Variant report

Variant	rs10067073
Chromosome Location	chr5:179495265-179495266
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179447593..179449240-chr5:179494400..179496143,2	MCF-7	breast:
2	chr5:179481868..179484254-chr5:179494865..179496879,2	MCF-7	breast:
3	chr5:179494887..179496936-chr5:179502532..179505071,2	MCF-7	breast:
4	chr5:179494847..179497645-chr5:179497864..179501359,4	K562	blood:

Variant related genes	Relation type
ENSG00000113269	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10072792	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10078845	1.00[CEU][hapmap]
rs10479556	1.00[CEU][hapmap];0.81[YRI][hapmap]
rs10479558	1.00[CEU][hapmap]
rs10479559	1.00[CEU][hapmap]
rs10479560	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10516141	1.00[CEU][hapmap];0.92[YRI][hapmap]
rs12514260	1.00[CEU][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs12516233	1.00[CEU][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs12516364	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs12516629	1.00[CEU][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes]
rs12516767	1.00[CEU][hapmap];0.85[YRI][hapmap]
rs12521819	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13354862	1.00[CEU][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13362131	1.00[CEU][hapmap];0.81[YRI][hapmap]
rs1345085	1.00[CEU][hapmap]
rs17079941	1.00[CEU][hapmap];0.82[YRI][hapmap]
rs1808088	1.00[CEU][hapmap]
rs28478989	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4623110	1.00[CEU][hapmap]
rs57144908	0.81[AFR][1000 genomes]
rs58286692	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59150995	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59668758	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs60044157	0.90[EUR][1000 genomes]
rs60388708	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73350172	0.82[AFR][1000 genomes]
rs9654545	1.00[CEU][hapmap]

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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179472400-179496600	Weak transcription	Stomach Mucosa	stomach
2	chr5:179474000-179496200	Weak transcription	Primary B cells from cord blood	blood
3	chr5:179476000-179497800	Weak transcription	Lung	lung
4	chr5:179476400-179496800	Weak transcription	Right Ventricle	heart
5	chr5:179478000-179496800	Weak transcription	Right Atrium	heart
6	chr5:179479800-179496800	Weak transcription	Psoas Muscle	Psoas
7	chr5:179480600-179496400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr5:179481200-179496600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:179482600-179496600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:179484200-179496400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:179486800-179496800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:179488600-179496800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:179491000-179495400	Weak transcription	HepG2	liver
14	chr5:179493800-179496200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:179494000-179495600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr5:179494000-179496000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:179494000-179496000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:179494000-179496400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:179494000-179496600	Enhancers	Fetal Lung	lung
20	chr5:179494000-179497200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:179494200-179495600	Enhancers	K562	blood
22	chr5:179494200-179496400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:179494200-179496800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:179494200-179496800	Enhancers	Liver	Liver
25	chr5:179494400-179495600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:179494600-179495400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:179494600-179495400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:179494600-179495400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr5:179494600-179496400	Enhancers	Colon Smooth Muscle	Colon
30	chr5:179494600-179496600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr5:179494800-179495400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:179494800-179495400	Enhancers	Pancreas	Pancrea
33	chr5:179494800-179495600	Enhancers	Stomach Smooth Muscle	stomach
34	chr5:179494800-179495800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:179494800-179495800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr5:179494800-179495800	Active TSS	Brain Angular Gyrus	brain
37	chr5:179494800-179495800	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr5:179494800-179495800	Enhancers	NHEK	skin
39	chr5:179494800-179496600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:179494800-179497000	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr5:179494800-179498400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:179495000-179495400	Enhancers	H9 Cell Line	embryonic stem cell
43	chr5:179495000-179495400	Active TSS	Brain Anterior Caudate	brain
44	chr5:179495000-179495400	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr5:179495000-179495400	Flanking Active TSS	Fetal Brain Male	brain
46	chr5:179495000-179495400	Flanking Active TSS	Fetal Brain Female	brain
47	chr5:179495000-179495600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr5:179495000-179495600	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr5:179495000-179495600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:179495000-179495600	Enhancers	Adipose Nuclei	Adipose

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