Variant report

Variant	rs11684182
Chromosome Location	chr2:114662773-114662774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114660896..114663334-chr2:114680597..114683237,2	K562	blood:
2	chr2:114647775..114650540-chr2:114662636..114664221,2	K562	blood:
3	chr2:114662250..114664932-chr2:114666034..114668199,2	K562	blood:

Variant related genes	Relation type
ENSG00000115091	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1028245	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs11123214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11675908	0.84[ASN][1000 genomes]
rs11685296	0.84[ASN][1000 genomes]
rs11685654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11691664	0.84[ASN][1000 genomes]
rs1403401	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17045861	0.81[AMR][1000 genomes]
rs17197632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35167892	0.83[ASN][1000 genomes]
rs4241126	0.84[ASN][1000 genomes]
rs4571059	0.84[ASN][1000 genomes]
rs4849285	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs4849286	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs4849287	0.84[ASN][1000 genomes]
rs4849288	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs4849289	0.87[CEU][hapmap];0.85[CHB][hapmap]
rs4849290	0.88[CEU][hapmap];0.85[CHB][hapmap]
rs4849291	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs4849294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4849296	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57106417	0.81[ASN][1000 genomes]
rs61050591	0.84[ASN][1000 genomes]
rs62169889	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62169929	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62169935	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62171760	0.84[ASN][1000 genomes]
rs62171761	0.82[ASN][1000 genomes]
rs62171768	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62171769	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6542180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72835479	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7576537	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7579001	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7605071	0.83[CHB][hapmap]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11684182	SLC35F5	cis	Thyroid	GTEx
rs11684182	RPL23AP7	cis	Whole Blood	GTEx
rs11684182	ACTR3	Cis_1M	lymphoblastoid	RTeQTL
rs11684182	RPL23AP7	cis	Heart Left Ventricle	GTEx
rs11684182	RPL23AP7	cis	Artery Tibial	GTEx
rs11684182	DDX11L2	cis	Whole Blood	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114648600-114667600	Weak transcription	Lung	lung
2	chr2:114649200-114673200	Weak transcription	Placenta	Placenta
3	chr2:114652000-114667600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:114652000-114667600	Weak transcription	Esophagus	oesophagus
5	chr2:114652200-114700600	Weak transcription	Fetal Brain Male	brain
6	chr2:114652400-114686000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:114653400-114672600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:114653600-114734800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:114654000-114670000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr2:114654400-114667600	Weak transcription	Thymus	Thymus
11	chr2:114654600-114674600	Weak transcription	Hela-S3	cervix
12	chr2:114654600-114675400	Weak transcription	Fetal Stomach	stomach
13	chr2:114654800-114663400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:114654800-114666800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:114655400-114663000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:114655600-114665400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:114655600-114665800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr2:114655600-114667600	Weak transcription	HMEC	breast
19	chr2:114655600-114667800	Weak transcription	Fetal Intestine Small	intestine
20	chr2:114655800-114665000	Weak transcription	Ovary	ovary
21	chr2:114655800-114672600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr2:114655800-114672600	Weak transcription	NHEK	skin
23	chr2:114656600-114664600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:114656600-114668000	Weak transcription	NHLF	lung
25	chr2:114656800-114670800	Weak transcription	Dnd41	blood
26	chr2:114657600-114663600	Weak transcription	Fetal Lung	lung
27	chr2:114658000-114665000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:114658000-114667800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:114658000-114675400	Weak transcription	Aorta	Aorta
30	chr2:114658000-114689400	Weak transcription	Fetal Heart	heart
31	chr2:114658200-114665000	Weak transcription	Psoas Muscle	Psoas
32	chr2:114658200-114667600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:114658200-114668000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:114658400-114671200	Weak transcription	Osteobl	bone
35	chr2:114658400-114674200	Weak transcription	Fetal Intestine Large	intestine
36	chr2:114658600-114663200	Weak transcription	HSMM	muscle
37	chr2:114658600-114665600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr2:114658800-114667600	Weak transcription	Gastric	stomach
39	chr2:114659000-114664800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:114659000-114667600	Weak transcription	Pancreas	Pancrea
41	chr2:114659000-114671200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:114659600-114663400	Enhancers	Primary B cells from cord blood	blood
43	chr2:114659800-114667600	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:114660000-114663200	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr2:114660000-114667400	Weak transcription	Brain Substantia Nigra	brain
46	chr2:114660200-114671000	Weak transcription	NH-A	brain
47	chr2:114660400-114663600	Genic enhancers	Primary B cells from peripheral blood	blood
48	chr2:114661000-114663400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr2:114661000-114667800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:114661000-114671000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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