Variant report

Variant	rs12326272
Chromosome Location	chr18:9741664-9741665
allele	A/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9713404..9715931-chr18:9740263..9743075,2	K562	blood:
2	chr18:9705846..9708246-chr18:9741339..9743052,2	MCF-7	breast:
3	chr18:9686886..9688402-chr18:9740468..9742300,2	K562	blood:
4	chr18:9707781..9712452-chr18:9739628..9745256,6	K562	blood:
5	chr18:9731963..9738554-chr18:9740350..9745076,12	MCF-7	breast:
6	chr18:9741489..9744706-chr18:9745971..9750071,5	MCF-7	breast:
7	chr18:9718684..9720358-chr18:9741067..9743489,2	MCF-7	breast:
8	chr18:9740906..9742512-chr18:9748438..9750516,2	K562	blood:
9	chr18:9692476..9694286-chr18:9740160..9742430,2	K562	blood:
10	chr18:9612904..9615283-chr18:9739414..9742269,2	MCF-7	breast:
11	chr18:9738452..9742707-chr18:9761334..9764195,4	K562	blood:
12	chr18:9725743..9727920-chr18:9740670..9742865,2	MCF-7	breast:
13	chr18:9740906..9743732-chr18:9749016..9751277,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266891	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000263627	Chromatin interaction
ENSG00000168461	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1893127	1.00[AMR][1000 genomes]
rs73385080	1.00[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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9720000-9742000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr18:9733000-9742000	Weak transcription	Aorta	Aorta
3	chr18:9733000-9743600	Weak transcription	Gastric	stomach
4	chr18:9733800-9742000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr18:9734400-9741800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:9734400-9741800	Weak transcription	Fetal Lung	lung
7	chr18:9734600-9741800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr18:9734800-9742000	Weak transcription	Stomach Mucosa	stomach
9	chr18:9734800-9742200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr18:9735600-9741800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr18:9736000-9741800	Weak transcription	Fetal Stomach	stomach
12	chr18:9736200-9742000	Weak transcription	Fetal Thymus	thymus
13	chr18:9736600-9741800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr18:9736600-9741800	Weak transcription	Small Intestine	intestine
15	chr18:9737600-9742400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr18:9737600-9742600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr18:9737800-9741800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr18:9737800-9742000	Weak transcription	Fetal Kidney	kidney
19	chr18:9738000-9741800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr18:9738000-9744000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr18:9738200-9741800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:9738200-9742000	Enhancers	Brain Anterior Caudate	brain
23	chr18:9738200-9742000	Weak transcription	Fetal Intestine Small	intestine
24	chr18:9738200-9742000	Weak transcription	Pancreas	Pancrea
25	chr18:9738200-9742400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr18:9738200-9743800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr18:9738200-9746000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr18:9738400-9741800	Weak transcription	Brain Angular Gyrus	brain
29	chr18:9738400-9742200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr18:9738600-9742400	Weak transcription	Fetal Brain Female	brain
31	chr18:9738800-9742200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr18:9739000-9742000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr18:9739000-9742400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr18:9739400-9741800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr18:9739600-9742000	Enhancers	Brain Substantia Nigra	brain
36	chr18:9739600-9742000	Enhancers	NH-A	brain
37	chr18:9739600-9742200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr18:9739600-9742800	Enhancers	Osteobl	bone
39	chr18:9739800-9742000	Enhancers	Brain Cingulate Gyrus	brain
40	chr18:9739800-9742600	Enhancers	HUVEC	blood vessel
41	chr18:9739800-9742800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr18:9739800-9744200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr18:9740000-9744200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr18:9740200-9742000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr18:9740400-9741800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr18:9740400-9741800	Weak transcription	HMEC	breast
47	chr18:9740600-9742000	Enhancers	Brain Hippocampus Middle	brain
48	chr18:9740600-9744000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr18:9740800-9742000	Enhancers	Adipose Nuclei	Adipose
50	chr18:9740800-9742200	Enhancers	Stomach Smooth Muscle	stomach

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