Variant report

Variant	rs10747319
Chromosome Location	chr1:85869503-85869504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10489511	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs10747320	1.00[AFR][1000 genomes]
rs11161608	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2124138	1.00[AFR][1000 genomes]
rs233048	1.00[YRI][hapmap]
rs233052	1.00[AFR][1000 genomes]
rs233073	1.00[YRI][hapmap]
rs34102729	1.00[AFR][1000 genomes]
rs641864	1.00[YRI][hapmap]
rs684569	1.00[YRI][hapmap]
rs7526667	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7532994	1.00[AFR][1000 genomes]
rs7552422	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3393958	chr1:85857980-85874598	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10747319	GLUL	trans	lymphoblastoid	seeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85845000-85870000	Weak transcription	HSMMtube	muscle
2	chr1:85855200-85870000	Weak transcription	Fetal Stomach	stomach
3	chr1:85856000-85872800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:85862200-85874600	Weak transcription	Pancreas	Pancrea
5	chr1:85864000-85872600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:85864400-85869800	Weak transcription	Aorta	Aorta
7	chr1:85864400-85870600	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:85864400-85871000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:85864400-85871800	Weak transcription	NH-A	brain
10	chr1:85864400-85872200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:85864400-85873000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:85864400-85874600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:85864600-85870000	Weak transcription	Brain Anterior Caudate	brain
14	chr1:85864800-85876800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:85865200-85870000	Weak transcription	Psoas Muscle	Psoas
16	chr1:85865200-85871200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:85865400-85870800	Weak transcription	NHDF-Ad	bronchial
18	chr1:85865400-85871200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:85865400-85871400	Weak transcription	Fetal Lung	lung
20	chr1:85865400-85871400	Weak transcription	HSMM	muscle
21	chr1:85865400-85872800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:85865600-85869800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:85865600-85870800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:85865600-85871600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:85865800-85869800	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:85865800-85870200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:85866200-85870800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:85866200-85871000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:85866200-85871000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:85866200-85871600	Weak transcription	Adipose Nuclei	Adipose
31	chr1:85866600-85870000	Weak transcription	Ovary	ovary
32	chr1:85866800-85870000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:85868600-85870800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:85868600-85872800	Enhancers	Liver	Liver
35	chr1:85869000-85870400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:85869000-85871200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:85869000-85872800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:85869200-85870800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:85869200-85871000	Enhancers	HUVEC	blood vessel
40	chr1:85869200-85873200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:85869400-85870000	Enhancers	Osteobl	bone
42	chr1:85869400-85872200	Weak transcription	Fetal Kidney	kidney

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