Variant report

Variant	rs2135232
Chromosome Location	chr4:76832856-76832857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10518142	0.90[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11490704	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1876096	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs2047987	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs2047988	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs2280101	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs28759823	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3733234	0.84[CEU][hapmap]
rs55967764	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58317633	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6823734	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs72651374	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7664613	0.82[YRI][hapmap]
rs7686066	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs905958	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2135232	CXCL10	Cis_1M	lymphoblastoid	RTeQTL
rs2135232	ASAHL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76823000-76836600	Weak transcription	Spleen	Spleen
2	chr4:76823600-76835000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr4:76823800-76835000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:76824000-76835200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:76824800-76841000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:76827600-76841000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:76827800-76836600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:76829400-76835000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr4:76829400-76836600	Weak transcription	Placenta	Placenta
10	chr4:76829400-76836600	Weak transcription	Ovary	ovary
11	chr4:76830000-76833000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr4:76830000-76834200	Weak transcription	HSMMtube	muscle
13	chr4:76830000-76837000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:76830200-76835000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr4:76830200-76839600	Weak transcription	Primary B cells from cord blood	blood
16	chr4:76830400-76833800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr4:76830400-76838200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:76830400-76838600	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:76830600-76838200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:76830800-76836000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:76830800-76836800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:76831000-76833600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr4:76831000-76840800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:76831600-76841800	Weak transcription	NHDF-Ad	bronchial
25	chr4:76832000-76834600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:76832200-76834000	Weak transcription	Primary T cells from cord blood	blood
27	chr4:76832200-76835800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:76832400-76835000	Weak transcription	Liver	Liver
29	chr4:76832400-76841000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr4:76832600-76859000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr4:76832800-76834200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:76832800-76834400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr4:76832800-76835000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:76832800-76838400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:76832800-76838400	Weak transcription	Adipose Nuclei	Adipose
36	chr4:76832800-76838400	Weak transcription	Fetal Intestine Large	intestine

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