Variant report

Variant	rs1031800
Chromosome Location	chr6:114150024-114150025
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1026635	0.82[ASN][1000 genomes]
rs1026636	0.82[ASN][1000 genomes]
rs1026640	0.82[ASN][1000 genomes]
rs1031797	0.83[ASN][1000 genomes]
rs1031798	0.83[ASN][1000 genomes]
rs13209042	0.91[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs1564063	0.81[ASN][1000 genomes]
rs1585564	0.82[ASN][1000 genomes]
rs17075611	0.82[ASN][1000 genomes]
rs2126461	0.83[ASN][1000 genomes]
rs2126462	0.83[ASN][1000 genomes]
rs2615508	0.80[ASN][1000 genomes]
rs2615529	0.81[ASN][1000 genomes]
rs2615530	0.83[ASN][1000 genomes]
rs2615531	0.83[ASN][1000 genomes]
rs2615532	0.83[ASN][1000 genomes]
rs2615533	0.82[ASN][1000 genomes]
rs2753884	0.82[ASN][1000 genomes]
rs2810179	0.91[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs2810182	0.82[ASN][1000 genomes]
rs2810187	0.82[ASN][1000 genomes]
rs2810188	0.80[ASN][1000 genomes]
rs2810191	0.82[ASN][1000 genomes]
rs2810195	0.91[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs2810196	0.82[ASN][1000 genomes]
rs4945503	0.83[ASN][1000 genomes]
rs7752266	0.83[ASN][1000 genomes]
rs9374429	0.82[ASN][1000 genomes]
rs9387179	0.82[ASN][1000 genomes]
rs9398364	0.81[ASN][1000 genomes]
rs9400676	0.91[CHB][hapmap];0.80[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs959211	0.91[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs963884	0.91[CHB][hapmap];0.87[JPT][hapmap];0.82[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	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1031800	REV3L	cis	cerebellum	SCAN
rs1031800	RWDD1	cis	cerebellum	SCAN
rs1031800	C6orf225	cis	parietal	SCAN
rs1031800	REV3L	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114141400-114150200	Weak transcription	Fetal Intestine Large	intestine
2	chr6:114147200-114150200	Weak transcription	Pancreas	Pancrea
3	chr6:114147400-114150200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:114147400-114150400	Weak transcription	NH-A	brain
5	chr6:114147400-114150600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:114147400-114151000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:114147400-114151000	Weak transcription	Small Intestine	intestine
8	chr6:114147400-114154800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:114147600-114150200	Weak transcription	Brain Anterior Caudate	brain
10	chr6:114147600-114150400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:114147600-114150600	Weak transcription	Osteobl	bone
12	chr6:114147600-114154400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:114147800-114150200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:114147800-114150200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:114147800-114150400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:114147800-114151000	Weak transcription	Adipose Nuclei	Adipose
17	chr6:114148200-114150400	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:114149200-114151400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr6:114149600-114150600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr6:114149600-114152200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr6:114149800-114151800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr6:114149800-114151800	Enhancers	HSMM	muscle
23	chr6:114150000-114150400	Enhancers	HSMMtube	muscle
24	chr6:114150000-114151000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr6:114150000-114151200	Enhancers	Psoas Muscle	Psoas
26	chr6:114150000-114151800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:114150000-114151800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:114150000-114151800	Enhancers	Skeletal Muscle Male	skeletal muscle

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