Variant report

Variant	rs72493178
Chromosome Location	chr3:135972597-135972598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1153871	0.85[ASN][1000 genomes]
rs12330635	0.94[ASN][1000 genomes]
rs1278719	0.85[ASN][1000 genomes]
rs1279425	0.85[ASN][1000 genomes]
rs1279840	0.85[ASN][1000 genomes]
rs1291921	0.84[ASN][1000 genomes]
rs1618069	0.85[ASN][1000 genomes]
rs1711171	0.85[ASN][1000 genomes]
rs3755636	0.93[ASN][1000 genomes]
rs4678428	0.88[ASN][1000 genomes]
rs483465	0.85[ASN][1000 genomes]
rs534944	0.85[ASN][1000 genomes]
rs548288	0.93[ASN][1000 genomes]
rs576771	0.83[ASN][1000 genomes]
rs606725	0.91[ASN][1000 genomes]
rs632016	0.89[ASN][1000 genomes]
rs650505	0.87[ASN][1000 genomes]
rs665200	0.88[ASN][1000 genomes]
rs667920	0.83[ASN][1000 genomes]
rs6770476	0.86[ASN][1000 genomes]
rs684773	0.85[ASN][1000 genomes]
rs73222262	0.99[ASN][1000 genomes]
rs7628146	0.88[ASN][1000 genomes]
rs9809427	0.82[ASN][1000 genomes]
rs9832813	0.86[ASN][1000 genomes]
rs9848883	0.94[ASN][1000 genomes]
rs9854328	0.81[ASN][1000 genomes]
rs9856769	0.94[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	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv508246	chr3:135922023-136038622	Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv933522	chr3:135968919-135981180	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
4	nsv948461	chr3:135969755-136349636	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr3:135970000-135974400	Weak transcription	Ovary	ovary
2	chr3:135970000-135977200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:135970000-135980000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:135970200-135973400	Weak transcription	Fetal Stomach	stomach
5	chr3:135970200-135974400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:135970200-135974600	Weak transcription	Left Ventricle	heart
7	chr3:135970200-135975000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr3:135970200-135979000	Weak transcription	Esophagus	oesophagus
9	chr3:135970200-135980400	Weak transcription	Gastric	stomach
10	chr3:135970200-135984000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:135970200-135996000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:135970400-135974000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:135970400-135974200	Weak transcription	Thymus	Thymus
14	chr3:135970400-135974200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr3:135970400-135974400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:135970400-135974400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:135970400-135974400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:135970400-135974400	Weak transcription	Fetal Lung	lung
19	chr3:135970400-135974600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr3:135970400-135974800	Weak transcription	Colonic Mucosa	Colon
21	chr3:135970400-135975000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:135970400-135975000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:135970400-135975200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr3:135970400-135975200	Weak transcription	NH-A	brain
25	chr3:135970400-135975600	Weak transcription	Aorta	Aorta
26	chr3:135970400-135975600	Weak transcription	Brain Germinal Matrix	brain
27	chr3:135970400-135975600	Weak transcription	Lung	lung
28	chr3:135970400-135975800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:135970400-135979000	Weak transcription	HUVEC	blood vessel
30	chr3:135970400-135981600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr3:135970400-135995400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:135970600-135973800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr3:135970600-135974000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:135970600-135974000	Weak transcription	Brain Anterior Caudate	brain
35	chr3:135970600-135974000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:135970600-135974000	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:135970600-135974000	Weak transcription	Fetal Thymus	thymus
38	chr3:135970600-135974000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr3:135970600-135974000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr3:135970600-135974200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:135970600-135974200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr3:135970600-135974200	Weak transcription	Stomach Mucosa	stomach
43	chr3:135970600-135974200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr3:135970600-135974400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr3:135970600-135974400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:135970600-135974400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:135970600-135974400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr3:135970600-135974400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:135970600-135974400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr3:135970600-135974600	Weak transcription	H1 Cell Line	embryonic stem cell

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