Variant report

Variant	rs73621183
Chromosome Location	chr13:111535829-111535830
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111530272..111532979-chr13:111535559..111538480,3	MCF-7	breast:
2	chr13:111534449..111537394-chr13:111566605..111568510,2	K562	blood:
3	chr13:111367065..111368685-chr13:111535768..111538167,2	MCF-7	breast:
4	chr13:111535697..111538149-chr13:111543741..111546006,2	K562	blood:

Variant related genes	Relation type
ENSG00000153487	Chromatin interaction
ENSG00000088448	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11841264	0.87[AFR][1000 genomes]
rs73621198	1.00[AFR][1000 genomes]
rs73623064	0.87[AFR][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	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
2	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
3	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
4	nsv1050379	chr13:111516429-111701302	Genic enhancers Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv541927	chr13:111516429-111701302	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111523400-111538000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:111527000-111538200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:111527000-111545200	Weak transcription	Esophagus	oesophagus
4	chr13:111527200-111561800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:111527400-111544600	Weak transcription	Thymus	Thymus
6	chr13:111527600-111536000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr13:111527600-111536800	Weak transcription	HSMMtube	muscle
8	chr13:111527600-111538000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr13:111527600-111538000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr13:111527600-111538600	Weak transcription	Brain Germinal Matrix	brain
11	chr13:111527600-111544200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr13:111527600-111544400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr13:111527600-111544400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr13:111527600-111544400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:111527600-111544600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr13:111527600-111544800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr13:111527600-111545000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:111527600-111545000	Weak transcription	Aorta	Aorta
19	chr13:111527600-111545200	Weak transcription	HMEC	breast
20	chr13:111527600-111560800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr13:111527800-111536000	Weak transcription	Brain Angular Gyrus	brain
22	chr13:111527800-111536000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr13:111527800-111537000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr13:111527800-111537600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr13:111527800-111537800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:111527800-111538000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr13:111527800-111538000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:111527800-111538000	Weak transcription	Ovary	ovary
29	chr13:111527800-111538200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr13:111527800-111539200	Weak transcription	Spleen	Spleen
31	chr13:111527800-111539400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr13:111527800-111539600	Weak transcription	Brain Anterior Caudate	brain
33	chr13:111527800-111539800	Weak transcription	Brain Hippocampus Middle	brain
34	chr13:111527800-111539800	Weak transcription	Fetal Kidney	kidney
35	chr13:111527800-111540000	Weak transcription	Right Ventricle	heart
36	chr13:111527800-111540200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr13:111527800-111542800	Weak transcription	A549	lung
38	chr13:111527800-111542800	Weak transcription	Dnd41	blood
39	chr13:111527800-111543600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr13:111527800-111544400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr13:111527800-111544400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr13:111527800-111544400	Weak transcription	GM12878-XiMat	blood
43	chr13:111527800-111544800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr13:111527800-111545000	Weak transcription	Fetal Intestine Large	intestine
45	chr13:111527800-111555600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr13:111527800-111558200	Weak transcription	Fetal Brain Female	brain
47	chr13:111527800-111558200	Weak transcription	Fetal Intestine Small	intestine
48	chr13:111528000-111537000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:111528000-111539200	Weak transcription	Fetal Muscle Leg	muscle
50	chr13:111528000-111539400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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