Variant report

Variant	rs7073291
Chromosome Location	chr10:95751075-95751076
allele	A/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	EP300	chr10:95750788-95752085	T-47D	breast:	n/a	chr10:95751987-95751996 chr10:95751988-95751997
2	FOXA1	chr10:95750805-95751186	T-47D	breast:	n/a	n/a
3	GATA3	chr10:95750722-95751197	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:95735923..95738579-chr10:95750156..95752956,2	MCF-7	breast:

Variant related genes	Relation type
PLCE1	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10882378	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882380	0.82[CEU][hapmap];0.87[CHB][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11187741	0.89[ASN][1000 genomes]
rs11187760	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11187765	0.94[CHB][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11187767	0.82[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11594479	0.89[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11599672	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12573786	0.89[ASN][1000 genomes]
rs35038192	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3814689	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61866000	0.89[ASN][1000 genomes]
rs61866026	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61886277	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6583922	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7071652	0.82[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7094594	0.89[ASN][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	nsv1038218	chr10:95728508-95751499	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7073291	ALDH18A1	cis	parietal	SCAN
rs7073291	PLCE1	cis	parietal	SCAN
rs7073291	ANKRD2	cis	parietal	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95750000-95753200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr10:95750400-95751200	Enhancers	Pancreas	Pancrea
3	chr10:95750400-95751400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr10:95750400-95751600	Enhancers	Fetal Muscle Leg	muscle
5	chr10:95750400-95753000	Enhancers	Brain Germinal Matrix	brain
6	chr10:95750400-95753000	Enhancers	Fetal Stomach	stomach
7	chr10:95750400-95753000	Enhancers	Stomach Mucosa	stomach
8	chr10:95750400-95753200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr10:95750600-95751400	Enhancers	NH-A	brain
10	chr10:95750600-95751600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:95750600-95751600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:95750600-95751600	Enhancers	HSMM	muscle
13	chr10:95750600-95752000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr10:95750600-95752000	Enhancers	Hela-S3	cervix
15	chr10:95750600-95752000	Enhancers	HSMMtube	muscle
16	chr10:95750600-95752400	Enhancers	HepG2	liver
17	chr10:95750600-95752600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr10:95750600-95752800	Enhancers	Fetal Brain Female	brain
19	chr10:95750600-95753000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:95750600-95753000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr10:95750600-95753000	Enhancers	Fetal Heart	heart
22	chr10:95750600-95753200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:95750600-95753200	Enhancers	Fetal Intestine Small	intestine
24	chr10:95750800-95751200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:95750800-95751200	Enhancers	Aorta	Aorta
26	chr10:95750800-95751200	Bivalent Enhancer	Small Intestine	intestine
27	chr10:95750800-95751400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr10:95750800-95751400	Enhancers	Osteobl	bone
29	chr10:95750800-95751600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr10:95750800-95751600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:95750800-95751600	Enhancers	Right Ventricle	heart
32	chr10:95750800-95751600	Enhancers	NHLF	lung
33	chr10:95750800-95751800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr10:95750800-95752000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
35	chr10:95750800-95752000	Flanking Active TSS	A549	lung
36	chr10:95750800-95752400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
37	chr10:95750800-95752400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:95750800-95752600	Enhancers	Duodenum Mucosa	Duodenum
39	chr10:95750800-95752600	Enhancers	Stomach Smooth Muscle	stomach
40	chr10:95750800-95752800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr10:95750800-95752800	Enhancers	Brain Hippocampus Middle	brain
42	chr10:95750800-95753000	Enhancers	Fetal Intestine Large	intestine
43	chr10:95750800-95753000	Enhancers	Left Ventricle	heart
44	chr10:95750800-95753000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr10:95750800-95753000	Enhancers	Right Atrium	heart
46	chr10:95750800-95753000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr10:95751000-95751200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr10:95751000-95751400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr10:95751000-95751400	Enhancers	Brain Substantia Nigra	brain
50	chr10:95751000-95751600	Enhancers	Adipose Nuclei	Adipose

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