Variant report

Variant	rs7517765
Chromosome Location	chr1:223981970-223981971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223957310..223959026-chr1:223979977..223981991,2	K562	blood:
2	chr1:223913291..223915988-chr1:223981454..223983055,2	K562	blood:
3	chr1:223974924..223977423-chr1:223981900..223984346,2	MCF-7	breast:
4	chr1:223981509..223983436-chr1:223983532..223986465,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162909	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12136558	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4653676	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6604725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6663152	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7517765	MRPL14	trans	parietal	SCAN
rs7517765	AIDA	cis	parietal	SCAN
rs7517765	ENAH	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223956600-224004600	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr1:223956600-224004600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:223957000-223983400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:223960200-223998600	Strong transcription	Fetal Thymus	thymus
5	chr1:223960200-224025400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:223960600-223986800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:223960600-223995200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:223960600-224001400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:223960800-223995400	Weak transcription	GM12878-XiMat	blood
10	chr1:223961800-224004400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:223962600-223983600	Weak transcription	Psoas Muscle	Psoas
12	chr1:223963400-223983800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:223964000-223985600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:223964400-224008000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:223965400-223983800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:223966600-223983600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:223968400-223984000	Weak transcription	Colonic Mucosa	Colon
18	chr1:223968600-223983000	Weak transcription	Small Intestine	intestine
19	chr1:223969000-223983400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:223969200-223983400	Weak transcription	HepG2	liver
21	chr1:223969800-223995200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:223970000-223995200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:223970600-223982000	Strong transcription	Fetal Muscle Leg	muscle
24	chr1:223970600-223990400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:223971200-223983400	Weak transcription	Esophagus	oesophagus
26	chr1:223971400-223983400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:223971400-223985200	Weak transcription	Gastric	stomach
28	chr1:223971400-223985800	Weak transcription	Aorta	Aorta
29	chr1:223972000-223983400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:223972000-223983600	Weak transcription	Right Ventricle	heart
31	chr1:223972000-223985400	Weak transcription	HMEC	breast
32	chr1:223972200-223982800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:223972200-223983400	Weak transcription	A549	lung
34	chr1:223972200-223983600	Weak transcription	Fetal Kidney	kidney
35	chr1:223972800-223995200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr1:223973200-223996000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:223973800-223983400	Weak transcription	Ovary	ovary
38	chr1:223973800-223983400	Weak transcription	NHLF	lung
39	chr1:223973800-223983600	Weak transcription	Pancreas	Pancrea
40	chr1:223974000-223983000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:223974000-223995000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:223974200-223983200	Weak transcription	Colon Smooth Muscle	Colon
43	chr1:223974200-223983200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr1:223974200-223983400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:223975000-223989800	Strong transcription	Liver	Liver
46	chr1:223975800-223984400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr1:223975800-223995200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:223976400-223985800	Weak transcription	Hela-S3	cervix
49	chr1:223976800-224003000	Weak transcription	Fetal Heart	heart
50	chr1:223977000-223983000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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