Variant report

Variant	rs30414
Chromosome Location	chr16:79630326-79630327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs30410	1.00[ASN][1000 genomes]
rs30412	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv833295	chr16:79568878-79726768	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv457554	chr16:79608408-79645989	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv573289	chr16:79608408-79645989	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv827768	chr16:79615278-79640094	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv827769	chr16:79628439-79631347	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79622200-79631400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:79624800-79630800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr16:79624800-79631400	Weak transcription	Esophagus	oesophagus
4	chr16:79624800-79632400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:79625800-79636800	Active TSS	Psoas Muscle	Psoas
6	chr16:79626400-79631800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr16:79626600-79632400	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr16:79626800-79636400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr16:79627200-79633000	Transcr. at gene 5' and 3'	Fetal Lung	lung
10	chr16:79627200-79635600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
11	chr16:79627400-79632600	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr16:79628000-79632600	Active TSS	Placenta	Placenta
13	chr16:79628000-79636200	Active TSS	NHDF-Ad	bronchial
14	chr16:79628400-79636200	Active TSS	Brain Cingulate Gyrus	brain
15	chr16:79628600-79631000	Active TSS	Brain Germinal Matrix	brain
16	chr16:79628600-79631200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:79628600-79632400	Active TSS	Fetal Intestine Small	intestine
18	chr16:79628600-79633400	Active TSS	Right Atrium	heart
19	chr16:79628600-79636400	Active TSS	Brain Anterior Caudate	brain
20	chr16:79628800-79630600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr16:79628800-79632400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr16:79628800-79636200	Active TSS	Colon Smooth Muscle	Colon
23	chr16:79628800-79636200	Active TSS	Stomach Smooth Muscle	stomach
24	chr16:79628800-79637000	Active TSS	Brain Substantia Nigra	brain
25	chr16:79629000-79630400	Flanking Active TSS	NHEK	skin
26	chr16:79629000-79630600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:79629000-79630800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr16:79629000-79631200	Flanking Active TSS	Liver	Liver
29	chr16:79629000-79632600	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr16:79629000-79635200	Active TSS	Rectal Smooth Muscle	rectum
31	chr16:79629000-79636200	Active TSS	Ovary	ovary
32	chr16:79629000-79636400	Active TSS	Brain Angular Gyrus	brain
33	chr16:79629000-79636400	Active TSS	NHLF	lung
34	chr16:79629000-79636800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:79629200-79630400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr16:79629200-79631000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:79629200-79632400	Active TSS	Fetal Stomach	stomach
38	chr16:79629200-79636200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr16:79629200-79636200	Active TSS	Right Ventricle	heart
40	chr16:79629400-79630400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr16:79629400-79631000	Active TSS	Colonic Mucosa	Colon
42	chr16:79629400-79631200	Active TSS	Fetal Thymus	thymus
43	chr16:79629400-79631200	Active TSS	Thymus	Thymus
44	chr16:79629400-79631400	Active TSS	Osteobl	bone
45	chr16:79629400-79632400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr16:79629400-79632400	Bivalent/Poised TSS	Fetal Brain Male	brain
47	chr16:79629400-79632600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
48	chr16:79629600-79631200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr16:79629600-79631800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr16:79629600-79635400	Active TSS	Primary T killer memory cells from peripheral blood	blood

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