Variant report

Variant	rs12717531
Chromosome Location	chr14:68879787-68879788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68878300..68881493-chr14:69259065..69264364,5	MCF-7	breast:
2	chr14:68879521..68881175-chr14:69256240..69258529,2	MCF-7	breast:
3	chr14:68878806..68882787-chr14:68883968..68886756,5	MCF-7	breast:
4	chr14:68656816..68658573-chr14:68879129..68882027,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10132294	0.90[GIH][hapmap];0.81[MEX][hapmap]
rs10135247	0.87[CEU][hapmap]
rs10136055	0.87[CEU][hapmap];0.89[GIH][hapmap]
rs10146058	0.83[GIH][hapmap]
rs10146321	0.88[CEU][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10146772	0.82[JPT][hapmap]
rs10162434	1.00[CEU][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11158743	1.00[CEU][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes]
rs12883132	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886429	0.83[GIH][hapmap]
rs12888301	0.87[CEU][hapmap]
rs12889666	0.90[MEX][hapmap]
rs12889770	0.89[GIH][hapmap];0.90[MEX][hapmap]
rs12894080	0.90[MEX][hapmap]
rs17105554	0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs17105586	0.82[JPT][hapmap]
rs2331701	0.86[JPT][hapmap]
rs2877465	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3784117	0.81[CHB][hapmap];1.00[MEX][hapmap]
rs3784120	0.90[MEX][hapmap]
rs3784122	0.87[CEU][hapmap];0.89[GIH][hapmap]
rs3784123	0.87[CEU][hapmap]
rs3784131	0.87[CEU][hapmap]
rs4902591	0.81[AMR][1000 genomes]

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
rs12717531	ACTN1	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68867200-68886400	Weak transcription	Dnd41	blood
2	chr14:68868200-68887200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:68871800-68880800	Weak transcription	Fetal Lung	lung
4	chr14:68872200-68883400	Weak transcription	Esophagus	oesophagus
5	chr14:68873400-68883800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:68874800-68880400	Weak transcription	Small Intestine	intestine
7	chr14:68875000-68883800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:68875000-68883800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:68875400-68881400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:68875400-68884200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:68876000-68880000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:68876200-68879800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:68876400-68880800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:68876400-68882000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:68877000-68880400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:68877000-68885600	Weak transcription	Primary T cells from cord blood	blood
17	chr14:68877000-68886000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:68877200-68881800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr14:68877200-68890600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr14:68877400-68880400	Weak transcription	Ovary	ovary
21	chr14:68877400-68881200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:68877400-68881800	Weak transcription	Fetal Muscle Leg	muscle
23	chr14:68877400-68882000	Weak transcription	Pancreas	Pancrea
24	chr14:68877400-68882800	Weak transcription	Primary B cells from cord blood	blood
25	chr14:68877400-68885200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:68878600-68880200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:68878600-68880400	Enhancers	HMEC	breast
28	chr14:68878800-68880200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:68878800-68880200	Enhancers	NHEK	skin
30	chr14:68879000-68879800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:68879000-68879800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr14:68879000-68880200	Enhancers	NH-A	brain
33	chr14:68879000-68880200	Enhancers	NHLF	lung
34	chr14:68879000-68880600	Enhancers	Duodenum Mucosa	Duodenum
35	chr14:68879000-68881400	Enhancers	Hela-S3	cervix
36	chr14:68879200-68880000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:68879200-68881400	Enhancers	Fetal Intestine Large	intestine
38	chr14:68879200-68882400	Enhancers	Fetal Intestine Small	intestine
39	chr14:68879400-68880200	Enhancers	HUVEC	blood vessel
40	chr14:68879400-68881000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:68879400-68881000	Enhancers	K562	blood
42	chr14:68879400-68882600	Enhancers	Stomach Mucosa	stomach
43	chr14:68879600-68880000	Enhancers	A549	lung
44	chr14:68879600-68880600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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