Variant report

Variant	rs73845504
Chromosome Location	chr4:120970610-120970611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120965102..120968292-chr4:120969292..120973289,4	K562	blood:
2	chr4:120966303..120968314-chr4:120969694..120972264,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10005042	0.83[ASN][1000 genomes]
rs10029180	0.83[ASN][1000 genomes]
rs11941471	0.83[ASN][1000 genomes]
rs28624642	0.83[ASN][1000 genomes]
rs28749277	0.83[ASN][1000 genomes]
rs6534179	0.83[ASN][1000 genomes]
rs72914336	0.83[ASN][1000 genomes]
rs72914338	0.83[ASN][1000 genomes]
rs72914386	0.83[ASN][1000 genomes]
rs73845506	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73845507	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9684604	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1007641	chr4:120884220-121555889	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv537234	chr4:120884220-121555889	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv879851	chr4:120942372-120984077	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr4:120962200-120987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:120966000-120975600	Weak transcription	Dnd41	blood
3	chr4:120966400-120976200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:120970000-120971000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:120970000-120979600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:120970200-120970800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:120970200-120971200	Active TSS	Aorta	Aorta
8	chr4:120970400-120970800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:120970400-120970800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:120970400-120970800	Enhancers	Brain Cingulate Gyrus	brain
11	chr4:120970400-120970800	Flanking Active TSS	NHDF-Ad	bronchial
12	chr4:120970400-120971000	Active TSS	Brain Anterior Caudate	brain
13	chr4:120970400-120971000	Active TSS	NHLF	lung
14	chr4:120970400-120971200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:120970400-120971200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:120970400-120971200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:120970400-120971200	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr4:120970600-120970800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:120970600-120970800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:120970600-120970800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:120970600-120970800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr4:120970600-120970800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:120970600-120970800	Enhancers	Left Ventricle	heart
24	chr4:120970600-120970800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr4:120970600-120970800	Enhancers	GM12878-XiMat	blood
26	chr4:120970600-120971000	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr4:120970600-120971000	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr4:120970600-120971000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:120970600-120971000	Active TSS	Brain Substantia Nigra	brain
30	chr4:120970600-120971000	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr4:120970600-120971000	Active TSS	Fetal Kidney	kidney
32	chr4:120970600-120971200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:120970600-120971200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:120970600-120971200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:120970600-120971200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr4:120970600-120971200	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr4:120970600-120971200	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr4:120970600-120971200	Flanking Active TSS	NH-A	brain
39	chr4:120970600-120971200	Flanking Active TSS	Osteobl	bone

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