Variant report

Variant	rs153612
Chromosome Location	chr5:115633232-115633233
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115632385..115634405-chr5:115635053..115637473,2	K562	blood:
2	chr5:115630950..115633524-chr5:115633964..115636710,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1090076	0.86[JPT][hapmap]
rs153578	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs153591	0.84[ASN][1000 genomes]
rs153592	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs153614	0.85[JPT][hapmap]
rs1677395	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs168833	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs194182	0.80[JPT][hapmap]
rs253960	0.83[JPT][hapmap]
rs254154	0.84[ASN][1000 genomes]
rs27499	0.84[ASN][1000 genomes]
rs28083	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28125	0.90[JPT][hapmap]
rs37182	0.85[JPT][hapmap]
rs712580	0.80[ASN][1000 genomes]
rs784480	0.93[CEU][hapmap];0.86[YRI][hapmap]
rs784482	0.90[JPT][hapmap]
rs804141	0.86[JPT][hapmap]

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	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882743	chr5:115501792-115634127	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv882747	chr5:115566636-115662510	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2755740	chr5:115576139-115633474	ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv2757134	chr5:115578810-115633474	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv2759372	chr5:115578810-115633474	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv882748	chr5:115584159-115669950	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv2752575	chr5:115596277-115633474	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115613400-115641600	Weak transcription	HSMM	muscle
2	chr5:115624400-115633600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:115625600-115633600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:115625600-115633800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:115625600-115634000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:115625600-115639200	Weak transcription	Fetal Stomach	stomach
7	chr5:115625600-115643000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:115626400-115633400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:115626400-115633800	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:115626600-115633600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr5:115626600-115641600	Weak transcription	Fetal Brain Male	brain
12	chr5:115626800-115642200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:115627000-115633400	Weak transcription	Fetal Lung	lung
14	chr5:115627000-115633800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:115627200-115635200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:115627400-115633600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:115627800-115639200	Weak transcription	Placenta	Placenta
18	chr5:115628000-115643800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:115628400-115633400	Weak transcription	Fetal Kidney	kidney
20	chr5:115628400-115639200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:115628400-115641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:115628600-115633400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:115628600-115639400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:115628600-115643400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:115628800-115633600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:115629000-115643800	Weak transcription	HUVEC	blood vessel
27	chr5:115629400-115638200	Weak transcription	Pancreas	Pancrea
28	chr5:115629400-115638400	Weak transcription	Right Ventricle	heart
29	chr5:115630000-115633600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr5:115630600-115633400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:115630800-115633600	Weak transcription	Esophagus	oesophagus
32	chr5:115630800-115633600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:115630800-115634000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:115631400-115636200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:115631400-115637800	Weak transcription	Fetal Thymus	thymus
36	chr5:115631600-115633400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:115631800-115633600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:115631800-115640600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:115631800-115641800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:115632000-115634200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
41	chr5:115632000-115634800	ZNF genes & repeats	Primary T cells from cord blood	blood
42	chr5:115632000-115639200	Weak transcription	Lung	lung
43	chr5:115632000-115643000	Weak transcription	NH-A	brain
44	chr5:115632200-115633600	Strong transcription	Adipose Nuclei	Adipose
45	chr5:115632200-115634000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
46	chr5:115632200-115634600	ZNF genes & repeats	Primary B cells from cord blood	blood
47	chr5:115632200-115635600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:115632400-115633400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr5:115632400-115634200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
50	chr5:115632600-115633600	Weak transcription	Brain Cingulate Gyrus	brain

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