Variant report

Variant	rs12458988
Chromosome Location	chr18:8834686-8834687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8833393..8835134-chr18:8840245..8842798,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12962546	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12970680	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs690311	0.81[ASN][1000 genomes]
rs8090953	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8091169	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv909363	chr18:8775184-8858086	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8801200-8834800	Weak transcription	Esophagus	oesophagus
2	chr18:8807800-8835200	Weak transcription	Right Ventricle	heart
3	chr18:8817200-8834800	Weak transcription	Psoas Muscle	Psoas
4	chr18:8821600-8834800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:8822400-8836800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr18:8825600-8835200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr18:8825800-8835000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr18:8826200-8835000	Weak transcription	Placenta	Placenta
9	chr18:8826200-8839600	Weak transcription	Brain Angular Gyrus	brain
10	chr18:8826400-8834800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr18:8826400-8841600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr18:8826800-8835200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr18:8827200-8834800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr18:8827400-8834800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:8827400-8835000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:8827600-8834800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr18:8827600-8835200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr18:8827600-8839000	Weak transcription	Pancreas	Pancrea
19	chr18:8828400-8837000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr18:8829200-8835000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr18:8829200-8839000	Weak transcription	Fetal Brain Male	brain
22	chr18:8829200-8839000	Weak transcription	Gastric	stomach
23	chr18:8830200-8834800	Weak transcription	NHLF	lung
24	chr18:8830600-8834800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr18:8830600-8834800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr18:8830600-8835600	Weak transcription	Brain Germinal Matrix	brain
27	chr18:8830800-8834800	Weak transcription	Fetal Stomach	stomach
28	chr18:8831200-8835600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr18:8831600-8835200	Weak transcription	NHEK	skin
30	chr18:8831800-8834800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr18:8831800-8834800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr18:8831800-8834800	Weak transcription	HMEC	breast
33	chr18:8832800-8841200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr18:8833200-8834800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr18:8833200-8835200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr18:8833600-8834800	Weak transcription	NH-A	brain
37	chr18:8834000-8834800	Weak transcription	A549	lung
38	chr18:8834400-8836000	Enhancers	Fetal Muscle Leg	muscle
39	chr18:8834600-8834800	Enhancers	HSMMtube	muscle
40	chr18:8834600-8835000	Enhancers	Stomach Smooth Muscle	stomach
41	chr18:8834600-8835800	Enhancers	NHDF-Ad	bronchial
42	chr18:8834600-8836000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr18:8834600-8836000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr18:8834600-8836000	Enhancers	Colon Smooth Muscle	Colon
45	chr18:8834600-8836000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr18:8834600-8836000	Enhancers	K562	blood
47	chr18:8834600-8836000	Enhancers	Osteobl	bone
48	chr18:8834600-8836200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr18:8834600-8836200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr18:8834600-8836400	Enhancers	HSMM	muscle

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