Variant report

Variant	rs27367
Chromosome Location	chr5:14192729-14192730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14142390..14144382-chr5:14192692..14194445,2	MCF-7	breast:
2	chr5:14190934..14193452-chr5:14204987..14206665,2	K562	blood:
3	chr5:14188839..14190409-chr5:14192288..14195221,2	MCF-7	breast:
4	chr5:14190950..14193183-chr5:14195167..14198577,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs152781	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs164109	0.81[YRI][hapmap]
rs245513	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2463803	0.82[CEU][hapmap]
rs26290	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs26292	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27632	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27666	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs32977	1.00[CEU][hapmap]
rs32978	1.00[CEU][hapmap]
rs32979	1.00[CEU][hapmap]
rs33028	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33029	1.00[CEU][hapmap];0.94[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33030	1.00[CEU][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs348113	1.00[CEU][hapmap]
rs348116	1.00[CEU][hapmap]
rs40298	1.00[CEU][hapmap]
rs42289	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62344640	0.97[EUR][1000 genomes]
rs62346562	0.94[EUR][1000 genomes]
rs696289	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs696290	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][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	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	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
3	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
4	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
5	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
6	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
7	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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14183600-14193000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr5:14184400-14197200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:14184600-14202600	Weak transcription	Fetal Intestine Small	intestine
4	chr5:14185600-14194200	Enhancers	NHDF-Ad	bronchial
5	chr5:14186000-14199800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:14186000-14200000	Weak transcription	Esophagus	oesophagus
7	chr5:14186600-14196600	Weak transcription	Brain Substantia Nigra	brain
8	chr5:14187200-14193800	Weak transcription	Spleen	Spleen
9	chr5:14187200-14195400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:14187600-14193800	Weak transcription	Primary B cells from cord blood	blood
11	chr5:14188000-14199800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:14188800-14204000	Weak transcription	Fetal Kidney	kidney
13	chr5:14189000-14193800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:14189000-14197000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:14189000-14203600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr5:14189200-14197000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:14189800-14193000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:14189800-14193400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:14190400-14195400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:14190600-14194800	Enhancers	Rectal Smooth Muscle	rectum
21	chr5:14190800-14195600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:14190800-14196800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:14190800-14196800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:14190800-14197000	Weak transcription	Fetal Brain Male	brain
25	chr5:14190800-14199600	Weak transcription	Brain Anterior Caudate	brain
26	chr5:14190800-14199800	Weak transcription	HepG2	liver
27	chr5:14191000-14193800	Weak transcription	Small Intestine	intestine
28	chr5:14191000-14195200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:14191000-14197000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:14191000-14197000	Weak transcription	Fetal Lung	lung
31	chr5:14191200-14192800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:14191200-14193000	Weak transcription	Brain Germinal Matrix	brain
33	chr5:14191200-14193600	Weak transcription	Fetal Stomach	stomach
34	chr5:14191200-14193600	Enhancers	Osteobl	bone
35	chr5:14191200-14194000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:14191200-14194200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:14191200-14194800	Enhancers	HUVEC	blood vessel
38	chr5:14191200-14195400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:14191200-14197200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr5:14191200-14199600	Weak transcription	Brain Angular Gyrus	brain
41	chr5:14191200-14200200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr5:14191400-14193600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:14191400-14193800	Enhancers	HSMM	muscle
44	chr5:14191400-14193800	Enhancers	HSMMtube	muscle
45	chr5:14191400-14193800	Enhancers	NHLF	lung
46	chr5:14191400-14194000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:14191400-14194400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:14191400-14194400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr5:14191400-14195200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:14191400-14195200	Weak transcription	Fetal Brain Female	brain

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