Variant report

Variant	rs28528960
Chromosome Location	chr4:186544435-186544436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:186538710..186540689-chr4:186543364..186545712,2	K562	blood:
2	chr4:186543758..186545756-chr4:186936731..186939343,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13120638	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13144235	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527026	chr4:186325429-186553480	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv830169	chr4:186455064-186638163	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186495400-186548000	Weak transcription	Esophagus	oesophagus
2	chr4:186509000-186576400	Weak transcription	Brain Angular Gyrus	brain
3	chr4:186509400-186564200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:186519000-186549200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:186519000-186577600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:186519200-186545800	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:186519200-186561000	Weak transcription	Fetal Kidney	kidney
8	chr4:186521200-186548600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:186521600-186572200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:186523600-186577600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:186524600-186547400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:186528400-186544800	Weak transcription	Lung	lung
13	chr4:186529000-186545000	Weak transcription	Placenta	Placenta
14	chr4:186529400-186553400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:186530400-186545000	Weak transcription	Osteobl	bone
16	chr4:186530400-186546800	Strong transcription	Liver	Liver
17	chr4:186532600-186560200	Weak transcription	Colonic Mucosa	Colon
18	chr4:186533000-186545600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:186533200-186552800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:186533800-186577600	Weak transcription	NH-A	brain
21	chr4:186534400-186577600	Weak transcription	HSMM	muscle
22	chr4:186535000-186559000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:186535800-186545800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:186536200-186545200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr4:186536200-186547800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr4:186538600-186545000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:186538600-186551000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:186538800-186552000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:186538800-186552800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:186538800-186566600	Weak transcription	Stomach Mucosa	stomach
31	chr4:186541200-186562200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr4:186541200-186564600	Weak transcription	HUVEC	blood vessel
33	chr4:186541400-186544600	Weak transcription	Ovary	ovary
34	chr4:186541400-186565800	Weak transcription	HepG2	liver
35	chr4:186542000-186544800	Weak transcription	Fetal Intestine Large	intestine
36	chr4:186542400-186544800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:186543000-186547200	Strong transcription	Left Ventricle	heart
38	chr4:186543400-186545000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr4:186543600-186545200	Strong transcription	Fetal Heart	heart
40	chr4:186543600-186545800	Strong transcription	HSMMtube	muscle
41	chr4:186543600-186548200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:186543800-186545000	Strong transcription	Colon Smooth Muscle	Colon
43	chr4:186543800-186545600	Strong transcription	Gastric	stomach
44	chr4:186543800-186545800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:186543800-186545800	Strong transcription	Pancreas	Pancrea
46	chr4:186543800-186546200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr4:186544000-186544800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr4:186544000-186544800	Strong transcription	Fetal Stomach	stomach
49	chr4:186544000-186545400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:186544000-186545400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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