Variant report

Variant	rs66649743
Chromosome Location	chr4:95341128-95341129
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	chr4:95340337..95343627-chr4:95345618..95349252,4	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10011690	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10011765	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1593555	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1896117	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1896118	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960282	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2902981	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4359908	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699265	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4699834	0.81[ASN][1000 genomes]
rs4699848	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699849	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699851	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55770704	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56020558	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56389448	0.87[ASN][1000 genomes]
rs59408296	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60613894	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60852827	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67100471	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67192700	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67524120	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67636336	0.87[ASN][1000 genomes]
rs67798520	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67843621	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667605	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95334400-95346400	Weak transcription	Aorta	Aorta
2	chr4:95338800-95341600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:95339400-95341200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:95340200-95341400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:95340200-95342000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:95340400-95341200	Enhancers	Fetal Intestine Small	intestine
7	chr4:95340400-95342600	Enhancers	Hela-S3	cervix
8	chr4:95340400-95343600	Enhancers	Fetal Intestine Large	intestine
9	chr4:95340400-95344200	Enhancers	HepG2	liver
10	chr4:95340600-95341200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:95340600-95341200	Enhancers	Liver	Liver
12	chr4:95340600-95341800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr4:95340600-95341800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:95340600-95342000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:95340600-95342000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:95340600-95342000	Enhancers	HMEC	breast
17	chr4:95340600-95342200	Enhancers	NHEK	skin
18	chr4:95340800-95341400	Flanking Active TSS	Fetal Heart	heart
19	chr4:95340800-95342000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:95340800-95342000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:95340800-95342000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:95340800-95342000	Enhancers	Duodenum Mucosa	Duodenum
23	chr4:95340800-95342200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:95341000-95341200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:95341000-95341400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr4:95341000-95341400	Flanking Active TSS	A549	lung
27	chr4:95341000-95341800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:95341000-95341800	Enhancers	Osteobl	bone
29	chr4:95341000-95342000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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