Variant report

Variant	rs12605340
Chromosome Location	chr18:9195181-9195182
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9189637..9191991-chr18:9193161..9195966,2	K562	blood:
2	chr18:9135915..9137824-chr18:9194785..9197599,2	K562	blood:

Variant related genes	Relation type
ENSG00000101745	Chromatin interaction
ENSG00000266053	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs62085888	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7238828	0.96[ASN][1000 genomes]
rs7506347	0.95[ASN][1000 genomes]
rs9675608	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9946176	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9952621	0.87[ASN][1000 genomes]
rs998172	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1055696	chr18:9191679-9309805	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9164400-9200600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr18:9165600-9195400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr18:9172000-9216200	Weak transcription	Fetal Brain Female	brain
4	chr18:9173000-9208400	Weak transcription	NHLF	lung
5	chr18:9174600-9233600	Weak transcription	Spleen	Spleen
6	chr18:9174800-9211000	Weak transcription	Hela-S3	cervix
7	chr18:9174800-9233600	Weak transcription	Pancreas	Pancrea
8	chr18:9178000-9221800	Weak transcription	Fetal Heart	heart
9	chr18:9180200-9214200	Weak transcription	A549	lung
10	chr18:9181200-9199800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr18:9181600-9214200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr18:9182600-9198600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:9183400-9211400	Weak transcription	Brain Germinal Matrix	brain
14	chr18:9183800-9225600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr18:9184600-9233800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr18:9184800-9200800	Weak transcription	Gastric	stomach
17	chr18:9185200-9200800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr18:9185200-9233800	Weak transcription	Right Ventricle	heart
19	chr18:9185400-9195600	Weak transcription	Osteobl	bone
20	chr18:9185400-9214200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr18:9185400-9223400	Weak transcription	Stomach Mucosa	stomach
22	chr18:9185600-9211000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr18:9185600-9232400	Weak transcription	Colonic Mucosa	Colon
24	chr18:9185800-9195600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr18:9185800-9200400	Weak transcription	Brain Hippocampus Middle	brain
26	chr18:9185800-9215200	Weak transcription	Small Intestine	intestine
27	chr18:9186000-9195800	Weak transcription	HepG2	liver
28	chr18:9186000-9203800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr18:9186000-9214400	Weak transcription	Brain Angular Gyrus	brain
30	chr18:9186600-9200000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr18:9186800-9200800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr18:9187000-9197600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr18:9187000-9199800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr18:9187000-9221800	Weak transcription	Fetal Brain Male	brain
35	chr18:9187200-9197200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr18:9187200-9201200	Strong transcription	GM12878-XiMat	blood
37	chr18:9187400-9200200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr18:9187400-9200800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr18:9188000-9198000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr18:9188200-9198400	Strong transcription	Liver	Liver
41	chr18:9188400-9214400	Weak transcription	Brain Anterior Caudate	brain
42	chr18:9188400-9233600	Weak transcription	Esophagus	oesophagus
43	chr18:9188600-9204000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr18:9188600-9205400	Weak transcription	Colon Smooth Muscle	Colon
45	chr18:9188600-9233600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr18:9188800-9200600	Weak transcription	Brain Substantia Nigra	brain
47	chr18:9188800-9211600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr18:9188800-9218200	Weak transcription	Thymus	Thymus
49	chr18:9189000-9195600	Weak transcription	HUVEC	blood vessel
50	chr18:9189000-9200800	Weak transcription	Fetal Kidney	kidney

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