Variant report

Variant	rs4233383
Chromosome Location	chr1:161981561-161981562
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161976766..161979689-chr1:161981047..161983365,4	K562	blood:
2	chr1:161719690..161721736-chr1:161980982..161982945,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10218569	0.85[AFR][1000 genomes]
rs1337065	0.85[AFR][1000 genomes]
rs4657135	0.85[AFR][1000 genomes]
rs6427646	0.85[AFR][1000 genomes]
rs6669525	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs6699250	0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs6699368	0.80[YRI][hapmap]
rs7534852	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs7554169	1.00[YRI][hapmap];0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1007108	chr1:161925814-162002917	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831747	chr1:161926367-162103311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr1:161965200-161984600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:161971400-161982600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:161973600-161983200	Genic enhancers	Fetal Muscle Leg	muscle
4	chr1:161974600-161982200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:161974800-161982800	Weak transcription	Adipose Nuclei	Adipose
6	chr1:161974800-161987200	Weak transcription	NHLF	lung
7	chr1:161975200-161988600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:161976200-161982000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:161978800-161982400	Genic enhancers	Fetal Muscle Trunk	muscle
10	chr1:161978800-161982800	Weak transcription	Fetal Intestine Small	intestine
11	chr1:161979000-161983800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:161979200-161993200	Weak transcription	Gastric	stomach
13	chr1:161979400-161981600	Enhancers	Left Ventricle	heart
14	chr1:161979400-161982600	Enhancers	Right Atrium	heart
15	chr1:161979400-161986400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:161979600-161988200	Weak transcription	Psoas Muscle	Psoas
17	chr1:161979800-161981600	Enhancers	Ovary	ovary
18	chr1:161979800-161982400	Genic enhancers	HSMM	muscle
19	chr1:161979800-161988200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:161980000-161982400	Weak transcription	Brain Anterior Caudate	brain
21	chr1:161980200-161982400	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:161980400-161982400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr1:161980400-161983000	Enhancers	Fetal Heart	heart
24	chr1:161980400-161983200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:161980600-161982600	Enhancers	Rectal Smooth Muscle	rectum
26	chr1:161980800-161981800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:161980800-161982200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr1:161980800-161982800	Enhancers	Colon Smooth Muscle	Colon
29	chr1:161980800-161982800	Enhancers	HSMMtube	muscle
30	chr1:161980800-161988800	Weak transcription	Osteobl	bone
31	chr1:161981000-161981600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:161981200-161981600	Enhancers	Aorta	Aorta
33	chr1:161981200-161982000	Weak transcription	NHDF-Ad	bronchial
34	chr1:161981200-161988400	Weak transcription	Lung	lung
35	chr1:161981400-161981800	Strong transcription	Fetal Stomach	stomach
36	chr1:161981400-161983000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:161981400-161984200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:161981400-161985000	Weak transcription	Pancreas	Pancrea
39	chr1:161981400-161989200	Weak transcription	Placenta	Placenta

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