Variant report

Variant	rs1992721
Chromosome Location	chr8:120597417-120597418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120595191..120597599-chr8:120606307..120609301,2	MCF-7	breast:
2	chr8:120591734..120593334-chr8:120594765..120597476,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12676315	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12678907	0.86[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17194431	0.85[ASW][hapmap];0.92[CEU][hapmap];0.91[CHB][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.87[MKK][hapmap];0.87[TSI][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2249015	0.86[LWK][hapmap];0.89[YRI][hapmap]
rs2289885	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2326304	0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.85[ASN][1000 genomes]
rs2326305	0.85[ASN][1000 genomes]
rs2326306	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2875906	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs3793378	0.86[ASW][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6469833	0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs9297600	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs976423	0.81[AFR][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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1992721	ENPP2	cis	multi-tissue	Pritchard

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120566000-120609200	Weak transcription	Aorta	Aorta
2	chr8:120568200-120598000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:120569600-120613600	Weak transcription	Small Intestine	intestine
4	chr8:120572200-120614200	Weak transcription	Fetal Intestine Large	intestine
5	chr8:120573000-120607200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:120587000-120598400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:120589000-120598000	Strong transcription	Fetal Lung	lung
8	chr8:120589600-120603000	Genic enhancers	NHDF-Ad	bronchial
9	chr8:120591000-120605400	Weak transcription	Fetal Brain Male	brain
10	chr8:120591600-120600000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:120592400-120598800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:120592800-120597800	Weak transcription	HSMMtube	muscle
13	chr8:120592800-120599000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:120593000-120604800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr8:120593800-120599600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:120593800-120599800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:120593800-120600000	Strong transcription	Liver	Liver
18	chr8:120594000-120598000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:120594200-120598800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:120594400-120597600	Weak transcription	NH-A	brain
21	chr8:120595200-120599200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:120595400-120597800	Weak transcription	NHEK	skin
23	chr8:120595400-120598400	Strong transcription	Adipose Nuclei	Adipose
24	chr8:120595600-120597600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:120595600-120598400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:120595600-120601200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:120595600-120601400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:120595600-120638000	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:120595800-120598000	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:120595800-120598200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:120595800-120599000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:120595800-120633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:120595800-120637800	Weak transcription	Fetal Stomach	stomach
34	chr8:120596000-120598600	Weak transcription	Brain Anterior Caudate	brain
35	chr8:120596000-120598800	Weak transcription	Brain Angular Gyrus	brain
36	chr8:120596200-120598000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:120596200-120598200	Weak transcription	HMEC	breast
38	chr8:120596200-120598400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:120596200-120606800	Weak transcription	Primary T cells from cord blood	blood
40	chr8:120596400-120597800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:120596600-120597600	Weak transcription	Brain Substantia Nigra	brain
42	chr8:120596800-120597800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:120596800-120600200	Enhancers	NHLF	lung
44	chr8:120597200-120597600	Strong transcription	Fetal Thymus	thymus
45	chr8:120597200-120598000	Enhancers	Osteobl	bone
46	chr8:120597200-120598400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:120597400-120597800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr8:120597400-120598000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:120597400-120599000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:120597400-120599000	Weak transcription	Placenta	Placenta

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