Variant report

Variant	rs58684580
Chromosome Location	chr16:70443942-70443943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70443662..70445222-chr16:70455182..70456907,2	K562	blood:
2	chr16:70440964..70444815-chr16:70460997..70465510,6	K562	blood:
3	chr16:70441229..70447070-chr16:70453059..70456907,6	K562	blood:
4	chr16:70440879..70444022-chr16:70460685..70463033,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2903523	0.97[EUR][1000 genomes]
rs57326693	0.82[AFR][1000 genomes]
rs74026021	0.84[AFR][1000 genomes]
rs74026023	0.85[AFR][1000 genomes]
rs74026025	0.80[AFR][1000 genomes]
rs74026029	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70428800-70450400	Weak transcription	Fetal Kidney	kidney
2	chr16:70432400-70444800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr16:70432800-70454800	Weak transcription	Pancreas	Pancrea
4	chr16:70432800-70457000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:70433200-70461600	Weak transcription	Aorta	Aorta
6	chr16:70433400-70461600	Weak transcription	Brain Substantia Nigra	brain
7	chr16:70433600-70461600	Weak transcription	Colon Smooth Muscle	Colon
8	chr16:70434400-70448000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr16:70434600-70444800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr16:70435000-70451400	Weak transcription	Fetal Brain Female	brain
11	chr16:70438400-70444800	Weak transcription	Liver	Liver
12	chr16:70438400-70450800	Weak transcription	Small Intestine	intestine
13	chr16:70438400-70461600	Weak transcription	HSMM	muscle
14	chr16:70438600-70444200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:70438600-70445000	Weak transcription	Fetal Lung	lung
16	chr16:70438600-70445200	Weak transcription	HSMMtube	muscle
17	chr16:70438600-70448200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr16:70438600-70450600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr16:70438600-70461600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:70438600-70461600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr16:70438800-70446000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr16:70438800-70450600	Weak transcription	NHDF-Ad	bronchial
23	chr16:70438800-70450600	Weak transcription	NHLF	lung
24	chr16:70439000-70445200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr16:70439000-70445200	Weak transcription	HUVEC	blood vessel
26	chr16:70439000-70445400	Weak transcription	Osteobl	bone
27	chr16:70439000-70450600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr16:70439000-70453400	Weak transcription	A549	lung
29	chr16:70439200-70445200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr16:70439200-70448200	Weak transcription	Hela-S3	cervix
31	chr16:70439200-70452000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr16:70439200-70454800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr16:70439200-70458600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr16:70440800-70444000	Enhancers	Fetal Thymus	thymus
35	chr16:70441000-70453000	Weak transcription	Dnd41	blood
36	chr16:70441400-70444000	Genic enhancers	Fetal Intestine Small	intestine
37	chr16:70441400-70444200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr16:70441800-70444800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:70441800-70461600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr16:70442000-70444800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:70442000-70444800	Weak transcription	HepG2	liver
42	chr16:70442000-70448200	Weak transcription	Gastric	stomach
43	chr16:70442000-70452800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr16:70442200-70444800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr16:70442200-70445200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr16:70442200-70447000	Strong transcription	Fetal Stomach	stomach
47	chr16:70442200-70448000	Weak transcription	Adipose Nuclei	Adipose
48	chr16:70442200-70448200	Weak transcription	Left Ventricle	heart
49	chr16:70442200-70448200	Weak transcription	Psoas Muscle	Psoas
50	chr16:70442200-70448200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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