Variant report

Variant	rs12584652
Chromosome Location	chr13:48606484-48606485
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48605353..48607010-chr13:48845473..48847893,2	K562	blood:
2	chr13:48600867..48607443-chr13:48607705..48615093,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136159	Chromatin interaction
ENSG00000136143	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17350996	0.91[EUR][1000 genomes]
rs2025865	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2031591	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2296573	0.84[EUR][1000 genomes]
rs35299472	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7323969	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7330472	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7331900	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7981114	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8001871	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9285165	0.91[EUR][1000 genomes]
rs9316346	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9316347	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9316349	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9562800	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9562808	0.81[EUR][1000 genomes]
rs9567979	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9567993	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9591140	0.91[EUR][1000 genomes]
rs9595836	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9595837	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9595843	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48576000-48610800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr13:48576000-48611400	Weak transcription	Left Ventricle	heart
3	chr13:48576600-48610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr13:48584000-48610800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr13:48584200-48611200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:48599600-48610200	Weak transcription	HepG2	liver
7	chr13:48602000-48611200	Weak transcription	Brain Anterior Caudate	brain
8	chr13:48602400-48611000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr13:48602600-48610800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:48602800-48611400	Weak transcription	Aorta	Aorta
11	chr13:48603000-48610400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:48603000-48611000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr13:48603200-48610800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr13:48603400-48610200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:48603400-48610800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr13:48603800-48610800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr13:48603800-48611400	Weak transcription	Ovary	ovary
18	chr13:48604000-48608200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr13:48604600-48609000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:48604800-48606600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr13:48604800-48607000	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr13:48604800-48607400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr13:48604800-48608200	ZNF genes & repeats	Fetal Lung	lung
24	chr13:48604800-48609200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:48605000-48607000	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr13:48605000-48607200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
27	chr13:48605000-48607200	ZNF genes & repeats	Fetal Muscle Leg	muscle
28	chr13:48605000-48608400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr13:48605000-48611000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr13:48605200-48606600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
31	chr13:48605200-48607000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr13:48605200-48609200	ZNF genes & repeats	Dnd41	blood
33	chr13:48605400-48607000	ZNF genes & repeats	Fetal Stomach	stomach
34	chr13:48605400-48607200	Strong transcription	Fetal Kidney	kidney
35	chr13:48605400-48610800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr13:48605400-48610800	Weak transcription	Liver	Liver
37	chr13:48605400-48610800	Weak transcription	NHLF	lung
38	chr13:48605600-48608600	Weak transcription	Primary T cells from cord blood	blood
39	chr13:48605600-48609000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr13:48605600-48610200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr13:48605800-48607200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr13:48606000-48606600	ZNF genes & repeats	Thymus	Thymus
43	chr13:48606000-48607000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr13:48606000-48607000	ZNF genes & repeats	Fetal Thymus	thymus
45	chr13:48606000-48607200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr13:48606200-48606600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
47	chr13:48606200-48607000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr13:48606200-48607000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr13:48606200-48611000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr13:48606400-48610800	Weak transcription	Primary B cells from peripheral blood	blood

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