Variant report

Variant	rs1864214
Chromosome Location	chr5:36628148-36628149
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36584778..36587591-chr5:36627984..36629667,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10941306	0.96[CEU][hapmap];0.95[CHB][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11954014	0.88[CEU][hapmap]
rs12659371	0.84[CEU][hapmap]
rs1862638	0.81[AFR][1000 genomes]
rs1864213	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2052885	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2115523	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3733810	0.81[YRI][hapmap]
rs4869486	0.84[CEU][hapmap]
rs4869677	0.84[CEU][hapmap]
rs6451304	0.83[ASW][hapmap];0.86[YRI][hapmap]
rs7730537	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1864214	NPR3	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36608800-36639600	Weak transcription	Esophagus	oesophagus
2	chr5:36610600-36629800	Weak transcription	NHDF-Ad	bronchial
3	chr5:36611000-36633600	Weak transcription	Brain Germinal Matrix	brain
4	chr5:36611200-36630000	Weak transcription	Right Ventricle	heart
5	chr5:36614000-36629600	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:36615000-36629600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:36615400-36630000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:36615400-36630200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:36615800-36629800	Weak transcription	Placenta	Placenta
10	chr5:36616800-36651200	Weak transcription	Psoas Muscle	Psoas
11	chr5:36618200-36629400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:36619200-36629800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:36619400-36629200	Weak transcription	Hela-S3	cervix
14	chr5:36619600-36629000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:36619600-36630000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:36619800-36629000	Weak transcription	HMEC	breast
17	chr5:36619800-36629800	Weak transcription	NHEK	skin
18	chr5:36620600-36630000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:36620600-36633600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:36620800-36629800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:36620800-36629800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:36620800-36638000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:36621600-36634600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:36622400-36629800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:36622800-36629600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:36624200-36630600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr5:36624400-36630000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr5:36624600-36630000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:36624600-36637800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:36624800-36629600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:36624800-36629600	Weak transcription	HSMM	muscle
32	chr5:36624800-36629800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:36624800-36629800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:36624800-36630000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:36624800-36630000	Weak transcription	Left Ventricle	heart
36	chr5:36625200-36629800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:36625200-36630200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:36625800-36628800	Enhancers	Brain Cingulate Gyrus	brain
39	chr5:36626400-36629600	Enhancers	Fetal Heart	heart
40	chr5:36626400-36629800	Weak transcription	Right Atrium	heart
41	chr5:36626600-36629600	Weak transcription	Brain Angular Gyrus	brain
42	chr5:36626600-36629800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr5:36626800-36629800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:36627000-36629600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:36627400-36633800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr5:36627600-36628600	Enhancers	Brain Substantia Nigra	brain
47	chr5:36627800-36628200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr5:36628000-36629200	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:36628000-36629400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:36628000-36629600	Weak transcription	Brain Anterior Caudate	brain

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