Variant report

Variant	rs17348181
Chromosome Location	chr3:155394761-155394762
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	MXI1	chr3:155393704-155394866	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
PLCH1	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1074496	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11926902	0.80[EUR][1000 genomes]
rs11927334	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs12628990	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs1610251	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs16825084	1.00[CEU][hapmap]
rs16825099	1.00[CEU][hapmap]
rs16825113	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs16825341	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17347364	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17413466	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17414074	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17414810	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1850850	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2320186	0.85[CEU][hapmap]
rs3914781	0.85[CEU][hapmap]
rs4389522	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs6441010	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6441011	0.96[EUR][1000 genomes]
rs66459918	0.95[EUR][1000 genomes]
rs67668024	0.81[EUR][1000 genomes]
rs6769113	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6794329	0.88[EUR][1000 genomes]
rs73154261	0.80[EUR][1000 genomes]
rs73154265	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73154266	0.80[EUR][1000 genomes]
rs73154268	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73154269	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73154284	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73154298	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73154302	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73156504	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73156517	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73156519	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73156544	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73156548	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73156551	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73156552	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73156561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73156578	0.88[EUR][1000 genomes]
rs7611680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7617369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7630469	0.85[CEU][hapmap]
rs7633176	0.82[CEU][hapmap]
rs7633226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009618	chr3:155370034-155492177	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155383400-155395800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:155393200-155395000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:155393800-155394800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
4	chr3:155393800-155394800	Active TSS	Brain Anterior Caudate	brain
5	chr3:155393800-155394800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:155393800-155395000	Enhancers	Stomach Mucosa	stomach
7	chr3:155394000-155394800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:155394000-155394800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:155394000-155394800	Active TSS	Brain Angular Gyrus	brain
10	chr3:155394000-155394800	Active TSS	Brain Substantia Nigra	brain
11	chr3:155394200-155394800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:155394200-155394800	Active TSS	Colon Smooth Muscle	Colon
13	chr3:155394200-155394800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr3:155394200-155394800	Flanking Active TSS	Fetal Kidney	kidney
15	chr3:155394400-155394800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:155394400-155395200	Enhancers	Fetal Intestine Small	intestine
17	chr3:155394600-155394800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:155394600-155394800	Enhancers	Brain Hippocampus Middle	brain
19	chr3:155394600-155394800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr3:155394600-155394800	Flanking Active TSS	Fetal Brain Female	brain
21	chr3:155394600-155394800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr3:155394600-155394800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr3:155394600-155394800	Flanking Active TSS	A549	lung
24	chr3:155394600-155394800	Enhancers	NH-A	brain
25	chr3:155394600-155395000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:155394600-155395000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr3:155394600-155395000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr3:155394600-155395000	Enhancers	Duodenum Mucosa	Duodenum
29	chr3:155394600-155395000	Enhancers	Fetal Brain Male	brain
30	chr3:155394600-155395000	Weak transcription	Fetal Intestine Large	intestine
31	chr3:155394600-155395000	Enhancers	Fetal Lung	lung
32	chr3:155394600-155395000	Enhancers	Rectal Smooth Muscle	rectum
33	chr3:155394600-155395000	Enhancers	HepG2	liver
34	chr3:155394600-155395200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
35	chr3:155394600-155395200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr3:155394600-155395200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:155394600-155400000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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