Variant report

Variant	rs7240703
Chromosome Location	chr18:28642585-28642586
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	RELA	chr18:28641859-28642717	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:28641189..28643310-chr18:28664453..28667293,2	K562	blood:
2	chr18:28633421..28635335-chr18:28642535..28645515,2	K562	blood:
3	chr18:28640333..28642657-chr18:28648234..28652025,3	K562	blood:

Variant related genes	Relation type
ENSG00000261521	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9946137	0.83[YRI][hapmap]

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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28636400-28645000	Weak transcription	Fetal Intestine Large	intestine
2	chr18:28636600-28644800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:28636600-28645200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr18:28637000-28643800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:28637000-28645000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr18:28637000-28647400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr18:28637200-28649000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr18:28638000-28647400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr18:28638200-28649000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:28638400-28645400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr18:28639000-28647400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr18:28639200-28647600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr18:28639200-28648600	Weak transcription	Pancreas	Pancrea
14	chr18:28639400-28646800	Weak transcription	HepG2	liver
15	chr18:28640600-28648000	Weak transcription	Left Ventricle	heart
16	chr18:28640600-28648800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr18:28640800-28680400	Weak transcription	Right Ventricle	heart
18	chr18:28641000-28643000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr18:28641200-28642800	Enhancers	Primary hematopoietic stem cells	blood
20	chr18:28641600-28642800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr18:28641600-28642800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr18:28641800-28642800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr18:28641800-28642800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr18:28642200-28643600	Weak transcription	HMEC	breast
25	chr18:28642200-28645000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:28642200-28666600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr18:28642200-28670800	Weak transcription	Fetal Heart	heart
28	chr18:28642400-28643600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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