Variant report

Variant	rs2268969
Chromosome Location	chr14:69428482-69428483
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:
2	chr14:69423649..69425518-chr14:69426696..69428548,3	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1884633	0.83[JPT][hapmap]
rs1884634	1.00[CHB][hapmap];0.83[CHD][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs7159001	0.83[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
rs2268969	ARHGEF38	trans	cerebellum	SCAN
rs2268969	ZFYVE26	cis	cerebellum	SCAN

Chromatin state (count:113 , 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	chr14:69414800-69428800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:69417400-69429200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:69420200-69428600	Weak transcription	Esophagus	oesophagus
6	chr14:69420200-69430800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:69420200-69437200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:69420200-69441200	Genic enhancers	NHEK	skin
9	chr14:69420600-69441600	Genic enhancers	NH-A	brain
10	chr14:69421000-69432200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr14:69421200-69442200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:69422400-69429000	Weak transcription	Thymus	Thymus
13	chr14:69422400-69433600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:69422800-69428600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:69422800-69430800	Weak transcription	Fetal Kidney	kidney
16	chr14:69423000-69435000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:69423600-69432400	Weak transcription	K562	blood
18	chr14:69423800-69429200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr14:69424000-69428800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:69424000-69433200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr14:69424400-69429400	Enhancers	NHDF-Ad	bronchial
22	chr14:69424400-69430800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:69424400-69433000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr14:69424400-69433200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr14:69424600-69429000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:69424600-69430000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:69424600-69430800	Weak transcription	Dnd41	blood
28	chr14:69424600-69433200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr14:69424800-69428600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr14:69424800-69428800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:69424800-69430200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:69425000-69431400	Weak transcription	Hela-S3	cervix
33	chr14:69425000-69432200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:69425200-69431400	Enhancers	Rectal Smooth Muscle	rectum
35	chr14:69425800-69428600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:69425800-69428600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:69425800-69431000	Weak transcription	Brain Hippocampus Middle	brain
38	chr14:69426000-69428600	Weak transcription	Placenta	Placenta
39	chr14:69426000-69428800	Genic enhancers	HMEC	breast
40	chr14:69426000-69429200	Weak transcription	Fetal Thymus	thymus
41	chr14:69426000-69429800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr14:69426000-69430000	Weak transcription	Fetal Intestine Large	intestine
43	chr14:69426000-69430000	Enhancers	HUVEC	blood vessel
44	chr14:69426000-69430800	Weak transcription	Small Intestine	intestine
45	chr14:69426000-69432200	Weak transcription	Brain Substantia Nigra	brain
46	chr14:69426000-69433600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:69426000-69436600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:69426200-69428600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:69426200-69428800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr14:69426200-69430000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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