Variant report

Variant	rs7226695
Chromosome Location	chr18:9713287-9713288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9616973..9619527-chr18:9711336..9714007,2	K562	blood:
2	chr18:9703204..9706158-chr18:9711688..9713754,2	K562	blood:
3	chr18:9711649..9714117-chr18:9915144..9917069,2	K562	blood:

Variant related genes	Relation type
ENSG00000212572	Chromatin interaction
ENSG00000101558	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1563329	0.91[AMR][1000 genomes]
rs7240191	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8090845	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8091483	0.83[AMR][1000 genomes]
rs8092497	0.91[AMR][1000 genomes]
rs8096128	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9947855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9967201	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9709600-9713400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr18:9709800-9714400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:9710000-9719600	Weak transcription	HSMM	muscle
4	chr18:9710200-9714600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr18:9710200-9733600	Weak transcription	Left Ventricle	heart
6	chr18:9710400-9714200	Weak transcription	Brain Anterior Caudate	brain
7	chr18:9710400-9715200	Enhancers	K562	blood
8	chr18:9710400-9716800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:9710400-9718800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr18:9710400-9732000	Weak transcription	Fetal Stomach	stomach
11	chr18:9710600-9713600	Enhancers	Brain Cingulate Gyrus	brain
12	chr18:9710800-9717400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr18:9711000-9713600	Enhancers	Adipose Nuclei	Adipose
14	chr18:9711000-9715400	Enhancers	Brain Hippocampus Middle	brain
15	chr18:9711400-9713600	Enhancers	Small Intestine	intestine
16	chr18:9711400-9718200	Enhancers	Primary B cells from peripheral blood	blood
17	chr18:9711400-9718600	Weak transcription	NHEK	skin
18	chr18:9711600-9713600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:9712000-9715000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr18:9712000-9715000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr18:9712000-9718600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:9712200-9713600	Enhancers	Fetal Brain Male	brain
23	chr18:9712400-9713400	Flanking Active TSS	Hela-S3	cervix
24	chr18:9712400-9714200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr18:9712400-9714400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr18:9712400-9714800	Weak transcription	Gastric	stomach
27	chr18:9712400-9714800	Weak transcription	Spleen	Spleen
28	chr18:9712400-9718800	Weak transcription	HMEC	breast
29	chr18:9712400-9719000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr18:9712400-9719000	Weak transcription	Esophagus	oesophagus
31	chr18:9712400-9719400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr18:9712400-9720200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr18:9712400-9720200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr18:9712400-9722000	Weak transcription	Aorta	Aorta
35	chr18:9712600-9714800	Weak transcription	Lung	lung
36	chr18:9712600-9718600	Weak transcription	NHLF	lung
37	chr18:9712600-9719400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr18:9712600-9719600	Weak transcription	Ovary	ovary
39	chr18:9712600-9723600	Weak transcription	Fetal Muscle Leg	muscle
40	chr18:9712600-9723600	Weak transcription	Placenta	Placenta
41	chr18:9712800-9713400	Weak transcription	GM12878-XiMat	blood
42	chr18:9712800-9714200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr18:9712800-9719600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr18:9712800-9720000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr18:9712800-9732000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr18:9713000-9713600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr18:9713000-9713800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr18:9713000-9714000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr18:9713000-9714000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
50	chr18:9713000-9714400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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