Variant report

Variant	rs626680
Chromosome Location	chr13:110874522-110874523
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	chr13:110874131..110875670-chr13:111096283..111097578,7	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11841329	1.00[EUR][1000 genomes]
rs16975290	1.00[EUR][1000 genomes]
rs521699	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56294719	1.00[EUR][1000 genomes]
rs57652802	1.00[EUR][1000 genomes]
rs58702949	1.00[EUR][1000 genomes]
rs58824458	1.00[EUR][1000 genomes]
rs60015252	1.00[EUR][1000 genomes]
rs60279490	1.00[EUR][1000 genomes]
rs61661904	1.00[EUR][1000 genomes]
rs625000	0.87[AMR][1000 genomes]
rs645511	1.00[EUR][1000 genomes]
rs666338	1.00[EUR][1000 genomes]
rs7319834	1.00[EUR][1000 genomes]
rs7320392	1.00[EUR][1000 genomes]
rs7326006	1.00[EUR][1000 genomes]
rs7332823	1.00[EUR][1000 genomes]
rs7337040	1.00[EUR][1000 genomes]
rs73611449	1.00[EUR][1000 genomes]
rs73624503	1.00[EUR][1000 genomes]
rs73624510	1.00[EUR][1000 genomes]
rs73624516	1.00[EUR][1000 genomes]
rs73624520	1.00[EUR][1000 genomes]
rs73624531	1.00[EUR][1000 genomes]
rs7982267	1.00[EUR][1000 genomes]
rs7992629	1.00[EUR][1000 genomes]
rs8000352	1.00[EUR][1000 genomes]
rs9301428	1.00[EUR][1000 genomes]
rs9301430	1.00[EUR][1000 genomes]
rs9583454	1.00[EUR][1000 genomes]
rs9583455	1.00[EUR][1000 genomes]
rs9583456	1.00[EUR][1000 genomes]
rs9583457	1.00[EUR][1000 genomes]
rs9583462	1.00[EUR][1000 genomes]
rs9588085	1.00[EUR][1000 genomes]
rs9588086	1.00[EUR][1000 genomes]
rs9588087	1.00[EUR][1000 genomes]
rs9588099	1.00[EUR][1000 genomes]
rs9588106	1.00[EUR][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	nsv1052147	chr13:110765635-110917782	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1182	chr13:110829691-110875029	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110846400-110879800	Weak transcription	Pancreas	Pancrea
2	chr13:110853600-110879800	Weak transcription	Gastric	stomach
3	chr13:110866200-110882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:110866400-110885000	Weak transcription	Fetal Intestine Large	intestine
5	chr13:110868600-110881400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:110869000-110898800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:110869400-110883600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:110869800-110879800	Weak transcription	Psoas Muscle	Psoas
9	chr13:110869800-110883200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr13:110870200-110878200	Weak transcription	Fetal Kidney	kidney
11	chr13:110870200-110878400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:110870200-110881200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr13:110871200-110878200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr13:110871200-110883400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:110871400-110878200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr13:110871600-110878400	Weak transcription	Osteobl	bone
17	chr13:110871600-110879800	Weak transcription	Spleen	Spleen
18	chr13:110872800-110874600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:110873000-110874600	Enhancers	Fetal Lung	lung
20	chr13:110873000-110874800	Enhancers	Placenta	Placenta
21	chr13:110873200-110874800	Enhancers	Fetal Stomach	stomach
22	chr13:110873200-110876400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:110873400-110874600	Enhancers	Rectal Smooth Muscle	rectum
24	chr13:110873400-110874800	Enhancers	Adipose Nuclei	Adipose
25	chr13:110873400-110878000	Weak transcription	HSMM	muscle
26	chr13:110873600-110878000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:110873800-110874800	Enhancers	NHLF	lung
28	chr13:110874000-110874600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:110874000-110874600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr13:110874000-110874600	Flanking Active TSS	NHEK	skin
31	chr13:110874000-110874800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:110874000-110874800	Enhancers	Ovary	ovary
33	chr13:110874200-110874600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr13:110874200-110874600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr13:110874200-110874600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr13:110874200-110874600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr13:110874200-110874600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr13:110874200-110874600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:110874200-110874600	Enhancers	Brain Hippocampus Middle	brain
40	chr13:110874200-110874600	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr13:110874200-110874600	Enhancers	Esophagus	oesophagus
42	chr13:110874200-110874600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr13:110874200-110874600	Flanking Active TSS	Fetal Heart	heart
44	chr13:110874200-110874600	Enhancers	Lung	lung
45	chr13:110874200-110874600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr13:110874200-110874600	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr13:110874200-110874600	Enhancers	HMEC	breast
48	chr13:110874200-110874600	Enhancers	HUVEC	blood vessel
49	chr13:110874200-110874600	Enhancers	NH-A	brain
50	chr13:110874200-110874600	Enhancers	NHDF-Ad	bronchial

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