Variant report

Variant	rs11626015
Chromosome Location	chr14:68931380-68931381
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68815262..68818162-chr14:68930944..68932946,2	MCF-7	breast:
2	chr14:68929507..68933385-chr14:68987583..68991137,3	MCF-7	breast:
3	chr14:68930531..68933469-chr14:69030065..69032350,2	MCF-7	breast:
4	chr14:68930492..68947840-chr14:69251918..69264148,62	MCF-7	breast:
5	chr14:68930105..68933005-chr14:69055424..69057874,3	MCF-7	breast:
6	chr14:68713812..68718253-chr14:68930214..68933178,5	MCF-7	breast:
7	chr14:68917244..68919949-chr14:68930755..68933686,2	MCF-7	breast:
8	chr14:68924822..68938526-chr14:69257377..69265713,29	MCF-7	breast:
9	chr14:68930789..68933510-chr14:69282666..69285541,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10129349	1.00[MEX][hapmap]
rs10130623	0.92[ASN][1000 genomes]
rs10131303	0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10133531	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[ASN][1000 genomes]
rs10135443	0.88[ASN][1000 genomes]
rs10142381	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10144394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145082	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10145446	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10149278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11622203	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11625077	0.88[ASN][1000 genomes]
rs11626013	0.88[ASN][1000 genomes]
rs11846851	0.88[ASN][1000 genomes]
rs11850581	1.00[CEU][hapmap]
rs12323677	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1570107	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17105494	1.00[GIH][hapmap]
rs17105501	1.00[GIH][hapmap]
rs17105545	0.85[CHD][hapmap];1.00[GIH][hapmap]
rs17105573	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs17105601	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs17105664	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28376370	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28655994	0.88[ASN][1000 genomes]
rs3784127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60145217	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7142184	0.88[ASN][1000 genomes]
rs73276276	0.85[ASN][1000 genomes]
rs7359118	1.00[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11626015	ACTN1	cis	lymphoblastoid	seeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68922200-68937600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:68924800-68936000	Enhancers	HSMM	muscle
3	chr14:68925000-68935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:68926000-68933000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:68926000-68935000	Weak transcription	Fetal Thymus	thymus
6	chr14:68926000-68935200	Weak transcription	Gastric	stomach
7	chr14:68926200-68931600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:68926200-68931600	Weak transcription	Placenta	Placenta
9	chr14:68926200-68931600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:68926200-68933000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:68926200-68933200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:68926200-68935000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:68926200-68940000	Weak transcription	Ovary	ovary
14	chr14:68926400-68931400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:68926400-68933000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr14:68926400-68933200	Enhancers	HSMMtube	muscle
17	chr14:68926400-68933400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr14:68926600-68931600	Enhancers	A549	lung
19	chr14:68926600-68933200	Weak transcription	Fetal Stomach	stomach
20	chr14:68926600-68935600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr14:68926800-68933200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:68926800-68933200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:68926800-68933200	Weak transcription	Fetal Intestine Small	intestine
24	chr14:68926800-68937600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr14:68927000-68936600	Weak transcription	Primary B cells from cord blood	blood
26	chr14:68927400-68933000	Weak transcription	Lung	lung
27	chr14:68927400-68933200	Weak transcription	Spleen	Spleen
28	chr14:68927400-68935000	Weak transcription	Esophagus	oesophagus
29	chr14:68927600-68931600	Weak transcription	Pancreas	Pancrea
30	chr14:68927600-68933000	Weak transcription	Fetal Lung	lung
31	chr14:68927600-68933000	Weak transcription	Left Ventricle	heart
32	chr14:68927600-68933000	Weak transcription	Stomach Mucosa	stomach
33	chr14:68927600-68933200	Weak transcription	Right Atrium	heart
34	chr14:68927600-68943800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr14:68927800-68933000	Weak transcription	Colon Smooth Muscle	Colon
36	chr14:68927800-68934200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr14:68928000-68931400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:68928000-68931600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:68928000-68933000	Weak transcription	Adipose Nuclei	Adipose
40	chr14:68928200-68933000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr14:68928400-68939400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:68928600-68949000	Weak transcription	Thymus	Thymus
43	chr14:68928800-68933200	Weak transcription	Fetal Muscle Leg	muscle
44	chr14:68929000-68937200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:68929200-68932000	Enhancers	NHEK	skin
46	chr14:68929400-68932800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr14:68929400-68933000	Weak transcription	Psoas Muscle	Psoas
48	chr14:68929400-68933000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:68929400-68938000	Enhancers	HMEC	breast
50	chr14:68929800-68931600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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