Variant report

Variant	rs9590329
Chromosome Location	chr13:96454126-96454127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:96447571..96450064-chr13:96451642..96454530,2	K562	blood:
2	chr13:96349364..96351436-chr13:96453335..96455358,2	MCF-7	breast:
3	chr13:96452236..96454277-chr13:96468107..96470633,2	K562	blood:
4	chr13:96451195..96454586-chr13:96458825..96461447,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10467347	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs17235320	0.82[YRI][hapmap]
rs17878797	0.84[ASN][1000 genomes]
rs17879366	0.83[EUR][1000 genomes]
rs17880519	1.00[JPT][hapmap]
rs28503176	0.97[ASN][1000 genomes]
rs28631067	0.92[ASN][1000 genomes]
rs4406928	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4550324	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs58509921	0.85[ASN][1000 genomes]
rs61422359	0.84[ASN][1000 genomes]
rs61975190	0.80[ASN][1000 genomes]
rs61975193	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6492817	0.85[CHB][hapmap]
rs7318647	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7324577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs7327257	0.92[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs73554913	0.84[ASN][1000 genomes]
rs7983920	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7988464	0.92[ASN][1000 genomes]
rs7990333	0.86[ASN][1000 genomes]
rs7990743	0.84[ASN][1000 genomes]
rs7993991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7994177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9584318	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9584321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9584331	1.00[YRI][hapmap]
rs9584332	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs9590318	0.85[CHB][hapmap]
rs9590319	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9590320	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs9590322	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9590323	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9590335	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9590337	0.89[ASN][1000 genomes]
rs9590338	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9590340	0.87[ASN][1000 genomes]
rs9590341	0.83[ASN][1000 genomes]
rs9590352	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9590353	0.92[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96405600-96455800	Weak transcription	Fetal Heart	heart
2	chr13:96430000-96457400	Weak transcription	Brain Germinal Matrix	brain
3	chr13:96439800-96454200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr13:96443800-96465600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:96443800-96466000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr13:96444400-96461600	Weak transcription	Esophagus	oesophagus
7	chr13:96444400-96461800	Weak transcription	Ovary	ovary
8	chr13:96444400-96477600	Weak transcription	Brain Angular Gyrus	brain
9	chr13:96444400-96477600	Weak transcription	NHLF	lung
10	chr13:96444400-96485600	Weak transcription	NHDF-Ad	bronchial
11	chr13:96445000-96455800	Weak transcription	HMEC	breast
12	chr13:96445000-96458400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr13:96445600-96454800	Weak transcription	Lung	lung
14	chr13:96445600-96461600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr13:96445600-96461800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:96445600-96461800	Weak transcription	Pancreas	Pancrea
17	chr13:96445600-96477400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:96445800-96455400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:96445800-96461600	Weak transcription	Aorta	Aorta
20	chr13:96445800-96490000	Weak transcription	HepG2	liver
21	chr13:96446000-96455600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:96446000-96457400	Weak transcription	Fetal Intestine Small	intestine
23	chr13:96446200-96456600	Weak transcription	Fetal Muscle Leg	muscle
24	chr13:96446200-96461600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:96446200-96461800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:96446200-96477400	Weak transcription	Gastric	stomach
27	chr13:96446400-96464800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr13:96446400-96466000	Weak transcription	NHEK	skin
29	chr13:96446800-96454400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr13:96446800-96455600	Weak transcription	HUVEC	blood vessel
31	chr13:96446800-96457200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:96446800-96477400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr13:96446800-96477400	Weak transcription	HSMMtube	muscle
34	chr13:96447000-96461600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr13:96447200-96477400	Weak transcription	Osteobl	bone
36	chr13:96447600-96454400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:96448600-96455600	Weak transcription	Left Ventricle	heart
38	chr13:96448800-96457000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:96448800-96458400	Weak transcription	Liver	Liver
40	chr13:96449000-96462400	Weak transcription	Hela-S3	cervix
41	chr13:96449000-96464800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr13:96449800-96458400	Weak transcription	NH-A	brain
43	chr13:96450200-96454800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr13:96450200-96461600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr13:96450600-96455800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr13:96451800-96458400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr13:96452000-96458400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr13:96452000-96490600	Weak transcription	Fetal Kidney	kidney
49	chr13:96452400-96456600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr13:96452800-96457400	Weak transcription	HSMM	muscle

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