Variant report

Variant	rs59030659
Chromosome Location	chr13:111002180-111002181
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	chr13:111000060..111002459-chr13:111005280..111006914,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4771670	0.93[AMR][1000 genomes]
rs57274138	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58900271	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59530640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9588143	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9588144	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9588145	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	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
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1049454	chr13:110950768-111006547	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110972600-111007200	Weak transcription	Gastric	stomach
2	chr13:110980200-111002800	Weak transcription	Fetal Brain Male	brain
3	chr13:110993800-111007200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:110994000-111004400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr13:110994000-111019600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:110994400-111002800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:110994400-111007200	Weak transcription	Fetal Kidney	kidney
8	chr13:110995200-111005200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr13:110995200-111007000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:110995400-111004200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr13:110995600-111005800	Weak transcription	Fetal Lung	lung
12	chr13:110996000-111009800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr13:110997800-111002800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:110998000-111002200	Enhancers	Right Ventricle	heart
15	chr13:110998000-111002800	Enhancers	Fetal Heart	heart
16	chr13:110998600-111003000	Enhancers	Colon Smooth Muscle	Colon
17	chr13:110999000-111002200	Enhancers	Adipose Nuclei	Adipose
18	chr13:110999000-111002800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr13:110999200-111003600	Enhancers	Right Atrium	heart
20	chr13:110999800-111004400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr13:110999800-111005000	Weak transcription	Fetal Intestine Large	intestine
22	chr13:111000000-111009400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:111000000-111009800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr13:111000200-111005800	Weak transcription	Fetal Intestine Small	intestine
25	chr13:111000400-111002400	Enhancers	HSMMtube	muscle
26	chr13:111000400-111004000	Enhancers	Fetal Muscle Leg	muscle
27	chr13:111000400-111004600	Weak transcription	Aorta	Aorta
28	chr13:111000400-111005000	Weak transcription	Colonic Mucosa	Colon
29	chr13:111000400-111007200	Weak transcription	Pancreas	Pancrea
30	chr13:111000600-111002800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:111000600-111002800	Weak transcription	Ovary	ovary
32	chr13:111000600-111002800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr13:111000600-111004400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr13:111000600-111008600	Weak transcription	Esophagus	oesophagus
35	chr13:111000600-111013800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr13:111000800-111002800	Weak transcription	Placenta	Placenta
37	chr13:111000800-111002800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr13:111000800-111004000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr13:111000800-111004600	Enhancers	NHEK	skin
40	chr13:111000800-111005000	Enhancers	Stomach Smooth Muscle	stomach
41	chr13:111000800-111019800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr13:111001000-111003200	Enhancers	HMEC	breast
43	chr13:111001000-111005000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr13:111001000-111009800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr13:111001200-111002400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr13:111001200-111004400	Weak transcription	NHDF-Ad	bronchial
47	chr13:111001200-111009800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr13:111001400-111002200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:111001400-111002200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr13:111001400-111002400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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