Variant report

Variant	rs2049129
Chromosome Location	chr11:18305333-18305334
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	chr11:18304025..18306612-chr11:18547189..18548972,2	K562	blood:

Variant related genes	Relation type
ENSG00000074319	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1046628	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11024599	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11024603	0.93[CEU][hapmap];1.00[TSI][hapmap]
rs12291480	0.87[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12786556	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1869783	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4267051	0.88[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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv428569	chr11:18194030-18350869	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18285600-18308400	Weak transcription	Gastric	stomach
2	chr11:18287600-18334000	Weak transcription	Right Atrium	heart
3	chr11:18291800-18307800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:18291800-18314400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:18292000-18308400	Weak transcription	Right Ventricle	heart
6	chr11:18292000-18314800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:18293800-18306200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:18295200-18308000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:18295800-18307800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:18296800-18315400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:18297000-18307200	Weak transcription	Fetal Brain Male	brain
12	chr11:18297400-18328400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:18298200-18306600	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr11:18298200-18333800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:18298600-18326200	Strong transcription	Liver	Liver
16	chr11:18298800-18314200	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr11:18298800-18327600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:18298800-18331600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:18299000-18306200	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:18299000-18308400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:18299200-18305800	Weak transcription	Fetal Thymus	thymus
22	chr11:18299200-18306200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:18299200-18322000	Strong transcription	HMEC	breast
24	chr11:18299200-18332400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:18299600-18309600	Strong transcription	NH-A	brain
26	chr11:18299600-18326200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:18299600-18334200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:18299800-18307800	Weak transcription	HUVEC	blood vessel
29	chr11:18300000-18306600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr11:18300000-18320600	Strong transcription	Left Ventricle	heart
31	chr11:18300000-18328600	Weak transcription	Stomach Mucosa	stomach
32	chr11:18300000-18334400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:18300200-18306800	Strong transcription	Fetal Brain Female	brain
34	chr11:18300200-18307800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr11:18300200-18312000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr11:18300200-18320800	Strong transcription	Fetal Intestine Large	intestine
37	chr11:18300200-18323600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:18300200-18333600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:18300200-18334000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:18300200-18334800	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:18300200-18336000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:18300600-18323600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:18300600-18331600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr11:18300600-18332600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:18300600-18333200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:18300600-18334000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:18300800-18307600	Strong transcription	Hela-S3	cervix
48	chr11:18300800-18309400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:18300800-18311600	Strong transcription	HepG2	liver
50	chr11:18300800-18328400	Strong transcription	Primary neutrophils fromperipheralblood	blood

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