Variant report

Variant	rs13122502
Chromosome Location	chr4:120541504-120541505
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:120517016..120518530-chr4:120541484..120543231,2	K562	blood:
2	chr4:120537436..120539044-chr4:120539975..120542801,2	K562	blood:
3	chr4:120536229..120539044-chr4:120539476..120542801,3	K562	blood:
4	chr4:120532371..120535379-chr4:120540193..120542602,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10027627	0.85[AFR][1000 genomes]
rs10028249	0.81[AFR][1000 genomes]
rs12331968	0.97[AFR][1000 genomes]
rs13119104	0.85[AFR][1000 genomes]
rs13125819	0.85[AFR][1000 genomes]
rs2257018	0.92[AFR][1000 genomes]
rs2389865	1.00[AFR][1000 genomes]
rs2389867	1.00[AFR][1000 genomes]
rs2389884	0.85[AFR][1000 genomes]
rs2715018	0.92[AFR][1000 genomes]
rs2715020	1.00[AFR][1000 genomes]
rs2715021	0.95[AFR][1000 genomes]
rs2715022	1.00[AFR][1000 genomes]
rs2928991	0.85[AFR][1000 genomes]
rs2953292	1.00[AFR][1000 genomes]
rs4146266	0.85[AFR][1000 genomes]
rs4264816	1.00[AFR][1000 genomes]
rs4513554	1.00[AFR][1000 genomes]
rs4834786	0.89[AFR][1000 genomes]
rs4834787	0.81[AFR][1000 genomes]
rs6817738	0.85[AFR][1000 genomes]
rs7439678	0.85[AFR][1000 genomes]
rs7675276	0.86[AFR][1000 genomes]
rs7697823	1.00[AFR][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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120518800-120547200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr4:120521000-120544800	Weak transcription	Fetal Intestine Large	intestine
3	chr4:120526200-120546800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:120526400-120544200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:120528400-120547400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:120528600-120547400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:120528600-120547600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:120528800-120543000	Weak transcription	Pancreas	Pancrea
9	chr4:120528800-120544200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:120528800-120545400	Weak transcription	Fetal Stomach	stomach
11	chr4:120529000-120546600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:120532400-120547600	Weak transcription	Lung	lung
13	chr4:120533000-120544200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:120533600-120547400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:120534000-120547400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:120537000-120547400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:120537200-120542400	Enhancers	Fetal Lung	lung
18	chr4:120538600-120542000	Weak transcription	Small Intestine	intestine
19	chr4:120539600-120545000	Weak transcription	Fetal Intestine Small	intestine
20	chr4:120539800-120542200	Enhancers	Osteobl	bone
21	chr4:120539800-120542800	Enhancers	Colon Smooth Muscle	Colon
22	chr4:120540000-120544600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:120540200-120544200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:120540600-120544200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr4:120540600-120544800	Weak transcription	NHDF-Ad	bronchial
26	chr4:120540800-120542600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:120541200-120542400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr4:120541200-120544400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:120541400-120541800	Active TSS	Aorta	Aorta
30	chr4:120541400-120542000	Enhancers	Rectal Smooth Muscle	rectum
31	chr4:120541400-120542400	Active TSS	NHLF	lung
32	chr4:120541400-120542800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:120541400-120547600	Weak transcription	Left Ventricle	heart

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