Variant report

Variant	rs956989
Chromosome Location	chr7:17815360-17815361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10227462	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10228026	0.82[YRI][hapmap]
rs10229298	0.90[YRI][hapmap]
rs10230644	0.82[YRI][hapmap]
rs10231226	0.82[YRI][hapmap]
rs10234457	0.91[YRI][hapmap]
rs10237285	1.00[MKK][hapmap];0.91[YRI][hapmap]
rs10256661	1.00[AMR][1000 genomes]
rs10270181	0.82[YRI][hapmap]
rs10274155	0.82[YRI][hapmap]
rs10278523	0.93[MKK][hapmap];0.91[YRI][hapmap]
rs10280913	0.82[YRI][hapmap]
rs10282571	0.82[YRI][hapmap]
rs11975603	1.00[MKK][hapmap];0.82[YRI][hapmap]
rs17138311	1.00[MKK][hapmap];0.91[YRI][hapmap]
rs17138375	0.82[YRI][hapmap]
rs17138405	0.82[YRI][hapmap]
rs1880456	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869352	chr7:17237983-17932878	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS 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	23 gene(s)	inside rSNPs	diseases
2	nsv1021524	chr7:17251148-17963307	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1021289	chr7:17254117-17873816	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
4	nsv538754	chr7:17254117-17873816	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv534309	chr7:17254118-17932878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv533938	chr7:17254118-18040301	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv887804	chr7:17571140-17885468	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
9	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
10	esv2764016	chr7:17800816-17815402	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs956989	CXCL11	trans	brain	seeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17812200-17815400	Enhancers	NH-A	brain
2	chr7:17812400-17846200	Weak transcription	Fetal Stomach	stomach
3	chr7:17812400-17852200	Weak transcription	Esophagus	oesophagus
4	chr7:17812600-17887600	Weak transcription	Gastric	stomach
5	chr7:17813400-17821200	Weak transcription	Thymus	Thymus
6	chr7:17813600-17879200	Weak transcription	HSMMtube	muscle
7	chr7:17813800-17815400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:17813800-17833200	Weak transcription	Fetal Thymus	thymus
9	chr7:17813800-17836200	Weak transcription	HSMM	muscle
10	chr7:17814200-17833200	Weak transcription	Right Ventricle	heart
11	chr7:17814400-17815600	Enhancers	Fetal Heart	heart
12	chr7:17814400-17821200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:17814600-17828600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:17814600-17833400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:17815000-17816200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:17815000-17833200	Weak transcription	Left Ventricle	heart
17	chr7:17815200-17829200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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