Variant report

Variant	rs73811447
Chromosome Location	chr5:179775370-179775371
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	chr5:179772488..179776798-chr5:179777928..179781659,4	K562	blood:
2	chr5:179771513..179773168-chr5:179773913..179776480,2	K562	blood:

Variant related genes	Relation type
ENSG00000131459	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs58553716	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58646811	1.00[AMR][1000 genomes]
rs59738929	1.00[AMR][1000 genomes]
rs6601115	1.00[AMR][1000 genomes]
rs6884111	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363227	1.00[AMR][1000 genomes]
rs73811444	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73811445	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73811446	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73811448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73813208	1.00[AMR][1000 genomes]
rs73813209	1.00[AMR][1000 genomes]
rs73813213	1.00[AMR][1000 genomes]
rs73813215	1.00[AMR][1000 genomes]
rs73813217	1.00[AMR][1000 genomes]
rs7735436	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
5	nsv883290	chr5:179712060-179818868	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv830563	chr5:179717693-179898609	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
9	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
10	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
11	nsv883291	chr5:179755559-179818868	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv984575	chr5:179759624-179791220	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179757000-179779000	Weak transcription	Esophagus	oesophagus
2	chr5:179764000-179778800	Weak transcription	Pancreas	Pancrea
3	chr5:179768800-179775400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:179770000-179775600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:179770400-179777000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:179770400-179779000	Weak transcription	Gastric	stomach
7	chr5:179770600-179778600	Weak transcription	Right Atrium	heart
8	chr5:179771000-179775600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:179771200-179777400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:179771200-179778600	Weak transcription	Lung	lung
11	chr5:179771400-179777400	Weak transcription	HSMMtube	muscle
12	chr5:179771600-179775800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:179771600-179777000	Weak transcription	Brain Substantia Nigra	brain
14	chr5:179771600-179777000	Weak transcription	Ovary	ovary
15	chr5:179771600-179777800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:179771600-179778400	Weak transcription	HSMM	muscle
17	chr5:179771600-179778600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:179771600-179778600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:179771800-179776800	Weak transcription	Brain Angular Gyrus	brain
20	chr5:179771800-179777000	Weak transcription	Left Ventricle	heart
21	chr5:179771800-179777400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:179771800-179777400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:179771800-179777600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:179771800-179777600	Weak transcription	Osteobl	bone
25	chr5:179771800-179778400	Weak transcription	Hela-S3	cervix
26	chr5:179771800-179778600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:179772000-179777000	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:179772000-179777000	Weak transcription	A549	lung
29	chr5:179772000-179777200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:179772200-179775400	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:179772400-179775800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr5:179772600-179779200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr5:179772800-179776800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:179773400-179775400	Enhancers	Fetal Muscle Leg	muscle
35	chr5:179773600-179777600	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr5:179773600-179777600	Weak transcription	Right Ventricle	heart
37	chr5:179773600-179778400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:179773800-179775400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:179774000-179775600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr5:179774000-179775600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:179774200-179775600	ZNF genes & repeats	Fetal Stomach	stomach
42	chr5:179774200-179775800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:179774600-179775400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:179774600-179775400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:179774600-179775400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr5:179774600-179775400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr5:179774600-179775600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:179774600-179775600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:179774600-179775600	Enhancers	NH-A	brain
50	chr5:179774600-179776000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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