Variant report

Variant	rs2124373
Chromosome Location	chr11:18313737-18313738
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18307338..18310336-chr11:18312698..18315910,3	K562	blood:
2	chr11:18307433..18309737-chr11:18313648..18316152,2	K562	blood:

Variant related genes	Relation type
ENSG00000110756	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17566849	1.00[MEX][hapmap]
rs4150553	1.00[EUR][1000 genomes]
rs4150592	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4150597	1.00[EUR][1000 genomes]
rs4150647	1.00[EUR][1000 genomes]
rs4150672	1.00[EUR][1000 genomes]
rs4150677	1.00[EUR][1000 genomes]
rs750948	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 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	chr11:18287600-18334000	Weak transcription	Right Atrium	heart
2	chr11:18291800-18314400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:18292000-18314800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:18296800-18315400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:18297400-18328400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:18298200-18333800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:18298600-18326200	Strong transcription	Liver	Liver
8	chr11:18298800-18314200	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr11:18298800-18327600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:18298800-18331600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:18299200-18322000	Strong transcription	HMEC	breast
12	chr11:18299200-18332400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:18299600-18326200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:18299600-18334200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:18300000-18320600	Strong transcription	Left Ventricle	heart
16	chr11:18300000-18328600	Weak transcription	Stomach Mucosa	stomach
17	chr11:18300000-18334400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:18300200-18320800	Strong transcription	Fetal Intestine Large	intestine
19	chr11:18300200-18323600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:18300200-18333600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:18300200-18334000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:18300200-18334800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:18300200-18336000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:18300600-18323600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:18300600-18331600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:18300600-18332600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:18300600-18333200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:18300600-18334000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:18300800-18328400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:18300800-18330200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:18300800-18333000	Strong transcription	Dnd41	blood
32	chr11:18301000-18320600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr11:18301000-18321800	Strong transcription	HSMM	muscle
34	chr11:18301000-18328000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:18301000-18334400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:18301200-18324400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:18302000-18315600	Weak transcription	Fetal Heart	heart
38	chr11:18302000-18325000	Strong transcription	HSMMtube	muscle
39	chr11:18302200-18316600	Strong transcription	Brain Hippocampus Middle	brain
40	chr11:18302200-18333000	Strong transcription	Adipose Nuclei	Adipose
41	chr11:18302400-18316800	Strong transcription	Fetal Stomach	stomach
42	chr11:18303000-18321600	Strong transcription	Placenta	Placenta
43	chr11:18303000-18321600	Strong transcription	A549	lung
44	chr11:18303000-18327000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:18303000-18334800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:18303200-18316600	Strong transcription	GM12878-XiMat	blood
47	chr11:18303200-18322600	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:18303200-18325600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr11:18303200-18334800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr11:18303400-18335000	Strong transcription	Primary T cells fromperipheralblood	blood

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