Variant report

Variant	rs66887589
Chromosome Location	chr4:120509279-120509280
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	chr4:120485362..120487909-chr4:120507957..120510627,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10518336	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1155577	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12648182	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13104219	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13134517	0.80[ASN][1000 genomes]
rs1480933	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2389873	0.87[EUR][1000 genomes]
rs2389875	0.82[EUR][1000 genomes]
rs2622501	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2622503	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2715016	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2892869	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36173322	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3775842	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41464847	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4834792	0.87[EUR][1000 genomes]
rs55661135	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56173225	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56843000	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59516282	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59590064	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6534135	0.80[ASN][1000 genomes]
rs6817317	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72920701	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7661498	0.80[ASN][1000 genomes]
rs7672519	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7678973	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7681980	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7694483	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh 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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120485800-120520000	Weak transcription	Small Intestine	intestine
2	chr4:120486600-120516600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:120486800-120515800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:120486800-120516400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:120486800-120527600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:120488200-120510200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:120492200-120513800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:120492200-120540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:120501800-120520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:120502000-120512400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:120502000-120516200	Weak transcription	Fetal Intestine Large	intestine
12	chr4:120502200-120516400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:120502200-120527800	Weak transcription	Pancreas	Pancrea
14	chr4:120502400-120526400	Weak transcription	Fetal Stomach	stomach
15	chr4:120502600-120541000	Weak transcription	Left Ventricle	heart
16	chr4:120503000-120510000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:120503000-120517600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:120503200-120516400	Weak transcription	Ovary	ovary
19	chr4:120503200-120517800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:120504400-120516400	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:120504400-120520200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:120504600-120519800	Weak transcription	Fetal Intestine Small	intestine
23	chr4:120505000-120519800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:120505200-120518400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:120505400-120511000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:120505400-120514400	Weak transcription	NH-A	brain
27	chr4:120505400-120516600	Weak transcription	Aorta	Aorta
28	chr4:120505600-120519800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr4:120506000-120509800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr4:120506000-120514000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:120506000-120514000	Weak transcription	Fetal Lung	lung
32	chr4:120506000-120515400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr4:120506000-120516000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:120506200-120525800	Weak transcription	Fetal Kidney	kidney
35	chr4:120507000-120512800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:120507400-120512400	Weak transcription	Osteobl	bone
37	chr4:120507800-120510800	Weak transcription	NHLF	lung
38	chr4:120509000-120509600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:120509000-120509600	Enhancers	Colon Smooth Muscle	Colon

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