Variant report

Variant	rs7331549
Chromosome Location	chr13:96466501-96466502
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10508027	1.00[JPT][hapmap]
rs11616953	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11618323	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12430152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12583796	0.93[YRI][hapmap]
rs16951334	0.85[CEU][hapmap]
rs17878753	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17879875	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1788062	1.00[JPT][hapmap]
rs17885081	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1854758	1.00[JPT][hapmap]
rs3087341	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3099362	0.87[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3099363	0.88[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3101570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3125439	0.87[AMR][1000 genomes]
rs3848077	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3886352	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3901894	0.93[YRI][hapmap]
rs4254181	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4347496	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4383020	1.00[JPT][hapmap]
rs4409947	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4491364	0.95[ASN][1000 genomes]
rs4526890	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6492821	0.93[YRI][hapmap]
rs6492822	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72636541	0.86[EUR][1000 genomes]
rs7316996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7318892	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7323408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7331211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7332078	1.00[JPT][hapmap]
rs7334320	1.00[JPT][hapmap]
rs7334552	0.93[YRI][hapmap]
rs7339059	1.00[JPT][hapmap]
rs7991405	1.00[CEU][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7999737	1.00[JPT][hapmap]
rs816142	0.86[JPT][hapmap]
rs9302084	0.92[YRI][hapmap]
rs9516621	1.00[JPT][hapmap]
rs9525079	1.00[JPT][hapmap]
rs9561931	0.83[YRI][hapmap]
rs9561939	0.90[YRI][hapmap]
rs9584324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9590310	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9590328	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[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	nsv832690	chr13:96330757-96508077	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv3509289	chr13:96461000-96505090	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3509290	chr13:96461000-96505090	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7331549	DZIP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96444400-96477600	Weak transcription	Brain Angular Gyrus	brain
2	chr13:96444400-96477600	Weak transcription	NHLF	lung
3	chr13:96444400-96485600	Weak transcription	NHDF-Ad	bronchial
4	chr13:96445600-96477400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:96445800-96490000	Weak transcription	HepG2	liver
6	chr13:96446200-96477400	Weak transcription	Gastric	stomach
7	chr13:96446800-96477400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr13:96446800-96477400	Weak transcription	HSMMtube	muscle
9	chr13:96447200-96477400	Weak transcription	Osteobl	bone
10	chr13:96452000-96490600	Weak transcription	Fetal Kidney	kidney
11	chr13:96455000-96467800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:96458800-96477400	Weak transcription	NH-A	brain
13	chr13:96460400-96477200	Weak transcription	A549	lung
14	chr13:96460400-96477400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:96462000-96468000	Weak transcription	Pancreas	Pancrea
16	chr13:96462000-96477400	Weak transcription	HSMM	muscle
17	chr13:96462200-96477200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:96462200-96477400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:96462600-96467800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:96462600-96485600	Weak transcription	Hela-S3	cervix
21	chr13:96462800-96466600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:96464800-96466600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:96464800-96466600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr13:96464800-96466600	ZNF genes & repeats	Aorta	Aorta
25	chr13:96464800-96466800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
26	chr13:96465000-96466600	ZNF genes & repeats	GM12878-XiMat	blood
27	chr13:96465000-96466800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
28	chr13:96465000-96466800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:96465000-96466800	ZNF genes & repeats	Fetal Brain Female	brain
30	chr13:96465000-96466800	ZNF genes & repeats	Ovary	ovary
31	chr13:96465000-96468800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:96465200-96466800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr13:96465400-96466600	ZNF genes & repeats	Fetal Lung	lung
34	chr13:96465400-96466600	Strong transcription	Stomach Smooth Muscle	stomach
35	chr13:96465400-96466800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:96465400-96466800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
37	chr13:96465400-96466800	ZNF genes & repeats	Fetal Muscle Leg	muscle
38	chr13:96465600-96466600	ZNF genes & repeats	Adipose Nuclei	Adipose
39	chr13:96465600-96466800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr13:96465600-96481200	Weak transcription	Psoas Muscle	Psoas
41	chr13:96465800-96466600	ZNF genes & repeats	Left Ventricle	heart
42	chr13:96465800-96466600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
43	chr13:96465800-96466600	ZNF genes & repeats	Spleen	Spleen
44	chr13:96466000-96466600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:96466000-96466600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr13:96466000-96466600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:96466000-96466600	ZNF genes & repeats	Esophagus	oesophagus
48	chr13:96466000-96466800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
49	chr13:96466000-96466800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
50	chr13:96466000-96466800	ZNF genes & repeats	Fetal Intestine Small	intestine

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