Variant report

Variant	rs2268972
Chromosome Location	chr14:69424554-69424555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69417161..69420849-chr14:69420995..69424800,5	MCF-7	breast:
2	chr14:69423649..69425518-chr14:69426696..69428548,3	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2268973	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7140693	0.86[CHB][hapmap]
rs8015876	0.86[CHB][hapmap];0.81[LWK][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2268972	SMOC1	cis	cerebellum	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69402000-69426200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr14:69402200-69425200	Enhancers	Right Atrium	heart
3	chr14:69402400-69427000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:69409800-69434400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr14:69411200-69442600	Weak transcription	Fetal Brain Female	brain
6	chr14:69414800-69428800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:69417400-69429200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:69418400-69424600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:69420200-69428600	Weak transcription	Esophagus	oesophagus
10	chr14:69420200-69430800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:69420200-69437200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:69420200-69441200	Genic enhancers	NHEK	skin
13	chr14:69420600-69441600	Genic enhancers	NH-A	brain
14	chr14:69420800-69427000	Genic enhancers	Muscle Satellite Cultured Cells	--
15	chr14:69421000-69426000	Enhancers	Ovary	ovary
16	chr14:69421000-69432200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr14:69421200-69426400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr14:69421200-69426600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:69421200-69442200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:69421400-69425400	Enhancers	Right Ventricle	heart
21	chr14:69421400-69426000	Enhancers	Left Ventricle	heart
22	chr14:69421600-69424600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr14:69421600-69426000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:69421600-69426200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:69421600-69426400	Enhancers	Adipose Nuclei	Adipose
26	chr14:69421600-69426400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr14:69421600-69426600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr14:69421600-69427000	Enhancers	Liver	Liver
29	chr14:69421800-69424600	Enhancers	Colonic Mucosa	Colon
30	chr14:69421800-69424800	Genic enhancers	Fetal Stomach	stomach
31	chr14:69421800-69426000	Enhancers	Fetal Thymus	thymus
32	chr14:69421800-69426200	Enhancers	Duodenum Mucosa	Duodenum
33	chr14:69421800-69426600	Genic enhancers	HSMMtube	muscle
34	chr14:69421800-69427200	Genic enhancers	HSMM	muscle
35	chr14:69422000-69424600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr14:69422000-69425200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:69422000-69425400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:69422000-69425400	Genic enhancers	HMEC	breast
39	chr14:69422000-69426000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:69422000-69426600	Genic enhancers	Primary T cells from cord blood	blood
41	chr14:69422200-69424600	Strong transcription	Dnd41	blood
42	chr14:69422200-69426200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr14:69422400-69425000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:69422400-69425800	Genic enhancers	A549	lung
45	chr14:69422400-69429000	Weak transcription	Thymus	Thymus
46	chr14:69422400-69433600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:69422600-69425600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
48	chr14:69422600-69428400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr14:69422800-69424600	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr14:69422800-69425000	Strong transcription	Hela-S3	cervix

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