Variant report

Variant	rs34553411
Chromosome Location	chr16:65083217-65083218
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:65076587..65078902-chr16:65080477..65083280,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1040270	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1040271	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10500508	0.81[ASN][1000 genomes]
rs12935138	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1356823	0.98[ASN][1000 genomes]
rs1520232	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1520236	0.81[ASN][1000 genomes]
rs1532418	0.84[ASN][1000 genomes]
rs16968461	0.81[ASN][1000 genomes]
rs1850966	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1874457	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1915117	0.81[ASN][1000 genomes]
rs2088285	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2280396	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28216	0.84[EUR][1000 genomes]
rs35054335	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35176	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35189	0.85[EUR][1000 genomes]
rs35709707	0.82[ASN][1000 genomes]
rs4393595	0.84[ASN][1000 genomes]
rs4967885	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4967886	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59954387	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7204729	0.87[ASN][1000 genomes]
rs7498801	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8048351	0.84[ASN][1000 genomes]
rs974782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv948640	chr16:64859061-65112790	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv833260	chr16:65050647-65218759	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1831	chr16:65071976-65106105	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65039000-65089600	Weak transcription	Fetal Intestine Large	intestine
2	chr16:65040600-65086000	Weak transcription	HMEC	breast
3	chr16:65058600-65104400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:65069800-65105000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr16:65072800-65088800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr16:65072800-65096200	Weak transcription	Colon Smooth Muscle	Colon
7	chr16:65074400-65084800	Strong transcription	Fetal Lung	lung
8	chr16:65074400-65094000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:65078600-65088200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr16:65079000-65083400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr16:65079000-65083600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr16:65079000-65084400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr16:65079000-65085200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:65079000-65093000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr16:65079200-65088000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr16:65079200-65088000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr16:65079600-65086000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr16:65079600-65087000	Weak transcription	Brain Germinal Matrix	brain
19	chr16:65079600-65087400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:65079800-65083600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr16:65079800-65083600	Weak transcription	Brain Hippocampus Middle	brain
22	chr16:65079800-65088000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:65079800-65088000	Weak transcription	Brain Substantia Nigra	brain
24	chr16:65080200-65083600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:65080200-65087000	Weak transcription	Brain Anterior Caudate	brain
26	chr16:65080200-65088000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:65080200-65088200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr16:65080200-65091000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:65080400-65083400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr16:65080400-65083800	Weak transcription	Placenta	Placenta
31	chr16:65080400-65088000	Strong transcription	Osteobl	bone
32	chr16:65080400-65088600	Weak transcription	Spleen	Spleen
33	chr16:65080400-65088800	Weak transcription	Fetal Brain Male	brain
34	chr16:65080600-65083400	Weak transcription	Fetal Kidney	kidney
35	chr16:65080600-65083400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr16:65080600-65083600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr16:65080600-65086000	Weak transcription	Fetal Muscle Leg	muscle
38	chr16:65081000-65083400	Weak transcription	Aorta	Aorta
39	chr16:65081200-65083400	Weak transcription	NHLF	lung
40	chr16:65081200-65088400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr16:65081600-65087800	Strong transcription	NHDF-Ad	bronchial
42	chr16:65081800-65083400	Weak transcription	HSMM	muscle
43	chr16:65081800-65094800	Weak transcription	Lung	lung
44	chr16:65082000-65088000	Strong transcription	HSMMtube	muscle
45	chr16:65082200-65083400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:65082200-65083600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:65082200-65083800	Weak transcription	Fetal Stomach	stomach
48	chr16:65082200-65086600	Weak transcription	Brain Angular Gyrus	brain
49	chr16:65082400-65083400	Weak transcription	Ovary	ovary
50	chr16:65082800-65093200	Strong transcription	NH-A	brain

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