Variant report

Variant	rs7214079
Chromosome Location	chr17:67096691-67096692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:67091911..67095488-chr17:67096351..67099862,4	K562	blood:
2	chr17:67096035..67097886-chr17:67098176..67100772,2	K562	blood:
3	chr17:67087494..67092191-chr17:67094325..67097858,5	K562	blood:

Variant related genes	Relation type
ENSG00000267361	Chromatin interaction
ENSG00000154262	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11652530	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12162136	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12453914	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12601388	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12939282	0.81[CEU][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12940298	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12952117	0.90[CEU][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16973567	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1990335	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2041170	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2041171	0.81[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2190900	0.81[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3744489	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4141177	0.90[CEU][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4334355	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4603621	0.85[CEU][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4968838	0.85[CEU][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4968839	0.85[CEU][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5025273	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs6501183	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7207609	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7208586	0.85[CEU][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7213831	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7503217	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8064595	0.95[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8077252	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8078314	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8079981	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9303012	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs976698	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9916693	0.90[CEU][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs997781	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv908705	chr17:67061898-67112456	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	esv1850212	chr17:67081732-67117428	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv470598	chr17:67081830-67212595	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67067200-67099600	Weak transcription	Gastric	stomach
2	chr17:67067200-67111600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:67076800-67109800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:67077800-67137800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr17:67079400-67112200	Strong transcription	Liver	Liver
6	chr17:67079400-67112600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:67079400-67117600	Weak transcription	Esophagus	oesophagus
8	chr17:67079600-67101200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr17:67079600-67114200	Weak transcription	NHDF-Ad	bronchial
10	chr17:67080800-67112000	Weak transcription	Brain Substantia Nigra	brain
11	chr17:67081200-67102000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr17:67081400-67118600	Weak transcription	Right Ventricle	heart
13	chr17:67082200-67114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr17:67085800-67099600	Weak transcription	Lung	lung
15	chr17:67087000-67114600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:67087000-67130400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr17:67089600-67097200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr17:67089800-67102200	Weak transcription	GM12878-XiMat	blood
19	chr17:67090400-67110000	Strong transcription	Adipose Nuclei	Adipose
20	chr17:67091200-67131400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr17:67091600-67104400	Weak transcription	Left Ventricle	heart
22	chr17:67091600-67130000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr17:67092200-67137600	Weak transcription	Brain Anterior Caudate	brain
24	chr17:67095000-67097400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:67095200-67098600	Strong transcription	Fetal Lung	lung
26	chr17:67095600-67096800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr17:67095800-67097200	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr17:67095800-67131000	Weak transcription	Fetal Muscle Leg	muscle
29	chr17:67096200-67143400	Weak transcription	Psoas Muscle	Psoas
30	chr17:67096400-67099400	Weak transcription	Fetal Brain Male	brain
31	chr17:67096400-67099800	Weak transcription	Ovary	ovary
32	chr17:67096400-67104400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr17:67096400-67134000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr17:67096600-67097000	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links