Variant report

Variant	rs28550447
Chromosome Location	chr4:16068536-16068537
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10011781	1.00[AMR][1000 genomes]
rs16892815	1.00[AMR][1000 genomes]
rs16892824	1.00[AMR][1000 genomes]
rs28613549	1.00[AFR][1000 genomes]
rs60617563	1.00[AMR][1000 genomes]
rs73130470	1.00[AMR][1000 genomes]
rs73130483	1.00[AMR][1000 genomes]
rs73798807	1.00[AMR][1000 genomes]
rs9993135	1.00[AFR][1000 genomes]
rs9995428	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16034400-16072200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:16046800-16069600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:16058000-16068600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:16058600-16068600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:16058600-16068800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:16058600-16077400	Weak transcription	Aorta	Aorta
7	chr4:16058600-16079800	Weak transcription	Right Atrium	heart
8	chr4:16058600-16080400	Weak transcription	Fetal Intestine Small	intestine
9	chr4:16059200-16068600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:16059800-16073400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:16064000-16071800	Weak transcription	Psoas Muscle	Psoas
12	chr4:16064400-16069000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:16064600-16069000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:16064600-16071000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:16065000-16069200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:16065000-16075800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:16065200-16068800	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:16065400-16069600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:16065800-16069800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:16066000-16069000	Weak transcription	HepG2	liver
21	chr4:16066000-16077600	Weak transcription	Fetal Intestine Large	intestine
22	chr4:16066200-16081000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:16066600-16069400	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr4:16066600-16069600	Enhancers	Placenta	Placenta
25	chr4:16066600-16069800	Genic enhancers	Fetal Stomach	stomach
26	chr4:16066600-16072800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:16066800-16069600	Enhancers	Fetal Lung	lung
28	chr4:16067200-16068600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:16067200-16068800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:16067200-16069000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:16067200-16069200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:16067200-16076600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr4:16067200-16077400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:16067400-16068600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:16067400-16068600	Weak transcription	HMEC	breast
36	chr4:16067400-16069000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr4:16067400-16069600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr4:16067600-16069800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:16067600-16069800	Enhancers	Pancreas	Pancrea
40	chr4:16067600-16070000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr4:16067600-16072400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:16067600-16083200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:16067800-16068600	Enhancers	Brain Hippocampus Middle	brain
44	chr4:16067800-16068600	Weak transcription	Colonic Mucosa	Colon
45	chr4:16067800-16069800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr4:16068000-16069800	Enhancers	Stomach Mucosa	stomach
47	chr4:16068000-16070000	Enhancers	Fetal Muscle Leg	muscle
48	chr4:16068200-16068800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr4:16068200-16068800	Enhancers	Brain Cingulate Gyrus	brain
50	chr4:16068200-16070200	Enhancers	Brain Germinal Matrix	brain

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