Variant report

Variant	rs34234047
Chromosome Location	chr15:75631587-75631588
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75630334..75631987-chr15:75656015..75658534,2	MCF-7	breast:
2	chr15:75630795..75633486-chr15:75658867..75660629,2	K562	blood:
3	chr15:75628015..75635137-chr15:75659177..75662618,8	MCF-7	breast:
4	chr15:75630305..75632330-chr15:75638172..75640070,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140400	Chromatin interaction
ENSG00000140398	Chromatin interaction
ENSG00000260274	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12591076	0.81[ASN][1000 genomes]
rs12591309	0.87[ASN][1000 genomes]
rs12593870	0.87[ASN][1000 genomes]
rs12594671	0.89[ASN][1000 genomes]
rs4886434	0.84[ASN][1000 genomes]
rs4886435	0.87[ASN][1000 genomes]
rs4886445	0.81[ASN][1000 genomes]
rs4886685	0.84[ASN][1000 genomes]
rs4886686	0.82[ASN][1000 genomes]
rs4886689	0.87[ASN][1000 genomes]
rs4886697	0.87[ASN][1000 genomes]
rs4886701	0.84[ASN][1000 genomes]
rs8032031	0.86[ASN][1000 genomes]
rs8035796	0.86[ASN][1000 genomes]
rs9788768	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv482859	chr15:75493899-75688451	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv1035829	chr15:75504534-75692417	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv977736	chr15:75509295-75632679	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
7	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs34234047	MIR631	cis	Skin Sun Exposed Lower leg	GTEx
rs34234047	MIR631	cis	Nerve Tibial	GTEx
rs34234047	MIR631	cis	Artery Aorta	GTEx
rs34234047	MIR631	cis	Heart Left Ventricle	GTEx
rs34234047	MIR631	cis	Esophagus Muscularis	GTEx
rs34234047	MIR631	cis	Esophagus Mucosa	GTEx
rs34234047	MIR631	cis	Stomach	GTEx
rs34234047	MIR631	cis	lung	GTEx
rs34234047	MIR631	cis	Muscle Skeletal	GTEx
rs34234047	MIR631	cis	Adipose Subcutaneous	GTEx
rs34234047	MIR631	cis	Artery Tibial	GTEx
rs34234047	MIR631	cis	Whole Blood	GTEx
rs34234047	MIR631	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75629200-75631600	Weak transcription	Ovary	ovary
2	chr15:75629200-75636200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr15:75629200-75638800	Weak transcription	Primary B cells from cord blood	blood
4	chr15:75629200-75639000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:75629200-75639000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:75629200-75639000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr15:75629200-75639200	Weak transcription	Aorta	Aorta
8	chr15:75629200-75639200	Weak transcription	Small Intestine	intestine
9	chr15:75629400-75631600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr15:75629400-75631600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr15:75629400-75631600	Weak transcription	HSMMtube	muscle
12	chr15:75629400-75631800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:75629400-75631800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr15:75629400-75631800	Weak transcription	Brain Substantia Nigra	brain
15	chr15:75629400-75631800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr15:75629400-75631800	Weak transcription	HMEC	breast
17	chr15:75629400-75632000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:75629400-75632000	Weak transcription	Primary T cells from cord blood	blood
19	chr15:75629400-75632000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr15:75629400-75632200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr15:75629400-75632400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr15:75629400-75634800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr15:75629400-75635000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr15:75629400-75636200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr15:75629400-75637600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:75629400-75638400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr15:75629400-75638800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr15:75629400-75639000	Weak transcription	Brain Angular Gyrus	brain
29	chr15:75629400-75639000	Weak transcription	Colonic Mucosa	Colon
30	chr15:75629400-75639000	Weak transcription	Colon Smooth Muscle	Colon
31	chr15:75629400-75639000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr15:75629400-75639200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr15:75629400-75639200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr15:75629400-75639200	Weak transcription	NH-A	brain
35	chr15:75629400-75639400	Weak transcription	HSMM	muscle
36	chr15:75629400-75639400	Weak transcription	NHDF-Ad	bronchial
37	chr15:75629600-75631600	Weak transcription	Liver	Liver
38	chr15:75629600-75631600	Weak transcription	A549	lung
39	chr15:75629600-75632000	Weak transcription	Left Ventricle	heart
40	chr15:75629600-75632200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr15:75629600-75633400	Weak transcription	K562	blood
42	chr15:75629600-75638600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr15:75629600-75639000	Weak transcription	GM12878-XiMat	blood
44	chr15:75629600-75639000	Weak transcription	HepG2	liver
45	chr15:75629600-75639000	Weak transcription	HUVEC	blood vessel
46	chr15:75629600-75639600	Weak transcription	Hela-S3	cervix
47	chr15:75630200-75632400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr15:75630200-75633600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:75630200-75633800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr15:75630200-75635000	Strong transcription	Fetal Stomach	stomach

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