Variant report

Variant	rs17057848
Chromosome Location	chr13:38924643-38924644
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:38921186..38924004-chr13:38924043..38925621,2	MCF-7	breast:
2	chr13:38924316..38926531-chr13:38938318..38940718,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120686	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1011484	1.00[ASN][1000 genomes]
rs10507469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10507470	1.00[ASN][1000 genomes]
rs1590952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057710	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2019516	1.00[ASN][1000 genomes]
rs2173948	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455408	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455413	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481887	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481888	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481892	1.00[ASN][1000 genomes]
rs2485779	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2496468	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56306542	1.00[ASN][1000 genomes]
rs7322186	1.00[ASN][1000 genomes]
rs73460283	1.00[ASN][1000 genomes]
rs74047550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74047551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74047552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74047553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74047554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9532217	1.00[ASN][1000 genomes]
rs9548328	1.00[ASN][1000 genomes]
rs9888482	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv869125	chr13:38550449-39132813	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949406	chr13:38561474-39033484	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv561512	chr13:38881318-38930893	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv900005	chr13:38881318-38932949	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38922400-38925200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr13:38922600-38924800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr13:38922600-38925000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr13:38922600-38925000	Active TSS	K562	blood
5	chr13:38922600-38925200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:38922600-38925200	Active TSS	HSMMtube	muscle
7	chr13:38922600-38926000	Active TSS	Right Atrium	heart
8	chr13:38922800-38924800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr13:38922800-38924800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:38922800-38924800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:38922800-38924800	Active TSS	Muscle Satellite Cultured Cells	--
12	chr13:38922800-38924800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:38922800-38924800	Active TSS	Fetal Kidney	kidney
14	chr13:38922800-38924800	Active TSS	Fetal Stomach	stomach
15	chr13:38922800-38925000	Active TSS	H1 Cell Line	embryonic stem cell
16	chr13:38922800-38925000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:38922800-38925000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:38922800-38925000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:38922800-38925000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:38922800-38925000	Active TSS	Aorta	Aorta
21	chr13:38922800-38925000	Active TSS	Fetal Intestine Large	intestine
22	chr13:38922800-38925000	Active TSS	GM12878-XiMat	blood
23	chr13:38922800-38925200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr13:38922800-38925200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:38922800-38925200	Active TSS	NHLF	lung
26	chr13:38922800-38926200	Active TSS	Right Ventricle	heart
27	chr13:38923000-38924800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr13:38923000-38924800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:38923000-38924800	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr13:38923000-38924800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr13:38923000-38924800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:38923000-38924800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr13:38923000-38924800	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr13:38923000-38924800	Active TSS	Esophagus	oesophagus
35	chr13:38923000-38924800	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr13:38923000-38924800	Active TSS	Small Intestine	intestine
37	chr13:38923000-38924800	Active TSS	Stomach Mucosa	stomach
38	chr13:38923000-38924800	Active TSS	HMEC	breast
39	chr13:38923000-38925000	Active TSS	H9 Cell Line	embryonic stem cell
40	chr13:38923000-38925000	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr13:38923000-38925000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:38923000-38925000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:38923000-38925000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr13:38923000-38925000	Active TSS	Fetal Muscle Leg	muscle
45	chr13:38923000-38925000	Active TSS	Placenta	Placenta
46	chr13:38923000-38925000	Active TSS	Fetal Thymus	thymus
47	chr13:38923000-38925000	Active TSS	NHDF-Ad	bronchial
48	chr13:38923000-38925200	Active TSS	Colonic Mucosa	Colon
49	chr13:38923000-38925200	Active TSS	Fetal Muscle Trunk	muscle
50	chr13:38923000-38925200	Active TSS	Ovary	ovary

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