Variant report

Variant	rs16903719
Chromosome Location	chr5:14863370-14863371
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14850589..14853387-chr5:14861534..14863865,2	MCF-7	breast:
2	chr5:14863140..14869148-chr5:14869858..14873392,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154122	Chromatin interaction
ENSG00000272057	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10513191	0.84[LWK][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs16903723	0.87[GIH][hapmap];1.00[MEX][hapmap];0.84[EUR][1000 genomes]
rs2250746	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58467857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59371539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2753381	chr5:14814900-14882800	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv2755533	chr5:14814900-14882800	Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv2755538	chr5:14814900-14927500	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16903719	MARCH11	cis	parietal	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14824800-14869600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:14830400-14866400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:14831000-14870400	Weak transcription	Spleen	Spleen
4	chr5:14835600-14869000	Weak transcription	NHDF-Ad	bronchial
5	chr5:14835800-14864200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr5:14837400-14869400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:14840200-14864600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:14844800-14869200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:14848800-14870000	Weak transcription	Thymus	Thymus
10	chr5:14849200-14869800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr5:14850800-14869000	Weak transcription	Brain Germinal Matrix	brain
12	chr5:14851600-14869800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:14853200-14869000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:14855400-14868800	Weak transcription	Hela-S3	cervix
15	chr5:14855400-14870000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr5:14855400-14870000	Weak transcription	Placenta	Placenta
17	chr5:14855600-14863600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:14855600-14863800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:14856600-14869000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr5:14857400-14869000	Weak transcription	Primary T cells from cord blood	blood
21	chr5:14859600-14864600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr5:14859800-14866200	Enhancers	Fetal Heart	heart
23	chr5:14860000-14863800	Enhancers	Right Ventricle	heart
24	chr5:14860200-14866000	Enhancers	Brain Substantia Nigra	brain
25	chr5:14860400-14864200	Weak transcription	Ovary	ovary
26	chr5:14860400-14868800	Weak transcription	Dnd41	blood
27	chr5:14860600-14863400	Enhancers	Fetal Intestine Small	intestine
28	chr5:14860800-14869200	Weak transcription	HMEC	breast
29	chr5:14860800-14869400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:14861000-14864600	Enhancers	Psoas Muscle	Psoas
31	chr5:14861200-14863600	Enhancers	Liver	Liver
32	chr5:14861200-14863600	Enhancers	Right Atrium	heart
33	chr5:14861200-14863800	Enhancers	Stomach Mucosa	stomach
34	chr5:14861200-14864000	Enhancers	HepG2	liver
35	chr5:14861200-14864600	Enhancers	Left Ventricle	heart
36	chr5:14861400-14865400	Enhancers	Brain Hippocampus Middle	brain
37	chr5:14861800-14864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:14861800-14864800	Enhancers	Brain Cingulate Gyrus	brain
39	chr5:14861800-14865800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr5:14861800-14869400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:14861800-14870400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:14862000-14864000	Enhancers	Duodenum Mucosa	Duodenum
43	chr5:14862000-14869200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:14862000-14869400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:14862200-14864000	Weak transcription	Aorta	Aorta
46	chr5:14862200-14868800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr5:14862400-14863800	Enhancers	Fetal Brain Female	brain
48	chr5:14862400-14865000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr5:14862400-14865200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr5:14862400-14866000	Enhancers	Skeletal Muscle Male	skeletal muscle

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