Variant report

Variant	rs1277348
Chromosome Location	chr6:24358915-24358916
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1087266	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1277337	0.81[EUR][1000 genomes]
rs2753916	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2792666	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs793664	0.83[EUR][1000 genomes]
rs793697	0.83[EUR][1000 genomes]
rs793711	0.81[EUR][1000 genomes]
rs793719	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs813227	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026638	chr6:24347972-24475300	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3426241	chr6:24358398-24360946	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3336385	chr6:24358423-24360671	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1277348	MRS2L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24357400-24359800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:24358200-24360000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:24358400-24359000	Enhancers	Esophagus	oesophagus
4	chr6:24358400-24359800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:24358400-24359800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:24358400-24359800	Weak transcription	Right Atrium	heart
7	chr6:24358400-24360000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:24358400-24360000	Weak transcription	Aorta	Aorta
9	chr6:24358400-24360000	Weak transcription	Left Ventricle	heart
10	chr6:24358600-24359800	Weak transcription	Brain Angular Gyrus	brain
11	chr6:24358600-24359800	Weak transcription	Brain Anterior Caudate	brain
12	chr6:24358600-24359800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:24358600-24359800	Weak transcription	Psoas Muscle	Psoas
14	chr6:24358600-24359800	Weak transcription	GM12878-XiMat	blood
15	chr6:24358600-24359800	Weak transcription	HMEC	breast
16	chr6:24358600-24360000	Weak transcription	Adipose Nuclei	Adipose
17	chr6:24358600-24360000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:24358600-24360000	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:24358600-24360200	Weak transcription	Lung	lung
20	chr6:24358800-24359000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr6:24358800-24359000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:24358800-24359000	Active TSS	Fetal Intestine Large	intestine
23	chr6:24358800-24359000	Enhancers	HepG2	liver
24	chr6:24358800-24359400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr6:24358800-24359800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr6:24358800-24359800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr6:24358800-24359800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr6:24358800-24359800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:24358800-24359800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr6:24358800-24359800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr6:24358800-24359800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr6:24358800-24359800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:24358800-24359800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:24358800-24359800	Weak transcription	Liver	Liver
35	chr6:24358800-24359800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr6:24358800-24359800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:24358800-24359800	Weak transcription	Fetal Intestine Small	intestine
38	chr6:24358800-24359800	Weak transcription	Fetal Kidney	kidney
39	chr6:24358800-24359800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr6:24358800-24359800	Weak transcription	Gastric	stomach
41	chr6:24358800-24359800	Weak transcription	Ovary	ovary
42	chr6:24358800-24359800	Weak transcription	Pancreas	Pancrea
43	chr6:24358800-24359800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr6:24358800-24359800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr6:24358800-24359800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr6:24358800-24359800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr6:24358800-24359800	Weak transcription	Spleen	Spleen
48	chr6:24358800-24359800	Weak transcription	A549	lung
49	chr6:24358800-24360000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:24358800-24360000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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