Variant report

Variant	rs1893962
Chromosome Location	chr18:28649166-28649167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:28649105-28649252	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:28637499..28640163-chr18:28647964..28650502,2	K562	blood:
2	chr18:28640333..28642657-chr18:28648234..28652025,3	K562	blood:

Variant related genes	Relation type
ENSG00000238376	TF binding region
ENSG00000261521	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12456949	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17656537	0.88[CEU][hapmap]
rs1893961	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1893963	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs59914360	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304077	1.00[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:51 , 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	chr18:28645000-28652400	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr18:28645400-28675000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr18:28645600-28651200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr18:28645800-28653400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr18:28645800-28653800	Weak transcription	NHEK	skin
12	chr18:28645800-28660000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr18:28646200-28655800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:28646200-28658000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr18:28646600-28655000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:28646800-28650000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:28646800-28652000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr18:28646800-28652200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr18:28646800-28652400	Strong transcription	HepG2	liver
20	chr18:28646800-28673200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr18:28647000-28679400	Weak transcription	Fetal Kidney	kidney
22	chr18:28647200-28655400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr18:28647200-28655400	Strong transcription	Liver	Liver
24	chr18:28647200-28656400	Strong transcription	Fetal Intestine Large	intestine
25	chr18:28647200-28667200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr18:28647400-28650800	Strong transcription	K562	blood
27	chr18:28647400-28651800	Strong transcription	Adipose Nuclei	Adipose
28	chr18:28647400-28652000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr18:28647400-28652000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr18:28647400-28652400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr18:28647400-28652400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr18:28647400-28655000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr18:28647400-28655400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr18:28647400-28656400	Strong transcription	Duodenum Mucosa	Duodenum
35	chr18:28647600-28654400	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr18:28647800-28651600	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr18:28648000-28649200	Strong transcription	Gastric	stomach
38	chr18:28648000-28649400	Strong transcription	Left Ventricle	heart
39	chr18:28648200-28649800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr18:28648600-28649400	Strong transcription	HMEC	breast
41	chr18:28648600-28649600	Strong transcription	Pancreas	Pancrea
42	chr18:28648600-28678800	Weak transcription	Brain Hippocampus Middle	brain
43	chr18:28648800-28649200	Strong transcription	Placenta	Placenta
44	chr18:28648800-28649600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr18:28648800-28649600	Strong transcription	Colonic Mucosa	Colon
46	chr18:28648800-28649600	Strong transcription	Esophagus	oesophagus
47	chr18:28648800-28649800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr18:28648800-28652400	Strong transcription	Fetal Intestine Small	intestine
49	chr18:28649000-28649400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr18:28649000-28649600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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