Variant report

Variant	rs4416746
Chromosome Location	chr7:140015104-140015105
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140004434..140006473-chr7:140014636..140016485,2	MCF-7	breast:
2	chr7:140014544..140017368-chr7:140028842..140031384,2	MCF-7	breast:
3	chr7:139873831..139877475-chr7:140012242..140019161,9	MCF-7	breast:
4	chr7:140014746..140017090-chr7:140018395..140020879,3	K562	blood:
5	chr7:140003129..140009929-chr7:140011645..140017997,10	MCF-7	breast:
6	chr7:139874735..139878684-chr7:140013731..140018103,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006459	Chromatin interaction
ENSG00000260231	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10952637	1.00[MEX][hapmap]
rs11764865	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.81[MKK][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11975841	1.00[CHB][hapmap]
rs3936105	0.82[JPT][hapmap]
rs4349904	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4361695	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4433051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4448186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4495337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4523161	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4725675	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.90[ASN][1000 genomes]
rs4726768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889247	chr7:139855216-140033631	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1026255	chr7:139944473-140043299	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4416746	UBN2	cis	cerebellum	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140004600-140015400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:140006000-140015400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:140011600-140015600	Weak transcription	NHDF-Ad	bronchial
4	chr7:140011600-140016400	Enhancers	Primary B cells from cord blood	blood
5	chr7:140013200-140015600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:140013200-140017800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:140013600-140018600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr7:140013800-140015400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:140013800-140015600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr7:140013800-140016800	Enhancers	Liver	Liver
11	chr7:140014000-140015800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:140014000-140016000	Flanking Active TSS	HepG2	liver
13	chr7:140014400-140015200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:140014400-140015400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr7:140014400-140015600	Enhancers	A549	lung
16	chr7:140014400-140015800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:140014400-140015800	Enhancers	Lung	lung
18	chr7:140014400-140016000	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr7:140014600-140015400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:140014600-140015600	Enhancers	Duodenum Mucosa	Duodenum
21	chr7:140014600-140015800	Enhancers	Brain Angular Gyrus	brain
22	chr7:140014600-140016400	Flanking Active TSS	HMEC	breast
23	chr7:140014600-140016600	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr7:140014600-140016800	Enhancers	Fetal Stomach	stomach
25	chr7:140014600-140017000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:140014800-140015200	Enhancers	Colonic Mucosa	Colon
27	chr7:140014800-140015200	Flanking Active TSS	Fetal Lung	lung
28	chr7:140014800-140015400	Active TSS	Ovary	ovary
29	chr7:140014800-140015400	Enhancers	Stomach Mucosa	stomach
30	chr7:140014800-140015600	Enhancers	Adipose Nuclei	Adipose
31	chr7:140014800-140015800	Enhancers	Osteobl	bone
32	chr7:140014800-140016600	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr7:140014800-140017200	Enhancers	Fetal Brain Male	brain
34	chr7:140015000-140015200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:140015000-140015200	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr7:140015000-140015200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr7:140015000-140015200	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr7:140015000-140015200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr7:140015000-140015200	Flanking Active TSS	NHLF	lung
40	chr7:140015000-140015400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:140015000-140015400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr7:140015000-140015400	Enhancers	Right Atrium	heart
43	chr7:140015000-140015600	Enhancers	Brain Substantia Nigra	brain
44	chr7:140015000-140015800	Enhancers	Esophagus	oesophagus
45	chr7:140015000-140015800	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr7:140015000-140016000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:140015000-140016000	Enhancers	Gastric	stomach
48	chr7:140015000-140016200	Enhancers	Spleen	Spleen
49	chr7:140015000-140016400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr7:140015000-140016400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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