Variant report

Variant	rs7157481
Chromosome Location	chr14:25453920-25453921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:25452953..25454512-chr14:25455893..25457917,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10131274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10134818	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10137405	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151968	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1062230	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11625143	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11850957	0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1555598	0.83[AFR][1000 genomes]
rs17185460	0.86[CEU][hapmap];0.95[YRI][hapmap]
rs7143179	0.86[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7147250	0.88[ASN][1000 genomes]
rs7147314	0.91[ASN][1000 genomes]
rs73595340	0.91[ASN][1000 genomes]
rs73595341	0.91[ASN][1000 genomes]
rs8009162	1.00[ASW][hapmap];0.86[CEU][hapmap];0.92[LWK][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs8011948	1.00[ASW][hapmap];0.86[CEU][hapmap];0.87[LWK][hapmap];0.95[MKK][hapmap];0.89[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9323580	0.91[CEU][hapmap];0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1041051	chr14:25388230-25480511	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1047792	chr14:25388933-25503799	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7157481	PKMYT1	trans	parietal	SCAN
rs7157481	STXBP6	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25424600-25460600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr14:25430000-25465800	Weak transcription	Lung	lung
3	chr14:25436600-25454200	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:25436600-25454400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:25436600-25455400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:25441000-25454200	Weak transcription	Fetal Brain Male	brain
7	chr14:25444200-25454600	Weak transcription	Right Atrium	heart
8	chr14:25445200-25454200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:25445600-25454600	Weak transcription	Brain Anterior Caudate	brain
10	chr14:25449200-25454200	Weak transcription	Fetal Heart	heart
11	chr14:25451800-25454400	Weak transcription	Left Ventricle	heart
12	chr14:25451800-25454400	Weak transcription	Pancreas	Pancrea
13	chr14:25451800-25454600	Weak transcription	Psoas Muscle	Psoas
14	chr14:25451800-25456800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:25451800-25470200	Weak transcription	HSMMtube	muscle
16	chr14:25452000-25454200	Weak transcription	Right Ventricle	heart
17	chr14:25452000-25454400	Weak transcription	Placenta	Placenta
18	chr14:25452200-25454000	Weak transcription	Colon Smooth Muscle	Colon
19	chr14:25452200-25459000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:25452400-25454000	Weak transcription	Colonic Mucosa	Colon
21	chr14:25452400-25454200	Weak transcription	Stomach Mucosa	stomach
22	chr14:25452400-25455400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:25452400-25455800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:25452600-25456000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr14:25452800-25454000	Weak transcription	Fetal Lung	lung
26	chr14:25452800-25454800	Weak transcription	HepG2	liver
27	chr14:25452800-25470000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr14:25453200-25455000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr14:25453200-25456200	Enhancers	Small Intestine	intestine
30	chr14:25453400-25454400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr14:25453400-25454400	Enhancers	K562	blood
32	chr14:25453400-25456000	Enhancers	Fetal Intestine Small	intestine
33	chr14:25453600-25454400	Strong transcription	HSMM	muscle
34	chr14:25453600-25455000	Enhancers	Rectal Smooth Muscle	rectum
35	chr14:25453600-25455800	Enhancers	Fetal Intestine Large	intestine
36	chr14:25453600-25456400	Enhancers	Duodenum Mucosa	Duodenum
37	chr14:25453800-25454800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr14:25453800-25455000	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr14:25453800-25455000	Enhancers	HUVEC	blood vessel

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