Variant report

Variant	rs6891552
Chromosome Location	chr5:14249722-14249723
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14247745..14252723-chr5:14254933..14257114,4	MCF-7	breast:
2	chr5:14234443..14236446-chr5:14248979..14250681,2	MCF-7	breast:
3	chr5:14242667..14245241-chr5:14248940..14251910,2	K562	blood:
4	chr5:14245041..14247685-chr5:14248600..14251255,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10062003	0.85[AMR][1000 genomes]
rs10065184	0.85[AMR][1000 genomes]
rs11958958	0.88[YRI][hapmap];0.87[AMR][1000 genomes]
rs16903317	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16903319	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16903330	0.86[AFR][1000 genomes]
rs60384021	0.85[AMR][1000 genomes]
rs60615600	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61737132	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055570	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73055575	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73055577	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73055578	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73055592	0.87[AMR][1000 genomes]
rs73055595	0.87[AMR][1000 genomes]
rs73055596	0.87[AMR][1000 genomes]
rs73055600	0.87[AMR][1000 genomes]
rs73055601	0.87[AMR][1000 genomes]
rs73057505	0.87[AMR][1000 genomes]
rs73057508	0.87[AMR][1000 genomes]
rs73057511	0.87[AMR][1000 genomes]
rs73057512	0.87[AMR][1000 genomes]
rs73057521	0.87[AMR][1000 genomes]
rs73057526	0.87[AMR][1000 genomes]
rs73057539	0.87[AMR][1000 genomes]
rs73057554	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73057562	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73057593	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057602	1.00[AMR][1000 genomes]
rs73059509	0.85[AMR][1000 genomes]
rs73059523	0.85[AMR][1000 genomes]
rs73059530	0.85[AMR][1000 genomes]
rs73059536	0.85[AMR][1000 genomes]
rs73059538	0.85[AMR][1000 genomes]
rs73059545	1.00[AMR][1000 genomes]
rs73059562	0.85[AMR][1000 genomes]
rs73059564	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14234600-14250200	Weak transcription	Placenta	Placenta
2	chr5:14238000-14250000	Weak transcription	HepG2	liver
3	chr5:14238000-14252400	Weak transcription	NHEK	skin
4	chr5:14238600-14250200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:14242600-14250200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:14243600-14250000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:14245800-14252400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:14246000-14249800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:14246000-14250000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:14246800-14250000	Weak transcription	Thymus	Thymus
11	chr5:14247200-14249800	Weak transcription	Adipose Nuclei	Adipose
12	chr5:14247200-14250000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:14247200-14256800	Weak transcription	Stomach Mucosa	stomach
14	chr5:14247400-14249800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:14247400-14250000	Weak transcription	Liver	Liver
16	chr5:14247400-14250000	Weak transcription	HMEC	breast
17	chr5:14247400-14250200	Weak transcription	Pancreas	Pancrea
18	chr5:14247400-14254600	Weak transcription	Hela-S3	cervix
19	chr5:14247400-14257000	Weak transcription	Gastric	stomach
20	chr5:14248400-14250400	Enhancers	Osteobl	bone
21	chr5:14248400-14252000	Genic enhancers	HSMM	muscle
22	chr5:14248400-14252600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:14248400-14253800	Enhancers	Fetal Muscle Trunk	muscle
24	chr5:14248400-14255400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:14248600-14249800	Enhancers	Brain Germinal Matrix	brain
26	chr5:14248600-14249800	Enhancers	Brain Hippocampus Middle	brain
27	chr5:14248600-14250000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr5:14248600-14250000	Enhancers	Fetal Muscle Leg	muscle
29	chr5:14248600-14250000	Enhancers	GM12878-XiMat	blood
30	chr5:14248600-14250400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr5:14248600-14250400	Enhancers	Ovary	ovary
32	chr5:14248600-14250400	Enhancers	NH-A	brain
33	chr5:14248600-14250600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:14248600-14250800	Enhancers	Right Ventricle	heart
35	chr5:14248600-14251000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:14248600-14251000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:14248600-14251000	Enhancers	Left Ventricle	heart
38	chr5:14248600-14251000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr5:14248600-14251200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr5:14248600-14251800	Enhancers	HSMMtube	muscle
41	chr5:14248600-14255000	Enhancers	Psoas Muscle	Psoas
42	chr5:14248800-14249800	Genic enhancers	Primary B cells from cord blood	blood
43	chr5:14248800-14250600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr5:14248800-14250600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:14248800-14250600	Enhancers	A549	lung
46	chr5:14248800-14251000	Enhancers	Right Atrium	heart
47	chr5:14248800-14251800	Enhancers	Spleen	Spleen
48	chr5:14248800-14253000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr5:14248800-14253000	Enhancers	Primary B cells from peripheral blood	blood
50	chr5:14248800-14253800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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