Variant report

Variant	rs7633045
Chromosome Location	chr3:134096556-134096557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:134091805..134100491-chr3:134198620..134206897,15	MCF-7	breast:
2	chr3:134024307..134037207-chr3:134080573..134100993,88	MCF-7	breast:
3	chr3:134095549..134098242-chr3:134203117..134205804,2	MCF-7	breast:
4	chr15:96867915..96869419-chr3:134095838..134097824,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129055	Chromatin interaction
ENSG00000240006	Chromatin interaction
ENSG00000185551	Chromatin interaction
ENSG00000182923	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2400273	0.83[EUR][1000 genomes]
rs35304308	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9847940	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9864334	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[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	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7633045	RP11-375I20.6	cis	Skin Sun Exposed Lower leg	GTEx
rs7633045	RP11-375I20.6	cis	Thyroid	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134094000-134098000	Enhancers	Lung	lung
2	chr3:134094200-134098000	Enhancers	Esophagus	oesophagus
3	chr3:134094400-134096600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:134094400-134097000	Weak transcription	Brain Anterior Caudate	brain
5	chr3:134094400-134097200	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:134094400-134098000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:134094400-134098200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:134094400-134101400	Weak transcription	Aorta	Aorta
9	chr3:134094600-134096600	Weak transcription	Right Ventricle	heart
10	chr3:134094600-134096800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:134094600-134096800	Weak transcription	Brain Angular Gyrus	brain
12	chr3:134094600-134096800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:134094600-134097000	Weak transcription	Psoas Muscle	Psoas
14	chr3:134094600-134097000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:134094600-134097200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:134094600-134097200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:134094600-134097200	Weak transcription	Right Atrium	heart
18	chr3:134094600-134097400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr3:134094600-134097400	Enhancers	Fetal Intestine Large	intestine
20	chr3:134094600-134097400	Enhancers	Fetal Intestine Small	intestine
21	chr3:134094600-134098200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr3:134094600-134098200	Enhancers	NHEK	skin
23	chr3:134094600-134100200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:134094800-134096600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:134094800-134096800	Weak transcription	Brain Hippocampus Middle	brain
26	chr3:134094800-134096800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:134094800-134097000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr3:134094800-134097400	Enhancers	Duodenum Mucosa	Duodenum
29	chr3:134094800-134097400	Enhancers	Hela-S3	cervix
30	chr3:134094800-134101200	Weak transcription	Gastric	stomach
31	chr3:134095000-134096600	Bivalent Enhancer	HepG2	liver
32	chr3:134095000-134096800	Weak transcription	Fetal Heart	heart
33	chr3:134095000-134096800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:134095000-134098000	Enhancers	A549	lung
35	chr3:134095200-134097400	Enhancers	Liver	Liver
36	chr3:134095400-134097400	Enhancers	Placenta	Placenta
37	chr3:134095600-134097000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:134095600-134100200	Weak transcription	Small Intestine	intestine
39	chr3:134095600-134100400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr3:134095800-134097800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:134096000-134097200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:134096000-134097400	Enhancers	HUVEC	blood vessel
43	chr3:134096000-134100200	Weak transcription	Pancreas	Pancrea
44	chr3:134096000-134100200	Weak transcription	Stomach Mucosa	stomach
45	chr3:134096000-134100400	Weak transcription	Colonic Mucosa	Colon
46	chr3:134096000-134102800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr3:134096200-134096600	Weak transcription	HMEC	breast
48	chr3:134096200-134097600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr3:134096200-134098000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:134096200-134100200	Weak transcription	Placenta Amnion	Placenta Amnion

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