Variant report

Variant	rs10132579
Chromosome Location	chr14:68974277-68974278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68957700..68966900-chr14:68968037..68976020,15	MCF-7	breast:
2	chr14:68932713..68936271-chr14:68973321..68975311,3	MCF-7	breast:
3	chr14:68934261..68937173-chr14:68974215..68976515,2	MCF-7	breast:
4	chr14:68973059..68975623-chr14:68975838..68977423,2	MCF-7	breast:
5	chr14:68973167..68978172-chr14:69258473..69260680,4	MCF-7	breast:
6	chr14:68974039..68976954-chr14:68979393..68981766,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10131789	0.82[CHB][hapmap];0.97[GIH][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap]
rs10135398	0.81[CEU][hapmap]
rs1541390	0.97[GIH][hapmap];0.81[TSI][hapmap]
rs8015246	0.87[CHB][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

Variant related diseases (count:1)

Disease	PMID	Source
Breast cancer	23468962	GWAS catalog

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10132579	MED6	cis	cerebellum	SCAN
rs10132579	RAB15	cis	cerebellum	SCAN
rs10132579	FUT8	cis	parietal	SCAN
rs10132579	SYNJ2BP	cis	cerebellum	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68965400-68974400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:68965400-68976800	Enhancers	Fetal Thymus	thymus
3	chr14:68967400-68981600	Enhancers	Fetal Muscle Leg	muscle
4	chr14:68967400-68982400	Enhancers	Primary B cells from peripheral blood	blood
5	chr14:68967800-68974400	Enhancers	Fetal Stomach	stomach
6	chr14:68968000-68991200	Enhancers	Fetal Lung	lung
7	chr14:68968600-68974400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:68969800-68974800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:68971000-68983800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:68971400-68975400	Enhancers	Thymus	Thymus
11	chr14:68971600-68974400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:68971600-68975200	Enhancers	Primary B cells from cord blood	blood
13	chr14:68971800-68974600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr14:68971800-68975200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:68971800-68976200	Enhancers	Pancreas	Pancrea
16	chr14:68971800-68976800	Enhancers	Lung	lung
17	chr14:68971800-68981400	Enhancers	Fetal Muscle Trunk	muscle
18	chr14:68972000-68975400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:68972000-68975600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:68972000-68980200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:68972400-68974400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:68972400-68974400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:68972400-68974800	Enhancers	NHDF-Ad	bronchial
24	chr14:68972600-68974400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:68972600-68974400	Enhancers	Colon Smooth Muscle	Colon
26	chr14:68972600-68974600	Enhancers	Brain Hippocampus Middle	brain
27	chr14:68972600-68974600	Enhancers	Esophagus	oesophagus
28	chr14:68972600-68974600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr14:68972600-68974600	Enhancers	HMEC	breast
30	chr14:68972600-68974800	Enhancers	Brain Angular Gyrus	brain
31	chr14:68972600-68975200	Enhancers	HSMMtube	muscle
32	chr14:68972600-68975400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr14:68972600-68982000	Enhancers	Fetal Intestine Small	intestine
34	chr14:68972800-68974400	Flanking Active TSS	GM12878-XiMat	blood
35	chr14:68972800-68974600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr14:68972800-68974800	Enhancers	Brain Cingulate Gyrus	brain
37	chr14:68972800-68975000	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr14:68972800-68975000	Enhancers	Brain Substantia Nigra	brain
39	chr14:68972800-68975000	Enhancers	Fetal Intestine Large	intestine
40	chr14:68972800-68975000	Enhancers	Small Intestine	intestine
41	chr14:68972800-68975600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr14:68973000-68974400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr14:68973000-68974800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:68973000-68974800	Enhancers	Gastric	stomach
45	chr14:68973000-68975000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr14:68973000-68975400	Enhancers	Duodenum Mucosa	Duodenum
47	chr14:68973000-68975400	Enhancers	HepG2	liver
48	chr14:68973200-68974400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr14:68973200-68974600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:68973200-68974600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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