Variant report

Variant	rs12456949
Chromosome Location	chr18:28656261-28656262
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	chr18:28655509..28657780-chr18:28673533..28675759,2	K562	blood:
2	chr18:28651842..28653529-chr18:28655723..28658009,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238376	Chromatin interaction

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

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

rs_ID	r²[population]
rs1893961	0.94[ASN][1000 genomes]
rs1893962	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1893963	0.94[ASN][1000 genomes]
rs59914360	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9304077	0.94[ASN][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	esv3388313	chr18:28583296-28693160	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530788	chr18:28596461-28751891	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv2244	chr18:28635554-28666380	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28640800-28680400	Weak transcription	Right Ventricle	heart
2	chr18:28642200-28666600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:28642200-28670800	Weak transcription	Fetal Heart	heart
4	chr18:28642800-28680600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr18:28644400-28671400	Weak transcription	Brain Anterior Caudate	brain
6	chr18:28644800-28673600	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr18:28645400-28675000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr18:28645800-28660000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr18:28646200-28658000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr18:28646800-28673200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:28647000-28679400	Weak transcription	Fetal Kidney	kidney
12	chr18:28647200-28656400	Strong transcription	Fetal Intestine Large	intestine
13	chr18:28647200-28667200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr18:28647400-28656400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr18:28648600-28678800	Weak transcription	Brain Hippocampus Middle	brain
16	chr18:28649000-28668000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr18:28649200-28680800	Weak transcription	Gastric	stomach
18	chr18:28649400-28679600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr18:28649600-28660000	Weak transcription	Colonic Mucosa	Colon
20	chr18:28650200-28675800	Weak transcription	Stomach Mucosa	stomach
21	chr18:28651600-28661800	Weak transcription	Placenta	Placenta
22	chr18:28651800-28660200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:28652200-28661200	Weak transcription	Brain Substantia Nigra	brain
24	chr18:28652800-28679800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr18:28653200-28656600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr18:28653200-28658600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr18:28653400-28656400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr18:28653400-28656400	Strong transcription	Fetal Intestine Small	intestine
29	chr18:28653600-28656600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr18:28653600-28658200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr18:28654200-28657600	Weak transcription	NHEK	skin
32	chr18:28654200-28662400	Weak transcription	Pancreas	Pancrea
33	chr18:28654200-28666400	Weak transcription	K562	blood
34	chr18:28654200-28679800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr18:28654200-28679800	Weak transcription	Lung	lung
36	chr18:28654200-28679800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr18:28654400-28659600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr18:28654400-28674800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr18:28654800-28656800	Weak transcription	Adipose Nuclei	Adipose
40	chr18:28654800-28657800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr18:28654800-28658600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr18:28654800-28660000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr18:28654800-28666400	Weak transcription	Esophagus	oesophagus
44	chr18:28655000-28657400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr18:28655000-28659600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr18:28655000-28659800	Weak transcription	Left Ventricle	heart
47	chr18:28655000-28660400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr18:28655200-28659200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr18:28655200-28660400	Weak transcription	HepG2	liver
50	chr18:28655400-28656400	Weak transcription	Liver	Liver

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