Variant report

Variant	rs9380525
Chromosome Location	chr6:35633038-35633039
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr6:35632734-35633102	K562	blood:	n/a	chr6:35632895-35632910

No.	Distal block	Cell Line	Cell type
1	chr6:35632806..35634885-chr6:35639087..35641503,2	K562	blood:
2	chr6:35632044..35634360-chr6:35695498..35697741,2	K562	blood:
3	chr6:35630752..35636758-chr6:35653263..35658179,9	K562	blood:

Variant related genes	Relation type
MIR5690	TF binding region
ENSG00000096060	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10947563	0.82[CEU][hapmap];0.88[EUR][1000 genomes]
rs12153967	0.80[EUR][1000 genomes]
rs1360780	0.85[CEU][hapmap];0.82[CHB][hapmap];0.86[EUR][1000 genomes]
rs1591365	0.86[EUR][1000 genomes]
rs2395634	0.85[CEU][hapmap];0.82[CHB][hapmap];0.85[EUR][1000 genomes]
rs2395635	0.81[CEU][hapmap];0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs3798347	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3800372	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3800373	0.80[CEU][hapmap];0.82[CHB][hapmap]
rs4713903	0.92[EUR][1000 genomes]
rs4713904	0.95[CEU][hapmap];0.94[CHB][hapmap];0.91[EUR][1000 genomes]
rs4713906	0.89[EUR][1000 genomes]
rs4713911	0.86[EUR][1000 genomes]
rs4713916	0.81[EUR][1000 genomes]
rs6457839	0.90[EUR][1000 genomes]
rs6899478	0.88[EUR][1000 genomes]
rs6902124	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6902321	0.86[CEU][hapmap];0.88[CHB][hapmap];0.80[JPT][hapmap];0.87[EUR][1000 genomes]
rs6912833	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs6929523	0.88[EUR][1000 genomes]
rs6931118	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7751598	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7759392	0.87[EUR][1000 genomes]
rs7763535	0.87[EUR][1000 genomes]
rs9296158	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9296159	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9357201	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9357202	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9368878	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9368881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368885	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9380526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9394309	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs9394311	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9394314	0.80[CEU][hapmap];0.81[CHB][hapmap]
rs943297	0.80[CEU][hapmap];0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs9462103	0.82[EUR][1000 genomes]
rs9462104	0.85[CEU][hapmap]
rs9470080	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv602924	chr6:35505311-35750299	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv885801	chr6:35537406-35671651	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv5258	chr6:35601724-35658344	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv821646	chr6:35604428-35802594	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	esv1801712	chr6:35614026-35646435	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
9	nsv508403	chr6:35619045-35643768	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
10	esv1809645	chr6:35619554-35646435	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
11	nsv885802	chr6:35621781-35787417	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
12	nsv885803	chr6:35621781-35805133	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv885804	chr6:35621781-35809776	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	esv1796766	chr6:35626500-35646435	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
15	esv1797015	chr6:35626500-35646435	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
16	esv1811106	chr6:35626500-35646435	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
17	esv1848709	chr6:35626500-35655890	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	8 gene(s)	inside rSNPs	diseases
18	esv1851034	chr6:35626500-35656400	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
19	esv1840748	chr6:35629669-35656400	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9380525	FKBP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35615400-35635200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr6:35629600-35633800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:35630000-35633600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:35630200-35633600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:35630400-35633600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:35630400-35633800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr6:35630600-35633200	Enhancers	Thymus	Thymus
8	chr6:35630600-35634000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr6:35630600-35635600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr6:35630800-35633200	Enhancers	HSMM	muscle
11	chr6:35630800-35633400	Enhancers	GM12878-XiMat	blood
12	chr6:35630800-35633600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:35630800-35633800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:35630800-35633800	Enhancers	K562	blood
15	chr6:35630800-35633800	Enhancers	NHDF-Ad	bronchial
16	chr6:35630800-35634000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:35630800-35634000	Enhancers	Liver	Liver
18	chr6:35630800-35634000	Enhancers	Osteobl	bone
19	chr6:35631000-35633200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:35631200-35633400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr6:35631200-35641000	Weak transcription	Esophagus	oesophagus
22	chr6:35631200-35655000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:35631400-35634000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:35631400-35635800	Enhancers	Primary T cells from cord blood	blood
25	chr6:35631400-35654400	Weak transcription	Aorta	Aorta
26	chr6:35631600-35634400	Weak transcription	Left Ventricle	heart
27	chr6:35631600-35635000	Weak transcription	Colon Smooth Muscle	Colon
28	chr6:35631600-35635600	Weak transcription	Lung	lung
29	chr6:35631600-35636800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr6:35631600-35644600	Weak transcription	Small Intestine	intestine
31	chr6:35631600-35646600	Weak transcription	Gastric	stomach
32	chr6:35631600-35652000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:35631800-35633400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr6:35631800-35633600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr6:35631800-35633600	Weak transcription	Colonic Mucosa	Colon
36	chr6:35631800-35633800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:35631800-35634000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:35631800-35635600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr6:35631800-35635800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:35631800-35636800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr6:35631800-35636800	Weak transcription	Fetal Lung	lung
42	chr6:35632000-35633400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr6:35632000-35635600	Weak transcription	Fetal Thymus	thymus
44	chr6:35632000-35635800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:35632000-35636000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:35632000-35636000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr6:35632000-35638200	Weak transcription	Brain Angular Gyrus	brain
48	chr6:35632000-35641000	Weak transcription	Right Atrium	heart
49	chr6:35632000-35641800	Weak transcription	Brain Substantia Nigra	brain
50	chr6:35632000-35643600	Weak transcription	Brain Hippocampus Middle	brain

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