Variant report

Variant	rs12604916
Chromosome Location	chr18:29438142-29438143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs12604977	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12605853	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2276143	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3810000	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59301557	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	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
2	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
3	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29405600-29481800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
3	chr18:29408000-29460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:29408600-29471800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr18:29409000-29439000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr18:29409000-29456600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr18:29409800-29466600	Weak transcription	Gastric	stomach
8	chr18:29413800-29456600	Weak transcription	Spleen	Spleen
9	chr18:29414200-29444800	Strong transcription	Fetal Thymus	thymus
10	chr18:29414400-29448200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr18:29415800-29461800	Weak transcription	Fetal Heart	heart
12	chr18:29416200-29456600	Weak transcription	Aorta	Aorta
13	chr18:29417600-29515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:29418400-29454800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr18:29418400-29470400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr18:29418600-29454400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr18:29418600-29456600	Weak transcription	Right Ventricle	heart
18	chr18:29418800-29454800	Weak transcription	Colonic Mucosa	Colon
19	chr18:29418800-29456600	Weak transcription	NHEK	skin
20	chr18:29419000-29460400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr18:29419000-29461800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr18:29419400-29458600	Weak transcription	NHLF	lung
23	chr18:29421600-29448200	Strong transcription	Dnd41	blood
24	chr18:29421800-29439800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr18:29421800-29448400	Strong transcription	Adipose Nuclei	Adipose
26	chr18:29421800-29455400	Strong transcription	Liver	Liver
27	chr18:29422000-29438400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr18:29422000-29445000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr18:29422000-29448200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:29422000-29448200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr18:29422000-29448200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr18:29422000-29448400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr18:29422200-29438400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr18:29422200-29447600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr18:29422800-29455200	Weak transcription	Ovary	ovary
36	chr18:29423000-29445200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr18:29423200-29448400	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr18:29423800-29439200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:29424000-29438800	Strong transcription	Placenta	Placenta
40	chr18:29424000-29447200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr18:29424000-29448400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr18:29425200-29448600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr18:29425800-29445400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr18:29425800-29456600	Weak transcription	Fetal Brain Female	brain
45	chr18:29426800-29454400	Weak transcription	Esophagus	oesophagus
46	chr18:29428000-29438400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr18:29428400-29454600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr18:29428600-29439200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr18:29429000-29453200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr18:29431800-29438400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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