Variant report

Variant	rs3012137
Chromosome Location	chr13:49574092-49574093
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49568955..49571028-chr13:49572670..49574624,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1407828	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2025315	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs3012131	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs61158798	1.00[AFR][1000 genomes]
rs7992530	1.00[YRI][hapmap]
rs9568165	1.00[MKK][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv455882	chr13:49531551-49679157	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv561593	chr13:49531551-49679157	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv900067	chr13:49552271-49594818	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv900068	chr13:49559790-49605774	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49551400-49638800	Weak transcription	Pancreas	Pancrea
2	chr13:49553600-49596200	Weak transcription	Ovary	ovary
3	chr13:49555000-49581600	Weak transcription	Left Ventricle	heart
4	chr13:49557000-49579800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:49557000-49626800	Weak transcription	Right Ventricle	heart
6	chr13:49560000-49587600	Weak transcription	Fetal Kidney	kidney
7	chr13:49560200-49578000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr13:49560200-49581000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr13:49560800-49587200	Weak transcription	Small Intestine	intestine
10	chr13:49563800-49583400	Weak transcription	Fetal Heart	heart
11	chr13:49566000-49585400	Weak transcription	Fetal Stomach	stomach
12	chr13:49567000-49580200	Weak transcription	HSMM	muscle
13	chr13:49567600-49574400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr13:49568000-49598200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr13:49568600-49580400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr13:49568800-49626800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:49568800-49627000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr13:49569000-49580200	Weak transcription	Placenta	Placenta
19	chr13:49570400-49584400	Weak transcription	Gastric	stomach
20	chr13:49571200-49584200	Weak transcription	Thymus	Thymus
21	chr13:49571400-49575600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr13:49572000-49604800	Weak transcription	Aorta	Aorta
23	chr13:49572400-49581400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr13:49572800-49575200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:49572800-49576400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr13:49573000-49574200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr13:49573000-49574600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr13:49573000-49574600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
29	chr13:49573000-49575000	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr13:49573200-49574200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:49573200-49574400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:49573200-49574800	ZNF genes & repeats	Dnd41	blood
33	chr13:49573200-49575000	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr13:49573400-49574600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:49573400-49574800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:49573400-49575400	Weak transcription	Fetal Intestine Small	intestine
37	chr13:49573400-49634800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr13:49573600-49584000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr13:49573600-49595600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr13:49573800-49574800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:49573800-49574800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
42	chr13:49574000-49574800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
43	chr13:49574000-49575200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr13:49574000-49580200	Weak transcription	Hela-S3	cervix

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