Variant report

Variant	rs2267568
Chromosome Location	chr18:9800264-9800265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9786425..9791088-chr18:9800234..9803479,5	K562	blood:
2	chr18:9799694..9801821-chr18:9826551..9829296,3	K562	blood:
3	chr18:9665615..9667680-chr18:9799488..9802402,2	K562	blood:
4	chr18:9797850..9800689-chr18:9903448..9905596,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12454158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12455453	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2267561	0.83[EUR][1000 genomes]
rs2267565	0.85[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2267566	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2867813	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs73940033	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73940034	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8091631	0.82[ASN][1000 genomes]
rs8092013	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.80[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	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	nsv909366	chr18:9760942-9827368	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9771800-9803800	Weak transcription	Fetal Stomach	stomach
2	chr18:9771800-9807800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr18:9773600-9807000	Weak transcription	Lung	lung
4	chr18:9775600-9806400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr18:9780200-9807000	Weak transcription	Pancreas	Pancrea
6	chr18:9782400-9802600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr18:9782400-9802600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr18:9782400-9803400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr18:9783200-9802600	Weak transcription	NHLF	lung
10	chr18:9783200-9804000	Weak transcription	NHEK	skin
11	chr18:9783400-9802600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:9783400-9808600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr18:9785800-9802400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr18:9788000-9802800	Weak transcription	NH-A	brain
15	chr18:9791600-9802600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr18:9792600-9802600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr18:9792800-9802400	Weak transcription	Aorta	Aorta
18	chr18:9792800-9807000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr18:9793200-9802400	Weak transcription	Placenta	Placenta
20	chr18:9793200-9803800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr18:9794000-9802600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:9794200-9802400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr18:9794200-9803600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr18:9794600-9802200	Weak transcription	Osteobl	bone
25	chr18:9795800-9802400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr18:9797400-9801800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr18:9797600-9801600	Weak transcription	Colon Smooth Muscle	Colon
28	chr18:9797600-9801800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr18:9797600-9802400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr18:9797600-9802400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr18:9797600-9802600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr18:9797600-9802600	Weak transcription	HSMMtube	muscle
33	chr18:9797600-9802800	Weak transcription	HSMM	muscle
34	chr18:9797600-9803000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr18:9798200-9801800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr18:9798200-9804200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr18:9798400-9801400	Strong transcription	Hela-S3	cervix
38	chr18:9798400-9801600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr18:9798400-9801600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr18:9798400-9801800	Weak transcription	Brain Angular Gyrus	brain
41	chr18:9798400-9802400	Weak transcription	Left Ventricle	heart
42	chr18:9798400-9802400	Weak transcription	NHDF-Ad	bronchial
43	chr18:9798400-9802600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr18:9798400-9802600	Weak transcription	Adipose Nuclei	Adipose
45	chr18:9798400-9802600	Weak transcription	Brain Anterior Caudate	brain
46	chr18:9798400-9803400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr18:9798400-9803600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr18:9798400-9803800	Weak transcription	Fetal Lung	lung
49	chr18:9798600-9801600	Weak transcription	K562	blood
50	chr18:9798600-9802200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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