Variant report

Variant	rs26060
Chromosome Location	chr5:14186708-14186709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14172374..14175679-chr5:14185951..14189494,3	MCF-7	breast:
2	chr5:14179287..14181889-chr5:14185448..14187309,2	MCF-7	breast:
3	chr5:14184247..14187128-chr5:14363897..14366486,2	K562	blood:
4	chr5:14166623..14168657-chr5:14184854..14187549,2	MCF-7	breast:
5	chr5:14143292..14145490-chr5:14185700..14188808,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs13184670	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151901	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151902	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164858	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17299506	1.00[ASN][1000 genomes]
rs187386	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245447	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245448	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245451	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs245470	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245512	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26057	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26059	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26061	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27665	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27759	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28010	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32335	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32339	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32341	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32388	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32389	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32390	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32391	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32394	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32395	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354285	1.00[ASN][1000 genomes]
rs354287	0.83[ASN][1000 genomes]
rs354288	1.00[ASN][1000 genomes]
rs354298	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354299	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354300	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354301	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354302	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs354310	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354311	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354312	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35594035	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs397098	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs407517	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424275	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs445553	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533517	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56235530	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1019196	chr5:13790760-14187503	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv1792551	chr5:14180257-14202590	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 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	chr5:14175000-14191600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:14177200-14189400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:14177400-14191800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:14178600-14187000	Enhancers	Left Ventricle	heart
5	chr5:14179200-14189800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:14180800-14186800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:14181000-14187600	Enhancers	HUVEC	blood vessel
8	chr5:14181200-14189200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:14181400-14187600	Enhancers	Fetal Muscle Leg	muscle
10	chr5:14181400-14188600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr5:14181400-14189800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:14181400-14191800	Enhancers	Fetal Heart	heart
13	chr5:14181600-14189000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:14182000-14190200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:14182200-14187200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:14182400-14187200	Enhancers	Brain Anterior Caudate	brain
17	chr5:14182800-14187600	Enhancers	Brain Hippocampus Middle	brain
18	chr5:14182800-14188600	Enhancers	Adipose Nuclei	Adipose
19	chr5:14183000-14186800	Enhancers	Brain Angular Gyrus	brain
20	chr5:14183000-14187000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr5:14183000-14187200	Enhancers	Psoas Muscle	Psoas
22	chr5:14183000-14187400	Enhancers	Right Atrium	heart
23	chr5:14183000-14187600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr5:14183000-14189200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:14183200-14186800	Enhancers	Brain Germinal Matrix	brain
26	chr5:14183200-14187000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:14183400-14186800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:14183600-14193000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr5:14183800-14186800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr5:14183800-14186800	Flanking Active TSS	A549	lung
31	chr5:14184000-14187000	Enhancers	Right Ventricle	heart
32	chr5:14184000-14191400	Weak transcription	Fetal Intestine Large	intestine
33	chr5:14184400-14187200	Enhancers	Brain Cingulate Gyrus	brain
34	chr5:14184400-14187600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr5:14184400-14190000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:14184400-14197200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr5:14184600-14187000	Weak transcription	Fetal Kidney	kidney
38	chr5:14184600-14187200	Enhancers	Ovary	ovary
39	chr5:14184600-14202600	Weak transcription	Fetal Intestine Small	intestine
40	chr5:14184800-14186800	Flanking Active TSS	Hela-S3	cervix
41	chr5:14184800-14187400	Enhancers	GM12878-XiMat	blood
42	chr5:14184800-14188400	Enhancers	Colon Smooth Muscle	Colon
43	chr5:14185000-14187200	Flanking Active TSS	HSMM	muscle
44	chr5:14185000-14190000	Enhancers	Rectal Smooth Muscle	rectum
45	chr5:14185400-14186800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:14185400-14186800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:14185400-14187200	Enhancers	Spleen	Spleen
48	chr5:14185400-14187400	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr5:14185400-14188400	Flanking Active TSS	NHEK	skin
50	chr5:14185600-14187200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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