Variant report

Variant	rs2268968
Chromosome Location	chr14:69429313-69429314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69407443..69410998-chr14:69427616..69430586,3	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1007407	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs10083451	0.85[JPT][hapmap]
rs10137547	0.86[ASN][1000 genomes]
rs10139873	0.85[JPT][hapmap]
rs10145565	0.85[JPT][hapmap]
rs10147976	0.86[ASN][1000 genomes]
rs11158782	0.85[JPT][hapmap]
rs11158790	0.85[JPT][hapmap]
rs1147481	0.85[JPT][hapmap]
rs12432970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12434478	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.97[ASN][1000 genomes]
rs12589028	0.85[JPT][hapmap]
rs1275407	0.85[JPT][hapmap]
rs17093668	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106670	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2001998	0.85[JPT][hapmap]
rs2012750	0.86[ASN][1000 genomes]
rs2012764	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2012785	0.86[ASN][1000 genomes]
rs2024892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2024893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300875	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs28561965	0.86[ASN][1000 genomes]
rs28613298	0.85[JPT][hapmap]
rs4243632	0.83[ASN][1000 genomes]
rs4902682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573869	0.85[JPT][hapmap]
rs7140693	0.88[CHD][hapmap]
rs7146225	0.85[JPT][hapmap]
rs7149487	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7160629	0.85[JPT][hapmap]
rs72733548	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015876	1.00[JPT][hapmap]
rs9323524	0.85[JPT][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2268968	PLEKHG3	cis	cerebellum	SCAN
rs2268968	SMOC1	cis	cerebellum	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69409800-69434400	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr14:69411200-69442600	Weak transcription	Fetal Brain Female	brain
3	chr14:69420200-69430800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:69420200-69437200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:69420200-69441200	Genic enhancers	NHEK	skin
6	chr14:69420600-69441600	Genic enhancers	NH-A	brain
7	chr14:69421000-69432200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr14:69421200-69442200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:69422400-69433600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:69422800-69430800	Weak transcription	Fetal Kidney	kidney
11	chr14:69423000-69435000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:69423600-69432400	Weak transcription	K562	blood
13	chr14:69424000-69433200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr14:69424400-69429400	Enhancers	NHDF-Ad	bronchial
15	chr14:69424400-69430800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:69424400-69433000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr14:69424400-69433200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr14:69424600-69430000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr14:69424600-69430800	Weak transcription	Dnd41	blood
20	chr14:69424600-69433200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:69424800-69430200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr14:69425000-69431400	Weak transcription	Hela-S3	cervix
23	chr14:69425000-69432200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:69425200-69431400	Enhancers	Rectal Smooth Muscle	rectum
25	chr14:69425800-69431000	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:69426000-69429800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr14:69426000-69430000	Weak transcription	Fetal Intestine Large	intestine
28	chr14:69426000-69430000	Enhancers	HUVEC	blood vessel
29	chr14:69426000-69430800	Weak transcription	Small Intestine	intestine
30	chr14:69426000-69432200	Weak transcription	Brain Substantia Nigra	brain
31	chr14:69426000-69433600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:69426000-69436600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:69426200-69430000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:69426200-69430800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:69426200-69430800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr14:69426200-69436400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:69426200-69436600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:69426200-69436800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr14:69426600-69429400	Enhancers	HSMMtube	muscle
40	chr14:69426600-69431800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:69426600-69434600	Enhancers	Primary T cells fromperipheralblood	blood
42	chr14:69426800-69430200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr14:69427000-69430000	Weak transcription	Liver	Liver
44	chr14:69427200-69430000	Enhancers	HSMM	muscle
45	chr14:69427600-69429400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:69427600-69429400	Enhancers	Fetal Heart	heart
47	chr14:69427600-69429400	Enhancers	Fetal Lung	lung
48	chr14:69427600-69429400	Enhancers	Right Ventricle	heart
49	chr14:69427600-69429600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr14:69427600-69429800	Enhancers	Fetal Muscle Trunk	muscle

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