Variant report

Variant	rs8001967
Chromosome Location	chr13:30699399-30699400
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	chr13:30698648..30700274-chr13:30705836..30708500,2	MCF-7	breast:
2	chr13:30697642..30699768-chr13:30715433..30718388,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1409506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2151207	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769029	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56244909	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61946863	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61946864	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61946866	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61946867	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7327965	0.94[CEU][hapmap]
rs8002607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9550527	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9550528	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9550530	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9551845	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9551847	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9551848	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9551849	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9551851	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9551852	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9551853	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9634323	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9634359	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8001967	UBL3	cis	parietal	SCAN
rs8001967	UBL3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30690200-30699800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:30691200-30699400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr13:30694400-30699600	Weak transcription	NH-A	brain
4	chr13:30694400-30699800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:30694400-30707000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:30694600-30699400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr13:30694600-30699400	Weak transcription	Osteobl	bone
8	chr13:30694600-30699600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:30694600-30699600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:30694600-30699600	Weak transcription	HSMM	muscle
11	chr13:30694600-30699600	Weak transcription	NHDF-Ad	bronchial
12	chr13:30694800-30699800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:30695000-30699400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr13:30695000-30701000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr13:30696000-30699600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:30696200-30699400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:30696400-30699400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:30696400-30699400	Weak transcription	HMEC	breast
19	chr13:30696400-30707000	Weak transcription	Thymus	Thymus
20	chr13:30696600-30702800	Weak transcription	Fetal Thymus	thymus
21	chr13:30696800-30699400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:30697400-30699600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:30697800-30702200	Enhancers	Colon Smooth Muscle	Colon
24	chr13:30697800-30702600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr13:30698000-30699600	Weak transcription	Esophagus	oesophagus
26	chr13:30698200-30701800	Enhancers	Stomach Smooth Muscle	stomach
27	chr13:30698200-30702400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:30698400-30701600	Enhancers	Rectal Smooth Muscle	rectum
29	chr13:30698400-30701800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr13:30698800-30699800	Enhancers	Brain Cingulate Gyrus	brain
31	chr13:30699000-30699800	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr13:30699200-30699800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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