Variant report

Variant	rs11859700
Chromosome Location	chr16:75359270-75359271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11862132	1.00[AMR][1000 genomes]
rs11863614	1.00[AMR][1000 genomes]
rs11866853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs247428	1.00[AMR][1000 genomes]
rs247435	1.00[AMR][1000 genomes]
rs28655559	1.00[AMR][1000 genomes]
rs9923279	1.00[AMR][1000 genomes]
rs9927755	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
5	nsv833283	chr16:75302175-75392308	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75338800-75426400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:75339400-75411800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr16:75340400-75374800	Weak transcription	Aorta	Aorta
4	chr16:75340800-75373400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr16:75341800-75364600	Weak transcription	Hela-S3	cervix
6	chr16:75342200-75381200	Weak transcription	Esophagus	oesophagus
7	chr16:75344000-75376400	Weak transcription	Gastric	stomach
8	chr16:75344600-75361400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr16:75347600-75366000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:75348400-75374200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr16:75351600-75363200	Weak transcription	HepG2	liver
12	chr16:75352000-75361200	Weak transcription	Fetal Stomach	stomach
13	chr16:75352000-75368000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr16:75352200-75362600	Weak transcription	Fetal Intestine Large	intestine
15	chr16:75352200-75376400	Weak transcription	Pancreas	Pancrea
16	chr16:75352200-75396000	Weak transcription	Lung	lung
17	chr16:75354600-75362800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr16:75354600-75367800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr16:75354600-75373400	Weak transcription	Left Ventricle	heart
20	chr16:75354600-75375000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr16:75354800-75360200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr16:75354800-75363600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr16:75354800-75370800	Weak transcription	Brain Anterior Caudate	brain
24	chr16:75354800-75372400	Weak transcription	Fetal Lung	lung
25	chr16:75354800-75374800	Weak transcription	Liver	Liver
26	chr16:75354800-75413600	Weak transcription	Fetal Thymus	thymus
27	chr16:75355000-75359600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr16:75355000-75359600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr16:75355000-75359600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr16:75355000-75360200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:75355000-75364400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr16:75355000-75364600	Weak transcription	Brain Hippocampus Middle	brain
33	chr16:75355000-75368000	Weak transcription	Fetal Muscle Leg	muscle
34	chr16:75355000-75374600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr16:75355200-75360000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr16:75355200-75360000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr16:75355400-75360000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr16:75355400-75375000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr16:75355400-75379800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr16:75355600-75359400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr16:75355600-75359800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr16:75355600-75360000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr16:75355600-75367600	Weak transcription	HSMMtube	muscle
44	chr16:75356600-75359400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:75356600-75359400	Weak transcription	Fetal Heart	heart
46	chr16:75357400-75359400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr16:75357400-75367400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr16:75357400-75374400	Weak transcription	Osteobl	bone
49	chr16:75357400-75374800	Weak transcription	NHDF-Ad	bronchial
50	chr16:75357600-75360000	Enhancers	Primary T cells from cord blood	blood

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