Variant report

Variant	rs12521533
Chromosome Location	chr5:179448891-179448892
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179448841..179450678-chr5:179458129..179460893,2	MCF-7	breast:
2	chr5:179448140..179451740-chr5:179497832..179501110,4	MCF-7	breast:
3	chr5:179443209..179445457-chr5:179448507..179450019,2	K562	blood:
4	chr5:179447316..179449244-chr5:179516942..179519007,2	MCF-7	breast:
5	chr5:179443617..179446152-chr5:179448678..179450322,2	MCF-7	breast:
6	chr5:179447593..179449240-chr5:179494400..179496143,2	MCF-7	breast:
7	chr5:179439567..179442502-chr5:179447690..179450010,2	MCF-7	breast:
8	chr5:179448515..179449607-chr5:179517585..179518817,9	MCF-7	breast:
9	chr5:179448640..179449492-chr5:179517155..179518787,5	MCF-7	breast:
10	chr5:179232497..179234791-chr5:179448206..179450575,2	MCF-7	breast:
11	chr5:179442610..179444709-chr5:179448350..179450019,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000161011	Chromatin interaction
ENSG00000161013	Chromatin interaction
ENSG00000198995	Chromatin interaction
ENSG00000113269	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12520005	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12520130	0.90[AFR][1000 genomes]
rs17079813	1.00[AMR][1000 genomes]
rs28578757	1.00[AMR][1000 genomes]
rs34823714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58493575	1.00[AMR][1000 genomes]
rs58548426	1.00[AMR][1000 genomes]
rs73335521	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73338298	1.00[AMR][1000 genomes]
rs73342216	1.00[AMR][1000 genomes]
rs73344340	1.00[AMR][1000 genomes]
rs73348275	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73350175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73351782	0.85[AFR][1000 genomes]
rs73810998	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv830561	chr5:179365637-179537012	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
6	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
7	nsv1024592	chr5:179443133-179510642	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179396600-179461800	Weak transcription	HSMM	muscle
2	chr5:179405200-179453400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:179421800-179462400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:179428600-179462200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:179429400-179452800	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:179429800-179462400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr5:179429800-179463000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:179429800-179463200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:179429800-179482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:179430000-179453000	Weak transcription	NH-A	brain
11	chr5:179430600-179462400	Weak transcription	HepG2	liver
12	chr5:179435400-179453400	Weak transcription	Right Atrium	heart
13	chr5:179435800-179454600	Weak transcription	K562	blood
14	chr5:179436200-179449200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr5:179436200-179450600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr5:179437600-179462600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:179438000-179466400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:179439200-179452600	Weak transcription	HUVEC	blood vessel
19	chr5:179439600-179453400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:179440000-179451000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr5:179440000-179453400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:179440200-179457600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:179440200-179462600	Weak transcription	Fetal Intestine Large	intestine
24	chr5:179440600-179462400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:179443400-179452200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:179443800-179451200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:179444000-179452000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:179444200-179453400	Weak transcription	Brain Angular Gyrus	brain
29	chr5:179444600-179449200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr5:179445400-179449200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:179445800-179449800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:179446000-179451800	Weak transcription	Psoas Muscle	Psoas
33	chr5:179446000-179452600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:179446000-179462200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:179446400-179449000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:179446400-179449200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr5:179446600-179450200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:179446600-179450400	Weak transcription	Adipose Nuclei	Adipose
39	chr5:179447000-179449000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:179447000-179449800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:179447200-179451600	Weak transcription	Fetal Brain Male	brain
42	chr5:179447400-179451000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:179447600-179449000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr5:179447600-179449400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:179447600-179451800	Weak transcription	Brain Anterior Caudate	brain
46	chr5:179447600-179451800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:179447600-179453400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:179447600-179453400	Weak transcription	Pancreas	Pancrea
49	chr5:179447600-179454000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:179447600-179454000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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