Variant report

Variant	rs12618768
Chromosome Location	chr2:114672590-114672591
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114664146..114665930-chr2:114672543..114675415,2	K562	blood:
2	chr2:114645266..114650561-chr2:114670334..114676393,6	MCF-7	breast:
3	chr2:114662832..114665997-chr2:114671903..114675415,3	K562	blood:
4	chr2:114645055..114647388-chr2:114670629..114673170,2	K562	blood:
5	chr2:114647586..114650445-chr2:114670762..114673318,2	K562	blood:
6	chr2:114668742..114673140-chr2:114673831..114676869,6	K562	blood:

Variant related genes	Relation type
ENSG00000115091	Chromatin interaction
ENSG00000270019	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11123212	0.94[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs12466636	0.95[ASN][1000 genomes]
rs12478890	1.00[ASN][1000 genomes]
rs12711793	0.88[JPT][hapmap]
rs1566813	0.95[ASN][1000 genomes]
rs1825738	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3748998	0.90[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs3912541	0.92[ASN][1000 genomes]
rs3982221	0.96[ASN][1000 genomes]
rs4341941	0.97[ASN][1000 genomes]
rs4849297	0.94[ASN][1000 genomes]
rs6542183	1.00[ASN][1000 genomes]
rs6542185	0.94[ASN][1000 genomes]
rs6705687	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs72835432	0.92[ASN][1000 genomes]
rs7595375	0.93[ASN][1000 genomes]
rs7602093	1.00[ASN][1000 genomes]
rs904498	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs974057	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12618768	ACTR3	Cis_1M	lymphoblastoid	RTeQTL
rs12618768	DDX11L2	cis	Whole Blood	GTEx

Chromatin state (count:119 , 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	chr2:114654600-114674600	Weak transcription	Hela-S3	cervix
7	chr2:114654600-114675400	Weak transcription	Fetal Stomach	stomach
8	chr2:114655800-114672600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:114655800-114672600	Weak transcription	NHEK	skin
10	chr2:114658000-114675400	Weak transcription	Aorta	Aorta
11	chr2:114658000-114689400	Weak transcription	Fetal Heart	heart
12	chr2:114658400-114674200	Weak transcription	Fetal Intestine Large	intestine
13	chr2:114661200-114683800	Weak transcription	Colonic Mucosa	Colon
14	chr2:114662200-114675200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:114662400-114676200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:114662600-114674400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:114662800-114690600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:114663600-114672600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:114663600-114672800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:114663800-114674600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:114663800-114674800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:114664400-114674600	Weak transcription	Fetal Lung	lung
23	chr2:114665400-114675200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:114665400-114692800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:114667400-114700800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:114667800-114705000	Weak transcription	Esophagus	oesophagus
27	chr2:114668000-114675200	Weak transcription	Lung	lung
28	chr2:114668000-114675600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:114668000-114676000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:114668000-114690800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:114668200-114672600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:114668200-114675000	Weak transcription	Ovary	ovary
33	chr2:114668200-114675400	Weak transcription	Pancreas	Pancrea
34	chr2:114668200-114692600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:114668200-114695800	Weak transcription	Psoas Muscle	Psoas
36	chr2:114668200-114704800	Weak transcription	Gastric	stomach
37	chr2:114668400-114672600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:114668400-114674200	Weak transcription	NHLF	lung
39	chr2:114668400-114674800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:114668400-114675200	Weak transcription	Left Ventricle	heart
41	chr2:114668400-114675400	Weak transcription	Thymus	Thymus
42	chr2:114668400-114696200	Weak transcription	Small Intestine	intestine
43	chr2:114668400-114735000	Weak transcription	Stomach Mucosa	stomach
44	chr2:114668600-114672600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:114668600-114674800	Weak transcription	Fetal Brain Female	brain
46	chr2:114668600-114674800	Weak transcription	HSMMtube	muscle
47	chr2:114668600-114692800	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:114668800-114674600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:114668800-114675000	Weak transcription	Fetal Kidney	kidney
50	chr2:114668800-114675400	Weak transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links