Variant report

Variant	rs7233900
Chromosome Location	chr18:29246481-29246482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11664340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1667273	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.94[ASN][1000 genomes]
rs1791183	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2595370	1.00[JPT][hapmap]
rs2595371	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.94[ASN][1000 genomes]
rs2848683	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.94[ASN][1000 genomes]
rs55817554	0.94[ASN][1000 genomes]
rs7240561	0.86[GIH][hapmap]
rs9949056	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909519	chr18:29172865-29330214	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831348	chr18:29205526-29268786	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29219200-29252000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:29219200-29252000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr18:29227600-29252000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr18:29229400-29252800	Weak transcription	NHEK	skin
5	chr18:29231800-29251800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr18:29235600-29254800	Weak transcription	HUVEC	blood vessel
7	chr18:29235600-29257800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:29238400-29247000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr18:29239000-29252000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr18:29239200-29252200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr18:29239400-29252200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr18:29239600-29249200	Weak transcription	Dnd41	blood
13	chr18:29239600-29252000	Weak transcription	Adipose Nuclei	Adipose
14	chr18:29239600-29252600	Weak transcription	Fetal Muscle Leg	muscle
15	chr18:29239600-29253200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr18:29239600-29258000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr18:29239800-29249800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr18:29239800-29252800	Weak transcription	Fetal Thymus	thymus
19	chr18:29240000-29249200	Weak transcription	Fetal Intestine Large	intestine
20	chr18:29240400-29247000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr18:29241200-29252600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr18:29241200-29253200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr18:29242200-29247000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:29242400-29246800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:29242400-29247000	Weak transcription	NH-A	brain
26	chr18:29242400-29252000	Weak transcription	Fetal Intestine Small	intestine
27	chr18:29242400-29252200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr18:29242400-29252600	Weak transcription	Fetal Lung	lung
29	chr18:29242400-29252800	Weak transcription	A549	lung
30	chr18:29242600-29246800	Weak transcription	Osteobl	bone
31	chr18:29242600-29252800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr18:29244200-29251600	Weak transcription	GM12878-XiMat	blood
33	chr18:29244200-29252400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr18:29244400-29252200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr18:29244400-29252400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr18:29244600-29252200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr18:29244600-29255400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr18:29244600-29257600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr18:29245000-29247000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr18:29245200-29252000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr18:29245200-29252400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr18:29245800-29252400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr18:29246200-29247000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr18:29246200-29251800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr18:29246400-29250200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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