Variant report

Variant	rs7908760
Chromosome Location	chr10:90977996-90977997
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:90977663..90978549-chr16:17305673..17306359,2	MCF-7	breast:
2	chr10:90789320..90789878-chr10:90977149..90978105,4	MCF-7	breast:
3	chr10:90694469..90695004-chr10:90977172..90978110,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11594137	0.82[CHD][hapmap]
rs12246667	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12780342	1.00[JPT][hapmap]
rs2254636	1.00[JPT][hapmap]
rs3802656	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4933497	0.83[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758235	chr10:90835064-91017486	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2759775	chr10:90835064-91017486	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv1038123	chr10:90954417-90992129	Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1040280	chr10:90962032-90979093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7908760	LIPA	cis	cerebellum	SCAN
rs7908760	PAPSS2	cis	parietal	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90967600-90987200	Weak transcription	Aorta	Aorta
2	chr10:90968200-90979800	Weak transcription	Ovary	ovary
3	chr10:90968200-90983400	Weak transcription	NHLF	lung
4	chr10:90968200-90994800	Weak transcription	Gastric	stomach
5	chr10:90968400-90979400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:90968400-90979400	Weak transcription	Esophagus	oesophagus
7	chr10:90968400-90979400	Weak transcription	Lung	lung
8	chr10:90968400-90979600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr10:90968400-90987200	Weak transcription	Pancreas	Pancrea
10	chr10:90968400-91000800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:90968400-91002200	Weak transcription	Right Ventricle	heart
12	chr10:90970800-90984600	Weak transcription	Fetal Brain Female	brain
13	chr10:90971400-90980600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr10:90971400-90984600	Weak transcription	Fetal Brain Male	brain
15	chr10:90973000-90979400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:90973600-90980200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr10:90973600-91001000	Weak transcription	Small Intestine	intestine
18	chr10:90974000-90979600	Enhancers	Brain Hippocampus Middle	brain
19	chr10:90974000-90984400	Weak transcription	Thymus	Thymus
20	chr10:90975600-90978200	Weak transcription	HMEC	breast
21	chr10:90975600-90978800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr10:90975600-90979000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr10:90975600-90979000	Weak transcription	Fetal Intestine Large	intestine
24	chr10:90975600-90979600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr10:90975600-90979800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr10:90975600-90979800	Weak transcription	Fetal Muscle Leg	muscle
27	chr10:90975600-90981800	Weak transcription	Left Ventricle	heart
28	chr10:90975600-90986800	Weak transcription	HepG2	liver
29	chr10:90975600-90994800	Weak transcription	Spleen	Spleen
30	chr10:90975800-90979000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr10:90975800-90979400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr10:90975800-90979600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr10:90976000-90979000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr10:90976000-90979000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr10:90976000-90979000	Weak transcription	Placenta	Placenta
36	chr10:90976000-90979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr10:90976000-90980200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr10:90976800-90982400	Enhancers	Liver	Liver
39	chr10:90977000-90978000	Enhancers	HUVEC	blood vessel
40	chr10:90977000-90978400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr10:90977000-90978400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr10:90977000-90978400	Enhancers	Fetal Heart	heart
43	chr10:90977200-90987400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr10:90977400-90978200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr10:90977400-90978200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr10:90977400-90978600	Enhancers	Brain Cingulate Gyrus	brain
47	chr10:90977400-90978800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr10:90977400-90979000	Weak transcription	NHEK	skin
49	chr10:90977400-90979400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr10:90977400-90979400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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