Variant report

Variant	rs73334055
Chromosome Location	chr5:179264379-179264380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179262940..179266304-chr5:179284329..179288957,4	K562	blood:
2	chr5:179253183..179254802-chr5:179263634..179265187,2	MCF-7	breast:
3	chr5:179263833..179265410-chr5:179333194..179335753,2	K562	blood:
4	chr5:179263394..179265820-chr5:179284622..179286791,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBC1D9B-1	chr5:179264274-179264879	NONHSAT105640

Variant related genes	Relation type
ENSG00000161010	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000197226	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55782074	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55986721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56225166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57713691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58652165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58713160	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60403632	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60462250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61613267	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61748794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73334031	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73334063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335948	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73351618	1.00[AMR][1000 genomes]
rs73810204	1.00[AMR][1000 genomes]
rs73810488	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv883275	chr5:179193598-179267783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
7	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
8	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
9	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
10	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
11	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179250200-179272000	Strong transcription	Fetal Muscle Leg	muscle
2	chr5:179250200-179272800	Weak transcription	Fetal Brain Male	brain
3	chr5:179251800-179267800	Strong transcription	Fetal Muscle Trunk	muscle
4	chr5:179255000-179268800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:179255200-179269000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:179255400-179266000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:179257000-179264400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:179257000-179265400	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr5:179258200-179274800	Weak transcription	Fetal Heart	heart
10	chr5:179261000-179266400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:179262400-179264800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:179262400-179266600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:179262400-179267000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr5:179262400-179267400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:179262400-179268600	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr5:179262400-179269000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:179262400-179269200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:179262400-179269400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:179262400-179269400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:179262400-179269400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:179262400-179269400	Strong transcription	Brain Angular Gyrus	brain
22	chr5:179262400-179271000	Strong transcription	Fetal Stomach	stomach
23	chr5:179262400-179271400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:179262400-179271600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:179262400-179272000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:179262600-179265400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:179262600-179266400	Strong transcription	Brain Cingulate Gyrus	brain
28	chr5:179262600-179269000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:179262600-179269000	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr5:179262600-179269200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:179262600-179279400	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr5:179262800-179266800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:179262800-179269200	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr5:179263000-179264400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
35	chr5:179263000-179264400	Strong transcription	Fetal Kidney	kidney
36	chr5:179263000-179264400	Strong transcription	K562	blood
37	chr5:179263000-179264600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:179263000-179264600	Genic enhancers	Duodenum Mucosa	Duodenum
39	chr5:179263000-179264800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:179263000-179264800	Genic enhancers	Lung	lung
41	chr5:179263000-179265000	Strong transcription	HUVEC	blood vessel
42	chr5:179263000-179265200	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr5:179263000-179265200	Strong transcription	HepG2	liver
44	chr5:179263000-179265400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:179263000-179265400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:179263000-179265400	Strong transcription	HSMMtube	muscle
47	chr5:179263000-179265400	Strong transcription	Osteobl	bone
48	chr5:179263000-179265600	Strong transcription	Aorta	Aorta
49	chr5:179263000-179265600	Genic enhancers	Liver	Liver
50	chr5:179263000-179265800	Strong transcription	Muscle Satellite Cultured Cells	--

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