Variant report

Variant	rs1807815
Chromosome Location	chr6:150118066-150118067
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:150067696..150070482-chr6:150117638..150119336,2	K562	blood:
2	chr6:150116018..150118922-chr6:150120645..150124683,3	K562	blood:
3	chr6:150069972..150072484-chr6:150117277..150119937,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRP11-1	chr6:150117711-150118575	ENSG00000231760.2

Variant related genes	Relation type
ENSG00000120265	Chromatin interaction
ENSG00000120253	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs3805748	0.81[ASN][1000 genomes]
rs4642491	0.80[ASN][1000 genomes]
rs9322221	0.88[ASN][1000 genomes]
rs9505975	0.85[ASN][1000 genomes]
rs9688902	0.90[ASN][1000 genomes]
rs9689025	0.91[ASN][1000 genomes]
rs9765965	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886762	chr6:149866452-150174507	Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv1803291	chr6:150018508-150164190	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv886763	chr6:150091219-150174507	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv1819303	chr6:150093678-150132092	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1807815	RP11-350J20.5	cis	Skin Sun Exposed Lower leg	GTEx
rs1807815	NUP43	Cis_1M	lymphoblastoid	RTeQTL
rs1807815	RP11-350J20.5	cis	Thyroid	GTEx
rs1807815	C6orf72	Cis_1M	lymphoblastoid	RTeQTL
rs1807815	RP11-350J20.5	cis	Nerve Tibial	GTEx
rs1807815	RP11-350J20.5	cis	Adipose Subcutaneous	GTEx
rs1807815	RP11-350J20.5	cis	Esophagus Mucosa	GTEx
rs1807815	RP11-350J20.5	cis	Artery Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150072000-150152000	Weak transcription	Aorta	Aorta
2	chr6:150073800-150182400	Weak transcription	Fetal Brain Male	brain
3	chr6:150077200-150118400	Weak transcription	Pancreas	Pancrea
4	chr6:150077400-150142400	Weak transcription	Fetal Heart	heart
5	chr6:150077800-150118400	Weak transcription	Psoas Muscle	Psoas
6	chr6:150087200-150154000	Weak transcription	Small Intestine	intestine
7	chr6:150087400-150134000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:150088000-150123400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr6:150088000-150160400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:150093400-150133400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:150093600-150135200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:150094400-150167200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:150098000-150123400	Weak transcription	HSMMtube	muscle
14	chr6:150098000-150144000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:150098600-150118200	Weak transcription	Brain Angular Gyrus	brain
16	chr6:150101400-150123400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:150105200-150133600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:150105800-150176400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:150110000-150125000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:150110000-150126800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:150110200-150127800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:150110800-150120600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:150110800-150125200	Strong transcription	Dnd41	blood
24	chr6:150110800-150126400	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr6:150110800-150129400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr6:150111000-150120200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:150111000-150121200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr6:150111000-150121400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:150111000-150125200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:150111000-150126200	Strong transcription	HepG2	liver
31	chr6:150111000-150126400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:150111000-150128200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr6:150111000-150128200	Strong transcription	Fetal Thymus	thymus
34	chr6:150111000-150128400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:150111000-150129200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:150111000-150129200	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr6:150111200-150123800	Weak transcription	Stomach Mucosa	stomach
38	chr6:150111200-150125400	Strong transcription	Liver	Liver
39	chr6:150111200-150125800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:150111400-150126400	Strong transcription	Fetal Muscle Leg	muscle
41	chr6:150111800-150124400	Weak transcription	Right Atrium	heart
42	chr6:150112400-150118400	Weak transcription	Lung	lung
43	chr6:150112600-150167200	Weak transcription	Colon Smooth Muscle	Colon
44	chr6:150112800-150118400	Weak transcription	Brain Hippocampus Middle	brain
45	chr6:150112800-150118400	Weak transcription	Colonic Mucosa	Colon
46	chr6:150112800-150118600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr6:150113000-150119400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:150113400-150118600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:150113400-150126400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr6:150113600-150125000	Strong transcription	K562	blood

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