Variant report

Variant	rs2298162
Chromosome Location	chr1:95449033-95449034
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	chr1:95442287..95445086-chr1:95447499..95449061,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10874902	0.83[JPT][hapmap]
rs11585462	0.83[JPT][hapmap]
rs2391388	0.82[JPT][hapmap]
rs2797620	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4339907	0.83[JPT][hapmap]
rs4630159	0.83[JPT][hapmap]
rs4847220	0.83[JPT][hapmap]
rs4949965	0.83[JPT][hapmap]
rs4950058	0.83[JPT][hapmap]
rs6675668	0.83[JPT][hapmap]
rs6687388	0.83[JPT][hapmap]
rs6698046	0.83[JPT][hapmap]
rs7537374	0.83[JPT][hapmap]
rs9437689	0.83[JPT][hapmap]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2298162	C1orf146	cis	cerebellum	SCAN
rs2298162	TMED5	cis	parietal	SCAN
rs2298162	Contig41852	cis	multi-tissue	Pritchard
rs2298162	FNBP1L	cis	parietal	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95422000-95450800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:95429000-95467600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:95436600-95451200	Weak transcription	Small Intestine	intestine
4	chr1:95437600-95455600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:95437800-95455000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:95437800-95458400	Weak transcription	Liver	Liver
7	chr1:95440200-95450600	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:95445200-95449200	Enhancers	Fetal Muscle Leg	muscle
9	chr1:95445200-95450000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:95445400-95449400	Enhancers	HUVEC	blood vessel
11	chr1:95446800-95455000	Weak transcription	Left Ventricle	heart
12	chr1:95446800-95457800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:95447000-95452200	Weak transcription	Fetal Intestine Small	intestine
14	chr1:95447000-95490800	Weak transcription	Fetal Intestine Large	intestine
15	chr1:95447600-95450800	Weak transcription	Fetal Stomach	stomach
16	chr1:95447600-95460400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:95448000-95449200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:95448000-95449200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:95448000-95449200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:95448000-95449200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:95448000-95449200	Enhancers	HMEC	breast
22	chr1:95448000-95449200	Enhancers	NHLF	lung
23	chr1:95448000-95449400	Enhancers	NHDF-Ad	bronchial
24	chr1:95448000-95455000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:95448200-95449200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:95448200-95449200	Enhancers	HepG2	liver
27	chr1:95448200-95449400	Enhancers	NHEK	skin
28	chr1:95448200-95451200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:95448200-95491000	Weak transcription	Primary B cells from cord blood	blood
30	chr1:95448400-95449200	Enhancers	Brain Cingulate Gyrus	brain
31	chr1:95448400-95452400	Enhancers	HSMMtube	muscle
32	chr1:95448600-95449200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:95448600-95449200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:95448600-95449200	Strong transcription	Primary T cells from cord blood	blood
35	chr1:95448600-95449200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:95448600-95449200	Enhancers	Right Atrium	heart
37	chr1:95448600-95449200	Flanking Active TSS	HSMM	muscle
38	chr1:95448600-95449200	Flanking Active TSS	Osteobl	bone
39	chr1:95448600-95451200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:95448800-95449200	Flanking Active TSS	Aorta	Aorta
41	chr1:95448800-95449200	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr1:95448800-95449200	Enhancers	Rectal Smooth Muscle	rectum
43	chr1:95448800-95449200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr1:95448800-95451200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:95448800-95452400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:95448800-95455000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:95448800-95460000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:95449000-95449200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:95449000-95449200	Enhancers	Adipose Nuclei	Adipose
50	chr1:95449000-95449200	ZNF genes & repeats	Fetal Heart	heart

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