Variant report

Variant	rs6542183
Chromosome Location	chr2:114669724-114669725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114651373..114654113-chr2:114668115..114670436,3	K562	blood:
2	chr2:114668940..114671388-chr2:114686835..114689758,2	MCF-7	breast:
3	chr2:114647002..114648839-chr2:114668558..114671294,3	MCF-7	breast:
4	chr2:114653670..114656368-chr2:114668759..114670499,2	MCF-7	breast:
5	chr2:114668742..114673140-chr2:114673831..114676869,6	K562	blood:

Variant related genes	Relation type
ENSG00000270019	Chromatin interaction
ENSG00000115091	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11123212	0.80[ASN][1000 genomes]
rs12466636	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12478890	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618768	1.00[ASN][1000 genomes]
rs1566813	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1825738	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3748998	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3912541	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3982221	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4341941	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4849297	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6542185	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6705687	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72835432	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7595375	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7602093	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904498	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs974057	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6542183	DDX11L2	cis	Whole Blood	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114649200-114673200	Weak transcription	Placenta	Placenta
2	chr2:114652200-114700600	Weak transcription	Fetal Brain Male	brain
3	chr2:114652400-114686000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:114653400-114672600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:114653600-114734800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:114654000-114670000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr2:114654600-114674600	Weak transcription	Hela-S3	cervix
8	chr2:114654600-114675400	Weak transcription	Fetal Stomach	stomach
9	chr2:114655800-114672600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:114655800-114672600	Weak transcription	NHEK	skin
11	chr2:114656800-114670800	Weak transcription	Dnd41	blood
12	chr2:114658000-114675400	Weak transcription	Aorta	Aorta
13	chr2:114658000-114689400	Weak transcription	Fetal Heart	heart
14	chr2:114658400-114671200	Weak transcription	Osteobl	bone
15	chr2:114658400-114674200	Weak transcription	Fetal Intestine Large	intestine
16	chr2:114659000-114671200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:114660200-114671000	Weak transcription	NH-A	brain
18	chr2:114661000-114671000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:114661200-114683800	Weak transcription	Colonic Mucosa	Colon
20	chr2:114661600-114670800	Weak transcription	Fetal Thymus	thymus
21	chr2:114662200-114675200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:114662400-114671000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:114662400-114671000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:114662400-114672400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:114662400-114676200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:114662600-114670800	Weak transcription	HUVEC	blood vessel
27	chr2:114662600-114672400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:114662600-114674400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:114662800-114690600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:114663600-114671000	Weak transcription	HSMM	muscle
31	chr2:114663600-114672600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr2:114663600-114672800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:114663800-114671000	Weak transcription	NHDF-Ad	bronchial
34	chr2:114663800-114671200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:114663800-114674600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:114663800-114674800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:114664400-114674600	Weak transcription	Fetal Lung	lung
38	chr2:114664600-114670000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:114664600-114671000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:114664600-114671600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:114665400-114675200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:114665400-114692800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:114665600-114671000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:114667200-114669800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:114667400-114700800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:114667600-114669800	Enhancers	Primary T cells fromperipheralblood	blood
47	chr2:114667600-114669800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:114667800-114670600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr2:114667800-114705000	Weak transcription	Esophagus	oesophagus
50	chr2:114668000-114670000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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