Variant report

Variant	rs1274955
Chromosome Location	chr14:69289312-69289313
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69281086..69282985-chr14:69289138..69291882,2	K562	blood:
2	chr14:68406502..68410391-chr14:69284099..69289375,6	MCF-7	breast:
3	chr14:69284387..69286906-chr14:69288096..69291991,4	K562	blood:
4	chr14:69281839..69285044-chr14:69286277..69289446,3	MCF-7	breast:
5	chr14:69036503..69037040-chr14:69289209..69289772,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10139199	0.85[CEU][hapmap];0.84[GIH][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147199	1.00[ASN][1000 genomes]
rs12147461	1.00[ASN][1000 genomes]
rs1296535	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1898320	1.00[ASN][1000 genomes]
rs194713	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs194732	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.81[MKK][hapmap];0.89[TSI][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs194740	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs194742	0.95[AFR][1000 genomes]
rs194743	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs194745	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2164627	1.00[ASN][1000 genomes]
rs4899260	0.85[CEU][hapmap];0.84[GIH][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899262	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902649	1.00[ASN][1000 genomes]
rs4902652	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55885232	1.00[ASN][1000 genomes]
rs56020080	1.00[ASN][1000 genomes]
rs56119720	1.00[ASN][1000 genomes]
rs58638884	1.00[ASN][1000 genomes]
rs72731537	1.00[ASN][1000 genomes]
rs72731539	1.00[ASN][1000 genomes]
rs72731544	1.00[ASN][1000 genomes]
rs72731547	1.00[ASN][1000 genomes]
rs72731549	1.00[ASN][1000 genomes]
rs72731550	1.00[ASN][1000 genomes]
rs72731551	1.00[ASN][1000 genomes]
rs72731554	1.00[ASN][1000 genomes]
rs72731565	1.00[ASN][1000 genomes]
rs72731567	1.00[ASN][1000 genomes]
rs72731576	1.00[ASN][1000 genomes]
rs72731577	1.00[ASN][1000 genomes]
rs72731579	1.00[ASN][1000 genomes]
rs72731581	1.00[ASN][1000 genomes]
rs8019383	0.85[CEU][hapmap];0.84[GIH][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971290	1.00[ASN][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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	nsv902071	chr14:69288432-69328594	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv902072	chr14:69288432-69329149	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv902073	chr14:69288432-69331065	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1274955	SMOC1	cis	cerebellum	SCAN
rs1274955	Hs.304334	cis	multi-tissue	Pritchard
rs1274955	KIAA0247	cis	parietal	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69283600-69289600	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr14:69283800-69289400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:69283800-69289600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr14:69283800-69291200	Weak transcription	Brain Germinal Matrix	brain
5	chr14:69284000-69289600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:69284000-69291200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr14:69284000-69291200	Weak transcription	Right Atrium	heart
8	chr14:69284000-69291400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:69284000-69291400	Weak transcription	HSMM	muscle
10	chr14:69284000-69300200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:69284200-69291400	Weak transcription	Osteobl	bone
12	chr14:69284200-69305600	Weak transcription	HSMMtube	muscle
13	chr14:69284400-69291200	Weak transcription	Adipose Nuclei	Adipose
14	chr14:69284400-69291400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:69284600-69291200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:69284800-69289800	Weak transcription	Pancreas	Pancrea
17	chr14:69285200-69291800	Enhancers	Fetal Muscle Leg	muscle
18	chr14:69285400-69289600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:69285800-69289400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr14:69285800-69290000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr14:69285800-69290000	Enhancers	Fetal Thymus	thymus
22	chr14:69286000-69289600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:69286000-69291400	Weak transcription	NHDF-Ad	bronchial
24	chr14:69286000-69291800	Enhancers	Fetal Muscle Trunk	muscle
25	chr14:69286200-69289600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr14:69286200-69289800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:69286400-69291400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:69286600-69290800	Weak transcription	Ovary	ovary
29	chr14:69286800-69291200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:69286800-69291200	Weak transcription	NHLF	lung
31	chr14:69286800-69291400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:69286800-69291400	Weak transcription	Fetal Heart	heart
33	chr14:69286800-69291400	Weak transcription	NH-A	brain
34	chr14:69286800-69291800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr14:69287000-69291200	Weak transcription	Lung	lung
36	chr14:69287000-69291200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr14:69287000-69291400	Weak transcription	Colonic Mucosa	Colon
38	chr14:69287000-69291400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr14:69287000-69292000	Enhancers	Primary B cells from peripheral blood	blood
40	chr14:69287200-69289400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:69287200-69289400	Enhancers	HepG2	liver
42	chr14:69287200-69289600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:69287200-69289800	Weak transcription	Fetal Intestine Small	intestine
44	chr14:69287200-69291200	Weak transcription	Colon Smooth Muscle	Colon
45	chr14:69287200-69291200	Weak transcription	Fetal Intestine Large	intestine
46	chr14:69287200-69291200	Weak transcription	Hela-S3	cervix
47	chr14:69287200-69291400	Weak transcription	Fetal Stomach	stomach
48	chr14:69287200-69291400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr14:69287200-69291400	Weak transcription	Stomach Mucosa	stomach
50	chr14:69287200-69302800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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