Variant report

Variant	rs2004873
Chromosome Location	chr13:95860984-95860985
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	EP300	chr13:95859753-95861073	SK-N-SH	brain:	n/a	chr13:95859814-95859828
2	MXI1	chr13:95859872-95860997	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95860458..95862000-chr13:95922105..95923828,2	K562	blood:

Variant related genes	Relation type
ENSG00000238463	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12867485	0.81[EUR][1000 genomes]
rs1751020	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1751021	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1751022	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1751023	0.81[AMR][1000 genomes]
rs34989831	0.82[EUR][1000 genomes]
rs3782967	0.81[EUR][1000 genomes]
rs4148468	0.82[EUR][1000 genomes]
rs7320840	0.82[EUR][1000 genomes]
rs9634485	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95807200-95865600	Weak transcription	Colonic Mucosa	Colon
2	chr13:95827400-95872400	Weak transcription	NH-A	brain
3	chr13:95834000-95865400	Weak transcription	Psoas Muscle	Psoas
4	chr13:95838200-95867400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr13:95839400-95863800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr13:95840400-95874400	Weak transcription	Pancreas	Pancrea
7	chr13:95842000-95864800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr13:95842000-95869000	Weak transcription	Fetal Kidney	kidney
9	chr13:95842200-95898200	Weak transcription	NHDF-Ad	bronchial
10	chr13:95844400-95864400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr13:95844400-95865600	Weak transcription	Spleen	Spleen
12	chr13:95844400-95867600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr13:95844600-95863600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:95846000-95871400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:95846200-95872400	Weak transcription	Brain Anterior Caudate	brain
16	chr13:95847800-95868200	Weak transcription	Fetal Lung	lung
17	chr13:95847800-95880400	Weak transcription	Ovary	ovary
18	chr13:95848400-95861600	Weak transcription	HSMMtube	muscle
19	chr13:95850800-95867600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:95852800-95862200	Weak transcription	Right Ventricle	heart
21	chr13:95853800-95863400	Weak transcription	Adipose Nuclei	Adipose
22	chr13:95855000-95863000	Strong transcription	Fetal Intestine Small	intestine
23	chr13:95855200-95862200	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr13:95855400-95863400	Weak transcription	Osteobl	bone
25	chr13:95855400-95867400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:95855600-95861800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:95855800-95862000	Strong transcription	NHLF	lung
28	chr13:95856000-95863000	Strong transcription	A549	lung
29	chr13:95856000-95864400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:95856400-95865400	Weak transcription	Left Ventricle	heart
31	chr13:95856400-95872600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr13:95856400-95898200	Weak transcription	NHEK	skin
33	chr13:95857400-95865400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr13:95857600-95861400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr13:95857800-95863000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:95858200-95865600	Weak transcription	Small Intestine	intestine
37	chr13:95858600-95861200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:95858600-95865600	Weak transcription	Brain Hippocampus Middle	brain
39	chr13:95858600-95880400	Weak transcription	Fetal Thymus	thymus
40	chr13:95858800-95861400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr13:95858800-95861400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr13:95858800-95861400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr13:95858800-95866200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr13:95859000-95861200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr13:95859000-95861200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr13:95859000-95861200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr13:95859000-95861400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr13:95859000-95861400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr13:95859000-95861400	Weak transcription	Fetal Intestine Large	intestine
50	chr13:95859000-95861600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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