Variant report

Variant	rs1443093
Chromosome Location	chr4:152460645-152460646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10021998	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10155290	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12505163	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28378042	0.81[AFR][1000 genomes]
rs28505227	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs28665936	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7663615	0.82[EUR][1000 genomes]
rs7685383	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9631757	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1025192	chr4:152202627-152498890	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv537307	chr4:152202627-152498890	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv880624	chr4:152280646-152549112	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv881342	chr4:152363772-152560449	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv830114	chr4:152401288-152548606	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv508321	chr4:152409994-152474456	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152445800-152461400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:152445800-152468200	Weak transcription	Esophagus	oesophagus
3	chr4:152446800-152462200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:152449000-152461400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:152449400-152462600	Weak transcription	Pancreas	Pancrea
6	chr4:152451800-152460800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:152452000-152468200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:152454000-152468000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:152456400-152462000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:152456400-152465800	Weak transcription	Psoas Muscle	Psoas
11	chr4:152457200-152461800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:152457800-152461800	Weak transcription	Ovary	ovary
13	chr4:152457800-152468000	Weak transcription	Fetal Intestine Small	intestine
14	chr4:152458200-152461000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:152458400-152462200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:152458400-152464200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr4:152458800-152461000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:152458800-152462200	Enhancers	NHEK	skin
19	chr4:152459000-152464200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr4:152459200-152460800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:152459200-152461800	Weak transcription	Brain Germinal Matrix	brain
22	chr4:152459400-152460800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:152459400-152461400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:152459400-152461600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:152459400-152461600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:152459400-152462000	Weak transcription	Fetal Brain Female	brain
27	chr4:152459400-152462200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:152459400-152462200	Weak transcription	Fetal Lung	lung
29	chr4:152459400-152462600	Weak transcription	Brain Anterior Caudate	brain
30	chr4:152459400-152462600	Weak transcription	Fetal Brain Male	brain
31	chr4:152459600-152460800	Weak transcription	HMEC	breast
32	chr4:152459800-152461000	Enhancers	Dnd41	blood
33	chr4:152459800-152462000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:152459800-152462200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:152460000-152462400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:152460000-152462600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr4:152460200-152462000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr4:152460200-152462000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:152460200-152462000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr4:152460200-152462200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:152460200-152470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr4:152460400-152460800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:152460400-152467600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr4:152460600-152460800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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