Variant report

Variant	rs8023495
Chromosome Location	chr15:75930757-75930758
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:115053681..115056589-chr15:75930626..75932185,2	MCF-7	breast:
2	chr15:75868548..75873773-chr15:75928671..75933652,6	K562	blood:
3	chr15:75917879..75918670-chr15:75930023..75930889,2	K562	blood:
4	chr15:75868548..75873380-chr15:75928279..75933652,7	K562	blood:
5	chr15:75742140..75749687-chr15:75929409..75934974,27	MCF-7	breast:
6	chr15:75741578..75748579-chr15:75928515..75935579,16	K562	blood:
7	chr15:75658624..75662706-chr15:75930016..75932707,8	MCF-7	breast:
8	chr15:75657323..75661859-chr15:75928778..75934895,5	K562	blood:
9	chr15:75930688..75932661-chr2:237415329..237417596,2	MCF-7	breast:
10	chr15:75869532..75872781-chr15:75929534..75934767,14	MCF-7	breast:
11	chr15:75657489..75661684-chr15:75927450..75931877,5	K562	blood:
12	chr15:75748588..75750460-chr15:75930709..75932431,2	MCF-7	breast:
13	chr15:75929555..75932491-chr15:75973247..75974868,2	MCF-7	breast:
14	chr15:75741052..75746522-chr15:75930202..75934500,7	MCF-7	breast:
15	chr15:75741578..75748624-chr15:75927989..75935113,20	K562	blood:
16	chr15:75870346..75872238-chr15:75930098..75932269,3	MCF-7	breast:
17	chr15:75930426..75930987-chr15:75975796..75976727,3	MCF-7	breast:
18	chr15:75916634..75921269-chr15:75928640..75933625,8	MCF-7	breast:
19	chr11:65189831..65190705-chr15:75930757..75931619,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000245532	Chromatin interaction
ENSG00000140400	Chromatin interaction
ENSG00000169375	Chromatin interaction
ENSG00000132321	Chromatin interaction
ENSG00000169371	Chromatin interaction
ENSG00000169410	Chromatin interaction
ENSG00000260235	Chromatin interaction
ENSG00000197323	Chromatin interaction
ENSG00000260274	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10163126	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11072552	0.91[ASN][1000 genomes]
rs11072553	0.89[ASN][1000 genomes]
rs11634402	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12101874	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12910672	0.86[ASN][1000 genomes]
rs12911229	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13737	0.90[ASN][1000 genomes]
rs4371118	0.87[ASN][1000 genomes]
rs4886450	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4886452	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4886718	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4886719	0.91[ASN][1000 genomes]
rs4886720	0.93[ASN][1000 genomes]
rs4886722	0.87[ASN][1000 genomes]
rs7166281	0.88[ASN][1000 genomes]
rs7170787	0.81[ASN][1000 genomes]
rs7175223	0.86[ASN][1000 genomes]
rs8026113	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8027318	0.81[AMR][1000 genomes]
rs8037089	0.87[ASN][1000 genomes]
rs8042772	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9920028	0.88[ASN][1000 genomes]
rs9944207	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS 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	161 gene(s)	inside rSNPs	diseases
6	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
7	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
8	esv1813854	chr15:75898640-76002392	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv527186	chr15:75924443-76107730	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
10	nsv904391	chr15:75930757-76001654	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv904392	chr15:75930757-76039262	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8023495	MAN2C1	cis	Whole Blood	GTEx
rs8023495	MAN2C1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75918600-75931000	Weak transcription	Aorta	Aorta
2	chr15:75920600-75930800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:75927600-75930800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:75929200-75931000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr15:75929400-75930800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:75929400-75930800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr15:75929400-75930800	Enhancers	Placenta	Placenta
8	chr15:75929400-75930800	Enhancers	Psoas Muscle	Psoas
9	chr15:75929400-75931000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:75929400-75931000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr15:75929600-75930800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr15:75929600-75930800	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr15:75929600-75930800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
14	chr15:75929600-75930800	Enhancers	Brain Cingulate Gyrus	brain
15	chr15:75929600-75930800	Enhancers	Esophagus	oesophagus
16	chr15:75929600-75930800	Enhancers	Fetal Kidney	kidney
17	chr15:75929600-75930800	Genic enhancers	Fetal Thymus	thymus
18	chr15:75929600-75930800	Enhancers	Stomach Mucosa	stomach
19	chr15:75929600-75931000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
20	chr15:75929600-75931000	Transcr. at gene 5' and 3'	K562	blood
21	chr15:75929600-75931200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr15:75929600-75931400	Enhancers	Small Intestine	intestine
23	chr15:75929600-75931800	Flanking Active TSS	Dnd41	blood
24	chr15:75929600-75931800	Flanking Active TSS	Hela-S3	cervix
25	chr15:75929800-75930800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:75929800-75930800	Enhancers	Thymus	Thymus
27	chr15:75929800-75931000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:75929800-75931000	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:75929800-75931000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr15:75929800-75931400	Enhancers	Fetal Heart	heart
31	chr15:75930000-75930800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:75930000-75930800	Enhancers	Primary hematopoietic stem cells	blood
33	chr15:75930000-75930800	Enhancers	Brain Substantia Nigra	brain
34	chr15:75930000-75930800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr15:75930000-75930800	Enhancers	Spleen	Spleen
36	chr15:75930000-75930800	Enhancers	NH-A	brain
37	chr15:75930000-75931000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
38	chr15:75930000-75931200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr15:75930000-75931800	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr15:75930000-75932200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr15:75930000-75933600	Active TSS	H9 Cell Line	embryonic stem cell
42	chr15:75930000-75933600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr15:75930000-75933600	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr15:75930200-75930800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr15:75930200-75930800	Enhancers	Fetal Lung	lung
46	chr15:75930200-75930800	Enhancers	Fetal Stomach	stomach
47	chr15:75930200-75930800	Flanking Active TSS	Osteobl	bone
48	chr15:75930200-75931000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr15:75930200-75931000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr15:75930200-75931000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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