Variant report

Variant	rs13737
Chromosome Location	chr15:75932129-75932130
allele	A/C
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:115053681..115056589-chr15:75930626..75932185,2	MCF-7	breast:
2	chr15:75931969..75932927-chr19:49375340..49376336,2	Hela-S3	cervix:
3	chr15:75868548..75873773-chr15:75928671..75933652,6	K562	blood:
4	chr15:75932109..75932896-chr9:19379819..19380465,2	NB4	blood:
5	chr15:75868548..75873380-chr15:75928279..75933652,7	K562	blood:
6	chr15:75742140..75749687-chr15:75929409..75934974,27	MCF-7	breast:
7	chr15:75741578..75748579-chr15:75928515..75935579,16	K562	blood:
8	chr15:75658624..75662706-chr15:75930016..75932707,8	MCF-7	breast:
9	chr15:75657323..75661859-chr15:75928778..75934895,5	K562	blood:
10	chr15:75930688..75932661-chr2:237415329..237417596,2	MCF-7	breast:
11	chr14:92572049..92573011-chr15:75931948..75932698,2	Hela-S3	cervix:
12	chr15:75931960..75934199-chr16:69758900..69760428,2	K562	blood:
13	chr15:75869532..75872781-chr15:75929534..75934767,14	MCF-7	breast:
14	chr15:75748588..75750460-chr15:75930709..75932431,2	MCF-7	breast:
15	chr1:156720569..156721346-chr15:75931842..75932671,2	Hela-S3	cervix:
16	chr15:75929555..75932491-chr15:75973247..75974868,2	MCF-7	breast:
17	chr15:75931027..75932851-chr15:75970430..75972051,3	MCF-7	breast:
18	chr15:75932087..75933077-chr20:43991605..43992379,2	Hela-S3	cervix:
19	chr15:75741052..75746522-chr15:75930202..75934500,7	MCF-7	breast:
20	chr15:75741578..75748624-chr15:75927989..75935113,20	K562	blood:
21	chr15:75931969..75932587-chr19:4399814..4400720,2	Hela-S3	cervix:
22	chr15:75908924..75911248-chr15:75931260..75932987,2	MCF-7	breast:
23	chr15:75931499..75932233-chr6:26157542..26158474,2	Hela-S3	cervix:
24	chr15:75658930..75662576-chr15:75931399..75933599,5	MCF-7	breast:
25	chr1:45187300..45187927-chr15:75932059..75932610,2	NB4	blood:
26	chr15:75870346..75872238-chr15:75930098..75932269,3	MCF-7	breast:
27	chr15:75916258..75921824-chr15:75930808..75933710,8	MCF-7	breast:
28	chr15:75812709..75814869-chr15:75930872..75932533,2	MCF-7	breast:
29	chr15:75916634..75921269-chr15:75928640..75933625,8	MCF-7	breast:
30	chr15:75931823..75932483-chr7:4681484..4682453,2	Hela-S3	cervix:
31	chr15:75660467..75661982-chr15:75931951..75934210,2	K562	blood:
32	chr15:75907811..75910485-chr15:75930926..75933697,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169375	Chromatin interaction
ENSG00000132321	Chromatin interaction
ENSG00000087074	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000181019	Chromatin interaction
ENSG00000141985	Chromatin interaction
ENSG00000260274	Chromatin interaction
ENSG00000204070	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000137154	Chromatin interaction
ENSG00000197323	Chromatin interaction
ENSG00000169371	Chromatin interaction
ENSG00000254806	Chromatin interaction
ENSG00000203392	Chromatin interaction
ENSG00000260235	Chromatin interaction
ENSG00000169410	Chromatin interaction
ENSG00000143321	Chromatin interaction
ENSG00000066427	Chromatin interaction
ENSG00000140400	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10163126	0.84[ASN][1000 genomes]
rs11072552	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11072553	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11634402	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11636031	0.88[CEU][hapmap]
rs11636199	0.88[CEU][hapmap]
rs11638974	0.88[CEU][hapmap]
rs11856606	0.95[JPT][hapmap]
rs12101874	0.90[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12708519	0.88[CEU][hapmap]
rs12708520	0.89[CEU][hapmap]
rs12910672	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12911229	0.84[ASN][1000 genomes]
rs13380103	0.89[CEU][hapmap]
rs28610581	0.88[CEU][hapmap]
rs28693593	0.88[CEU][hapmap]
rs4075522	0.88[CEU][hapmap]
rs4299117	0.88[CEU][hapmap]
rs4371118	0.88[ASN][1000 genomes]
rs4451914	0.88[CEU][hapmap]
rs4545784	0.89[CEU][hapmap]
rs4886443	0.88[CEU][hapmap]
rs4886446	0.89[CEU][hapmap]
rs4886450	0.83[ASN][1000 genomes]
rs4886707	0.88[CEU][hapmap]
rs4886708	0.81[CEU][hapmap]
rs4886716	0.89[CEU][hapmap]
rs4886718	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4886719	0.83[ASN][1000 genomes]
rs4886720	0.85[ASN][1000 genomes]
rs4886722	0.88[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6495182	0.88[CEU][hapmap]
rs7163907	0.88[CEU][hapmap]
rs7166281	0.94[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7170787	0.84[ASN][1000 genomes]
rs7175223	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7184046	0.89[CEU][hapmap]
rs8023268	0.89[CEU][hapmap]
rs8023495	0.90[ASN][1000 genomes]
rs8023815	0.88[CEU][hapmap]
rs8026113	0.88[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8029112	0.88[CEU][hapmap]
rs8030802	0.88[CEU][hapmap]
rs8034317	0.88[CEU][hapmap]
rs8037089	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8038760	0.88[CEU][hapmap]
rs8042772	0.85[ASN][1000 genomes]
rs9920028	0.94[ASW][hapmap];0.88[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.94[MKK][hapmap];0.81[TSI][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9920034	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9944207	0.89[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[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:15)

