Variant report

Variant	rs2968808
Chromosome Location	chr2:55321474-55321475
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	chr2:55319141..55322072-chr2:55348443..55351423,2	K562	blood:
2	chr2:55315251..55317504-chr2:55320953..55322890,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11894868	1.00[YRI][hapmap]
rs2920867	0.86[ASW][hapmap];0.86[CHD][hapmap];0.90[TSI][hapmap]
rs2920875	0.82[CEU][hapmap]
rs2920876	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2968794	1.00[ASW][hapmap]
rs2968798	0.87[ASW][hapmap];1.00[LWK][hapmap]
rs2968800	0.86[ASW][hapmap];0.86[CHD][hapmap];0.90[TSI][hapmap]
rs2968801	0.92[TSI][hapmap]
rs2968802	0.86[ASW][hapmap];0.86[CHD][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap]
rs2968809	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2968817	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2968819	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2972072	0.87[ASW][hapmap]
rs2972089	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2968808	RTN4	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55315400-55323600	Weak transcription	HSMMtube	muscle
2	chr2:55316000-55322800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:55316000-55323800	Weak transcription	NHDF-Ad	bronchial
4	chr2:55316800-55327200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr2:55317200-55323800	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:55317400-55322000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:55318400-55323600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:55318400-55323600	Weak transcription	Hela-S3	cervix
9	chr2:55318400-55329600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:55318600-55322800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:55319400-55321600	Enhancers	K562	blood
12	chr2:55319400-55321800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:55319400-55321800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:55319400-55322200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:55319600-55321600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:55319600-55322000	Enhancers	NHEK	skin
17	chr2:55319600-55322200	Enhancers	HUVEC	blood vessel
18	chr2:55319600-55322400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:55319800-55321600	Enhancers	A549	lung
20	chr2:55319800-55324600	Weak transcription	Fetal Intestine Small	intestine
21	chr2:55320000-55321600	Enhancers	Osteobl	bone
22	chr2:55320000-55327200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:55320200-55321600	Enhancers	Brain Anterior Caudate	brain
24	chr2:55320200-55322000	Enhancers	Brain Angular Gyrus	brain
25	chr2:55320200-55322000	Enhancers	Brain Cingulate Gyrus	brain
26	chr2:55320200-55323800	Weak transcription	Stomach Mucosa	stomach
27	chr2:55320400-55323800	Weak transcription	Psoas Muscle	Psoas
28	chr2:55320600-55321600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:55320600-55321800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:55320600-55322000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:55320600-55322000	Enhancers	Brain Hippocampus Middle	brain
32	chr2:55320600-55322000	Enhancers	Brain Substantia Nigra	brain
33	chr2:55320800-55321600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:55320800-55321800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:55320800-55322000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr2:55321000-55323600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:55321000-55323600	Weak transcription	Fetal Heart	heart
38	chr2:55321000-55323800	Weak transcription	NH-A	brain
39	chr2:55321000-55324000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:55321000-55324600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:55321000-55326600	Weak transcription	HMEC	breast
42	chr2:55321200-55321600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:55321200-55321600	Weak transcription	NHLF	lung
44	chr2:55321200-55322400	Enhancers	Lung	lung
45	chr2:55321400-55322000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:55321400-55322000	Enhancers	Primary hematopoietic stem cells	blood
47	chr2:55321400-55326400	Weak transcription	Primary B cells from cord blood	blood

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