Variant report

Variant	rs8085958
Chromosome Location	chr18:9757553-9757554
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9742631..9745284-chr18:9756089..9758179,2	MCF-7	breast:
2	chr18:9741767..9745758-chr18:9756519..9760010,5	MCF-7	breast:
3	chr18:9716294..9718965-chr18:9756852..9758579,2	K562	blood:
4	chr18:9756107..9758502-chr18:9867013..9869362,2	MCF-7	breast:
5	chr18:9570194..9572131-chr18:9757327..9760241,2	K562	blood:
6	chr18:9736800..9737476-chr18:9757480..9758357,2	MCF-7	breast:
7	chr18:9755917..9758371-chr18:9847195..9849812,2	MCF-7	breast:
8	chr18:9705355..9705876-chr18:9757310..9758013,2	MCF-7	breast:
9	chr18:9751432..9753305-chr18:9757309..9758944,2	MCF-7	breast:
10	chr18:9754564..9758028-chr18:9758607..9762547,4	K562	blood:
11	chr18:9756292..9758838-chr18:9926698..9928594,2	K562	blood:
12	chr18:9754934..9759602-chr18:9760680..9767118,9	K562	blood:
13	chr18:9757339..9758292-chr18:9785141..9785899,2	MCF-7	breast:
14	chr18:9756873..9759429-chr20:47179184..47181913,2	MCF-7	breast:
15	chr18:9757328..9758357-chr18:9804207..9804764,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000154845	Chromatin interaction
ENSG00000168461	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16955541	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4798846	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4798848	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4798849	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6506696	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8086019	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8086030	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8086174	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8091737	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8092949	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8093100	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8093221	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9946546	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9951171	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9958317	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9966247	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1064807	chr18:9695356-9770358	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv1821203	chr18:9747676-9757934	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1796843	chr18:9749799-9757934	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1796789	chr18:9749957-9757734	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9744000-9757600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:9748200-9759600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr18:9750200-9771400	Weak transcription	Brain Angular Gyrus	brain
4	chr18:9750800-9758200	Weak transcription	NHLF	lung
5	chr18:9750800-9764000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr18:9751000-9757600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr18:9751000-9757800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:9751000-9760600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr18:9751000-9762200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr18:9751800-9758200	Weak transcription	Brain Anterior Caudate	brain
11	chr18:9752000-9757600	Weak transcription	Pancreas	Pancrea
12	chr18:9752200-9766000	Weak transcription	Ovary	ovary
13	chr18:9753400-9757600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr18:9754200-9757800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr18:9754200-9758000	Weak transcription	HMEC	breast
16	chr18:9754200-9758200	Weak transcription	NHEK	skin
17	chr18:9754200-9761200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr18:9754200-9763800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr18:9754600-9758000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr18:9754800-9759400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr18:9755000-9758400	Weak transcription	Small Intestine	intestine
22	chr18:9755000-9758600	Weak transcription	A549	lung
23	chr18:9755200-9757600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr18:9755200-9759000	Enhancers	NH-A	brain
25	chr18:9755200-9759400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr18:9755400-9757800	Enhancers	Colon Smooth Muscle	Colon
27	chr18:9755400-9758800	Enhancers	Primary hematopoietic stem cells	blood
28	chr18:9755400-9758800	Enhancers	Fetal Stomach	stomach
29	chr18:9755400-9759000	Enhancers	HSMM	muscle
30	chr18:9755600-9758000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr18:9755600-9759400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr18:9755600-9760600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr18:9755800-9758200	Weak transcription	Fetal Muscle Leg	muscle
34	chr18:9755800-9770600	Weak transcription	Aorta	Aorta
35	chr18:9756000-9758000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr18:9756000-9758200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr18:9756000-9760400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr18:9756000-9760600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr18:9756000-9764000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr18:9756200-9757800	Enhancers	Rectal Smooth Muscle	rectum
41	chr18:9756200-9771200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr18:9756400-9757600	Weak transcription	NHDF-Ad	bronchial
43	chr18:9756400-9757600	Weak transcription	Osteobl	bone
44	chr18:9756400-9758000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr18:9756400-9758000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr18:9756600-9757600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr18:9756600-9758000	Enhancers	Stomach Smooth Muscle	stomach
48	chr18:9756600-9758200	Weak transcription	HUVEC	blood vessel
49	chr18:9756800-9757600	Enhancers	Spleen	Spleen
50	chr18:9756800-9759000	Enhancers	Brain Hippocampus Middle	brain

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