SNP	Gene	Cis/trans	Tissue	Source
rs13737	MAN2C1	cis	Whole Blood	GTEx
rs13737	MAN2C1	cis	Nerve Tibial	GTEx
rs13737	ENSG00000177971	cis	multi-tissue	Pritchard
rs13737	MAN2C1	cis	Stomach	GTEx
rs13737	MAN2C1	cis	Esophagus Muscularis	GTEx
rs13737	MAN2C1	cis	Skin Sun Exposed Lower leg	GTEx
rs13737	MAN2C1	cis	Artery Aorta	GTEx
rs13737	MAN2C1	cis	Heart Left Ventricle	GTEx
rs13737	SNUPN	Cis_1M	lymphoblastoid	RTeQTL
rs13737	IMP3	cis	multi-tissue	Pritchard
rs13737	MAN2C1	cis	Adipose Subcutaneous	GTEx
rs13737	MAN2C1	cis	Thyroid	GTEx
rs13737	MAN2C1	cis	lung	GTEx
rs13737	MAN2C1	cis	Esophagus Mucosa	GTEx
rs13737	MAN2C1	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75930000-75932200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr15:75930000-75933600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr15:75930000-75933600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:75930000-75933600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr15:75930200-75932400	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr15:75930200-75933600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr15:75930200-75933600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:75930400-75932200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:75930400-75932200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr15:75930400-75932400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr15:75930400-75933400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr15:75930600-75932200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr15:75930600-75932200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:75930600-75932200	Flanking Active TSS	Fetal Brain Male	brain
15	chr15:75930600-75932200	Flanking Active TSS	HUVEC	blood vessel
16	chr15:75930600-75933000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:75930600-75933000	Active TSS	HMEC	breast
18	chr15:75930600-75933000	Active TSS	NHLF	lung
19	chr15:75930600-75933200	Active TSS	Ovary	ovary
20	chr15:75930600-75933200	Active TSS	Pancreas	Pancrea
21	chr15:75930600-75933200	Active TSS	Right Ventricle	heart
22	chr15:75930600-75933200	Active TSS	HSMM	muscle
23	chr15:75930600-75933200	Active TSS	NHDF-Ad	bronchial
24	chr15:75930600-75933600	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr15:75930600-75933600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:75930600-75933600	Active TSS	GM12878-XiMat	blood
27	chr15:75930600-75933800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:75930800-75932200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr15:75930800-75932200	Flanking Active TSS	Placenta	Placenta
30	chr15:75930800-75932400	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr15:75930800-75933200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:75930800-75933200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:75930800-75933400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr15:75930800-75933400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr15:75930800-75933600	Active TSS	H1 Cell Line	embryonic stem cell
36	chr15:75931000-75932200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:75931000-75932400	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr15:75931000-75932600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
39	chr15:75931000-75933000	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr15:75931000-75933200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr15:75931000-75933200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:75931000-75933200	Active TSS	Aorta	Aorta
43	chr15:75931000-75933200	Active TSS	Esophagus	oesophagus
44	chr15:75931000-75933200	Active TSS	Fetal Kidney	kidney
45	chr15:75931000-75933200	Active TSS	Gastric	stomach
46	chr15:75931000-75933200	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr15:75931000-75933400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:75931000-75933600	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr15:75931000-75933600	Active TSS	Fetal Intestine Large	intestine
50	chr15:75931000-75933600	Active TSS	K562	blood

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