Variant report

Variant	rs4886719
Chromosome Location	chr15:75916931-75916932
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75659095..75662742-chr15:75916445..75919940,7	K562	blood:
2	chr15:75916258..75921824-chr15:75930808..75933710,8	MCF-7	breast:
3	chr15:75743503..75749103-chr15:75916446..75919686,11	K562	blood:
4	chr15:75916634..75921269-chr15:75928640..75933625,8	MCF-7	breast:
5	chr15:75916178..75919035-chr15:75939504..75941880,2	MCF-7	breast:
6	chr15:75745526..75749103-chr15:75915153..75919928,6	K562	blood:

Variant related genes	Relation type
ENSG00000260274	Chromatin interaction
ENSG00000177971	Chromatin interaction
ENSG00000169375	Chromatin interaction
ENSG00000140400	Chromatin interaction
ENSG00000173548	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10163126	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11072552	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072553	0.84[ASN][1000 genomes]
rs11634402	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12101874	0.90[ASN][1000 genomes]
rs12910672	0.91[ASN][1000 genomes]
rs12911229	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13737	0.83[ASN][1000 genomes]
rs28376842	0.81[EUR][1000 genomes]
rs4371118	0.90[ASN][1000 genomes]
rs4886450	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4886718	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4886720	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4886722	0.90[ASN][1000 genomes]
rs7166281	0.86[ASN][1000 genomes]
rs7170787	0.86[ASN][1000 genomes]
rs7175223	0.89[ASN][1000 genomes]
rs8023495	0.91[ASN][1000 genomes]
rs8026113	0.89[ASN][1000 genomes]
rs8037089	0.90[ASN][1000 genomes]
rs8042772	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9920028	0.90[ASN][1000 genomes]
rs9944207	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv531902	chr15:75724505-75919237	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	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
9	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4886719	MAN2C1	cis	Nerve Tibial	GTEx
rs4886719	MAN2C1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75889400-75917600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:75889800-75917600	Weak transcription	Fetal Heart	heart
3	chr15:75890600-75917000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:75891000-75917200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:75903000-75917600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:75909400-75917200	Weak transcription	Psoas Muscle	Psoas
7	chr15:75909600-75917000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr15:75909600-75917200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr15:75909600-75917200	Weak transcription	HepG2	liver
10	chr15:75909600-75917400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:75909800-75917000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr15:75909800-75917200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr15:75909800-75917200	Weak transcription	Pancreas	Pancrea
14	chr15:75910000-75917400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:75910200-75917600	Weak transcription	Gastric	stomach
16	chr15:75911400-75917000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr15:75911800-75917000	Weak transcription	Right Ventricle	heart
18	chr15:75911800-75917600	Weak transcription	Fetal Brain Male	brain
19	chr15:75912000-75917600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr15:75912200-75917000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr15:75912600-75917000	Weak transcription	Colonic Mucosa	Colon
22	chr15:75912600-75917200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr15:75912800-75917000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:75913000-75917000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:75913000-75917000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr15:75913000-75917000	Weak transcription	K562	blood
27	chr15:75913000-75917200	Weak transcription	Lung	lung
28	chr15:75913200-75917000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr15:75913200-75917000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr15:75913200-75917200	Weak transcription	Liver	Liver
31	chr15:75913200-75917600	Weak transcription	Brain Substantia Nigra	brain
32	chr15:75913400-75917000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr15:75913400-75917000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:75913400-75917000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr15:75913400-75917000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:75913400-75917000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:75913400-75917000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr15:75913400-75917000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr15:75913400-75917000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr15:75913400-75917000	Weak transcription	Brain Angular Gyrus	brain
41	chr15:75913400-75917000	Weak transcription	Brain Hippocampus Middle	brain
42	chr15:75913400-75917000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:75913400-75917000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr15:75913400-75917000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr15:75913400-75917000	Weak transcription	Fetal Brain Female	brain
46	chr15:75913400-75917000	Weak transcription	Fetal Intestine Small	intestine
47	chr15:75913400-75917000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr15:75913400-75917200	Weak transcription	Brain Germinal Matrix	brain
49	chr15:75913400-75917200	Weak transcription	Fetal Intestine Large	intestine
50	chr15:75913400-75917400	Weak transcription	Left Ventricle	heart

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