Variant report

Variant	rs659495
Chromosome Location	chr7:129194092-129194093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:129188028..129191960-chr7:129192887..129197274,4	K562	blood:
2	chr7:129193932..129195991-chr7:129245048..129247026,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10257409	0.97[ASN][1000 genomes]
rs1125056	0.99[ASN][1000 genomes]
rs11765308	0.93[ASN][1000 genomes]
rs11765389	0.93[ASN][1000 genomes]
rs11768713	0.93[ASN][1000 genomes]
rs12154955	1.00[CHB][hapmap]
rs12706898	1.00[CHB][hapmap]
rs13233863	1.00[CHB][hapmap]
rs13235012	0.83[ASN][1000 genomes]
rs13239330	0.87[ASN][1000 genomes]
rs1665111	0.81[ASN][1000 genomes]
rs2121265	0.86[ASN][1000 genomes]
rs2598178	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2896417	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34780485	0.83[ASN][1000 genomes]
rs4554407	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56052358	0.92[ASN][1000 genomes]
rs56178414	0.95[ASN][1000 genomes]
rs612972	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs875832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3478069	chr7:129157163-129204221	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3478070	chr7:129157177-129204220	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs659495	IRF5	cis	cerebellum	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129186400-129201600	Weak transcription	Right Atrium	heart
2	chr7:129190800-129195000	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:129192800-129201600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:129193000-129198200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:129193000-129200400	Weak transcription	Gastric	stomach
6	chr7:129193400-129194800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:129193600-129194200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr7:129193600-129194800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr7:129193800-129194200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:129193800-129194200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr7:129193800-129194200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr7:129193800-129194200	Enhancers	Brain Hippocampus Middle	brain
13	chr7:129193800-129194200	Enhancers	HSMMtube	muscle
14	chr7:129193800-129194200	Enhancers	HUVEC	blood vessel
15	chr7:129193800-129194200	Active TSS	K562	blood
16	chr7:129193800-129194400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:129193800-129194400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr7:129193800-129194400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:129193800-129194400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:129193800-129194400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:129193800-129194400	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr7:129193800-129194400	Flanking Active TSS	Dnd41	blood
23	chr7:129193800-129194400	Enhancers	HMEC	breast
24	chr7:129193800-129194400	Enhancers	HSMM	muscle
25	chr7:129194000-129194200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:129194000-129194200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr7:129194000-129194200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:129194000-129194200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:129194000-129194200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:129194000-129194200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:129194000-129194200	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr7:129194000-129194200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:129194000-129194200	Enhancers	Brain Substantia Nigra	brain
34	chr7:129194000-129194200	Enhancers	Duodenum Mucosa	Duodenum
35	chr7:129194000-129194200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
36	chr7:129194000-129194200	Flanking Bivalent TSS/Enh	NH-A	brain
37	chr7:129194000-129194200	Flanking Active TSS	NHDF-Ad	bronchial
38	chr7:129194000-129194200	Active TSS	Osteobl	bone
39	chr7:129194000-129194400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:129194000-129194400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:129194000-129194400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:129194000-129194400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr7:129194000-129194400	Enhancers	Primary hematopoietic stem cells	blood
44	chr7:129194000-129194400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr7:129194000-129194400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr7:129194000-129194400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:129194000-129194400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:129194000-129194400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:129194000-129194400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:129194000-129194400	Flanking Active TSS	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links