Variant report

Variant	rs13005850
Chromosome Location	chr2:55909549-55909550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55908037..55910192-chr2:55913450..55914973,2	K562	blood:
2	chr2:55908913..55911082-chr2:55915955..55917919,2	K562	blood:
3	chr2:55890547..55892839-chr2:55908611..55911224,2	K562	blood:
4	chr2:55907894..55910772-chr2:55917200..55919535,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12467339	0.84[ASN][1000 genomes]
rs12473585	0.85[ASN][1000 genomes]
rs12473621	0.85[ASN][1000 genomes]
rs12612227	0.80[ASN][1000 genomes]
rs12619903	0.83[ASN][1000 genomes]
rs12620407	0.93[ASN][1000 genomes]
rs12623937	0.80[AMR][1000 genomes]
rs12986797	0.80[ASN][1000 genomes]
rs12993839	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12998664	0.82[ASN][1000 genomes]
rs12999966	0.84[ASN][1000 genomes]
rs13007577	0.86[ASN][1000 genomes]
rs13009649	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13013133	0.85[ASN][1000 genomes]
rs13013699	0.85[ASN][1000 genomes]
rs13019595	0.81[ASN][1000 genomes]
rs13024761	0.87[ASN][1000 genomes]
rs1443746	0.91[ASN][1000 genomes]
rs1542643	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17737233	0.81[ASN][1000 genomes]
rs17800203	0.85[ASN][1000 genomes]
rs2291336	0.81[ASN][1000 genomes]
rs34129478	0.80[ASN][1000 genomes]
rs35124901	0.80[ASN][1000 genomes]
rs35255044	0.81[ASN][1000 genomes]
rs3828238	0.81[ASN][1000 genomes]
rs6737995	0.81[ASN][1000 genomes]
rs6753530	0.82[ASN][1000 genomes]
rs878124	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1008452	chr2:55809191-55987274	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv2762645	chr2:55892248-55963418	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv2760573	chr2:55903016-55941440	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55846800-55919800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:55847400-55911000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:55858200-55920400	Weak transcription	Fetal Heart	heart
4	chr2:55864400-55919600	Weak transcription	NHLF	lung
5	chr2:55866600-55920000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:55870400-55920000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:55870600-55920000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:55870800-55920400	Weak transcription	Aorta	Aorta
9	chr2:55871000-55920000	Weak transcription	Spleen	Spleen
10	chr2:55873200-55919800	Weak transcription	Small Intestine	intestine
11	chr2:55874800-55920200	Weak transcription	Pancreas	Pancrea
12	chr2:55879000-55917600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:55879400-55914200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:55881200-55913000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:55882200-55909600	Weak transcription	Brain Germinal Matrix	brain
16	chr2:55883000-55919800	Weak transcription	HSMMtube	muscle
17	chr2:55888800-55909600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:55889800-55918400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:55890200-55915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:55890400-55914200	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:55892000-55914000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:55892200-55914000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr2:55892400-55919800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:55892600-55917000	Strong transcription	Dnd41	blood
25	chr2:55893200-55915800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:55893800-55909800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:55893800-55910200	Weak transcription	Colonic Mucosa	Colon
28	chr2:55894000-55919800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:55895800-55920000	Weak transcription	Right Ventricle	heart
30	chr2:55896200-55909800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:55897000-55914400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:55897600-55913600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:55897600-55914200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:55898000-55913600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:55900200-55909600	Weak transcription	NH-A	brain
36	chr2:55901200-55915000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:55901200-55915200	Strong transcription	GM12878-XiMat	blood
38	chr2:55901800-55914200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:55901800-55916000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:55902000-55914000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:55902000-55914000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr2:55902000-55915200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr2:55902000-55916000	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:55903200-55915800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:55903400-55914200	Strong transcription	Adipose Nuclei	Adipose
46	chr2:55903600-55913200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr2:55903600-55914200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:55903600-55915800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:55904000-55913400	Strong transcription	Fetal Thymus	thymus
50	chr2:55904000-55913800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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