Variant report

Variant	rs11842057
Chromosome Location	chr13:76192150-76192151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:76191892-76192289	ProgFib	skin:	n/a	n/a
2	POLR2A	chr13:76191498-76192252	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76191703..76193489-chr13:76193582..76195230,2	MCF-7	breast:

Variant related genes	Relation type
LMO7	TF binding region
ENSG00000136153	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10507831	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11840829	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11841846	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17064713	1.00[AMR][1000 genomes]
rs36121666	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56383676	1.00[AMR][1000 genomes]
rs56864940	1.00[AMR][1000 genomes]
rs59248213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60083157	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61472085	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094443	1.00[AMR][1000 genomes]
rs74094444	1.00[AMR][1000 genomes]
rs74094447	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094448	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094449	1.00[AMR][1000 genomes]
rs74094454	1.00[AMR][1000 genomes]
rs74094477	1.00[AMR][1000 genomes]
rs7982750	0.83[AMR][1000 genomes]
rs7986038	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8000362	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8002355	0.92[AFR][1000 genomes];0.83[AMR][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	nsv900571	chr13:76123678-76207565	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv900577	chr13:76132484-76207565	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76125000-76192800	Weak transcription	Brain Substantia Nigra	brain
2	chr13:76125000-76209600	Weak transcription	Right Ventricle	heart
3	chr13:76144000-76192400	Weak transcription	NHLF	lung
4	chr13:76144200-76194400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr13:76148200-76192200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:76148200-76203000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:76148200-76209600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr13:76149800-76209600	Weak transcription	Lung	lung
9	chr13:76158400-76192200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:76158600-76195200	Weak transcription	NHEK	skin
11	chr13:76159000-76194600	Weak transcription	HUVEC	blood vessel
12	chr13:76159000-76209600	Weak transcription	Brain Hippocampus Middle	brain
13	chr13:76159400-76201800	Weak transcription	Fetal Lung	lung
14	chr13:76164600-76194600	Weak transcription	Aorta	Aorta
15	chr13:76164600-76209400	Weak transcription	Esophagus	oesophagus
16	chr13:76165200-76209200	Weak transcription	Fetal Muscle Leg	muscle
17	chr13:76166800-76202000	Weak transcription	Fetal Brain Female	brain
18	chr13:76170800-76209600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr13:76174600-76198200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr13:76174600-76201400	Weak transcription	Psoas Muscle	Psoas
21	chr13:76176800-76199400	Weak transcription	Placenta	Placenta
22	chr13:76177600-76209400	Weak transcription	Left Ventricle	heart
23	chr13:76177600-76209600	Weak transcription	Fetal Stomach	stomach
24	chr13:76180000-76209600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr13:76180600-76204000	Weak transcription	GM12878-XiMat	blood
26	chr13:76180800-76204600	Weak transcription	Dnd41	blood
27	chr13:76180800-76209200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr13:76180800-76209200	Weak transcription	Adipose Nuclei	Adipose
29	chr13:76180800-76209600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr13:76181000-76194600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:76181000-76209400	Weak transcription	Fetal Thymus	thymus
32	chr13:76181000-76209600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr13:76181000-76209600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr13:76181200-76192200	Weak transcription	Thymus	Thymus
35	chr13:76181200-76194400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:76181200-76198200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr13:76181200-76209400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr13:76181200-76209600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr13:76181400-76199600	Weak transcription	Primary B cells from cord blood	blood
40	chr13:76181400-76199600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr13:76181600-76194600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:76181600-76207400	Weak transcription	HMEC	breast
43	chr13:76182200-76198200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr13:76182800-76194200	Weak transcription	NH-A	brain
45	chr13:76182800-76209400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr13:76183000-76194400	Weak transcription	Fetal Heart	heart
47	chr13:76187400-76198000	Weak transcription	Primary T cells from cord blood	blood
48	chr13:76188000-76193000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:76189600-76209400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr13:76189800-76192800	Strong transcription	NHDF-Ad	bronchial

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