879704,4	K562	blood:
2	chr16:71833932..71837191-chr16:71839975..71841834,3	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10083757	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10220961	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10459804	0.90[ASN][1000 genomes]
rs10459805	0.86[ASN][1000 genomes]
rs11075900	0.85[ASN][1000 genomes]
rs11075902	0.86[ASN][1000 genomes]
rs11640725	0.93[ASN][1000 genomes]
rs11641873	0.81[ASN][1000 genomes]
rs11645467	0.82[ASN][1000 genomes]
rs11646635	0.82[ASN][1000 genomes]
rs11646748	0.82[ASN][1000 genomes]
rs11859729	0.85[EUR][1000 genomes]
rs11866795	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12149092	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12149496	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149873	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12447856	0.85[ASN][1000 genomes]
rs12598902	0.92[ASN][1000 genomes]
rs12920243	0.85[ASN][1000 genomes]
rs12922859	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12928187	0.83[EUR][1000 genomes]
rs12930206	0.85[ASN][1000 genomes]
rs1392483	0.91[ASN][1000 genomes]
rs2010428	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2036337	0.82[ASN][1000 genomes]
rs2036338	0.85[ASN][1000 genomes]
rs2270829	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2270830	0.83[ASN][1000 genomes]
rs2270831	0.84[ASN][1000 genomes]
rs2270832	0.84[ASN][1000 genomes]
rs2335716	0.80[EUR][1000 genomes]
rs28704189	0.88[ASN][1000 genomes]
rs35173463	0.82[ASN][1000 genomes]
rs3848389	0.90[ASN][1000 genomes]
rs3886515	0.80[EUR][1000 genomes]
rs4444347	0.83[EUR][1000 genomes]
rs4788442	0.82[ASN][1000 genomes]
rs4788554	0.85[ASN][1000 genomes]
rs4788558	0.89[ASN][1000 genomes]
rs6499532	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6499539	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7185997	0.85[ASN][1000 genomes]
rs7186859	0.85[EUR][1000 genomes]
rs7192956	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7196498	0.85[EUR][1000 genomes]
rs7201228	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7201754	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7202288	0.84[EUR][1000 genomes]
rs7203168	0.84[EUR][1000 genomes]
rs7203216	0.83[EUR][1000 genomes]
rs7203231	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7404381	0.86[ASN][1000 genomes]
rs7501228	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8051760	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8052999	0.81[ASN][1000 genomes]
rs8060867	0.85[ASN][1000 genomes]
rs8061970	0.85[EUR][1000 genomes]
rs8062441	0.88[ASN][1000 genomes]
rs8062477	0.88[ASN][1000 genomes]
rs8063535	0.85[EUR][1000 genomes]
rs951453	0.82[ASN][1000 genomes]
rs951939	0.86[ASN][1000 genomes]
rs9922054	0.86[ASN][1000 genomes]
rs9925069	0.87[ASN][1000 genomes]
rs9939455	0.85[ASN][1000 genomes]
rs9940707	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9940990	0.92[ASN][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	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
3	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71779600-71841800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:71816000-71840400	Weak transcription	Fetal Kidney	kidney
3	chr16:71821400-71840000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr16:71823200-71835200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr16:71823200-71840400	Weak transcription	HUVEC	blood vessel
6	chr16:71823200-71841400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:71823400-71836000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr16:71823400-71836800	Weak transcription	Brain Germinal Matrix	brain
9	chr16:71823400-71837400	Weak transcription	HSMM	muscle
10	chr16:71823400-71838600	Weak transcription	Brain Substantia Nigra	brain
11	chr16:71823400-71839800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr16:71823400-71840000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:71823400-71840000	Weak transcription	Brain Angular Gyrus	brain
14	chr16:71823400-71840000	Weak transcription	Brain Anterior Caudate	brain
15	chr16:71823400-71840000	Weak transcription	K562	blood
16	chr16:71823400-71840200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr16:71823400-71840200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr16:71823400-71840400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr16:71823400-71840400	Weak transcription	Fetal Brain Male	brain
20	chr16:71823400-71840400	Weak transcription	NH-A	brain
21	chr16:71823400-71841000	Weak transcription	Colonic Mucosa	Colon
22	chr16:71823400-71841400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr16:71823400-71841400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr16:71823400-71841400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr16:71823400-71841600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr16:71823400-71841600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr16:71823400-71841600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr16:71823400-71841600	Weak transcription	Aorta	Aorta
29	chr16:71823400-71841800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:71823400-71841800	Weak transcription	Esophagus	oesophagus
31	chr16:71823400-71841800	Weak transcription	Pancreas	Pancrea
32	chr16:71823600-71838800	Weak transcription	Hela-S3	cervix
33	chr16:71823600-71839600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr16:71823600-71840000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr16:71823600-71840400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr16:71823800-71837600	Weak transcription	Osteobl	bone
37	chr16:71823800-71840800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr16:71825600-71839600	Weak transcription	Brain Hippocampus Middle	brain
39	chr16:71826400-71839600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr16:71826400-71840200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr16:71826600-71840400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:71826600-71840400	Weak transcription	Right Ventricle	heart
43	chr16:71827000-71840200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr16:71827000-71841000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr16:71827000-71841000	Weak transcription	Right Atrium	heart
46	chr16:71827000-71841800	Weak transcription	Spleen	Spleen
47	chr16:71827400-71841200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr16:71827600-71840200	Weak transcription	NHEK	skin
49	chr16:71827800-71835200	Weak transcription	GM12878-XiMat	blood
50	chr16:71829400-71837200	Weak transcription	HepG2	liver

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