Variant report

Variant	rs4324119
Chromosome Location	chr16:70570290-70570291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70569133..70572896-chr16:70573105..70577394,4	MCF-7	breast:
2	chr16:70566798..70570506-chr16:70582415..70585521,3	MCF-7	breast:
3	chr16:70403494..70406143-chr16:70569820..70571486,2	K562	blood:
4	chr16:70555931..70558148-chr16:70569788..70572644,2	K562	blood:
5	chr16:70559448..70562303-chr16:70566990..70570682,5	K562	blood:
6	chr16:70569835..70571400-chr16:70687969..70689875,2	MCF-7	breast:
7	chr16:70567922..70570866-chr16:70576238..70579366,3	K562	blood:
8	chr16:70568556..70572710-chr16:70594713..70598867,4	K562	blood:
9	chr16:70413405..70415222-chr16:70569213..70571197,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000189091	Chromatin interaction
ENSG00000157368	Chromatin interaction
ENSG00000103051	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10852465	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11075767	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11075768	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11075769	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11075770	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11640374	0.90[EUR][1000 genomes]
rs11641683	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11643344	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11643373	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11643823	0.90[EUR][1000 genomes]
rs11645092	0.90[EUR][1000 genomes]
rs11645214	0.94[EUR][1000 genomes]
rs11645287	0.90[EUR][1000 genomes]
rs11645437	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11645585	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11648402	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11649624	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11865527	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11866400	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12597401	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12909	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12925729	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12931402	0.87[EUR][1000 genomes]
rs12933634	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2168606	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2288491	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2303792	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2303793	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs33910368	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34567847	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34890962	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3762171	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4277334	0.80[EUR][1000 genomes]
rs4284632	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4436771	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4513092	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4592653	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs58963621	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6499320	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6499321	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71401814	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7194521	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7195030	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7197262	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7197840	0.94[EUR][1000 genomes]
rs7198317	0.93[EUR][1000 genomes]
rs7199859	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7200430	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7201750	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7204583	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs722579	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8045651	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8046881	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8049641	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8049786	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8051506	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8052031	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8052125	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8053436	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8057610	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8062178	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8063990	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8064013	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9635522	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9929904	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9936225	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs4324119	PDXDC2P	cis	Skin Sun Exposed Lower leg	GTEx
rs4324119	RP11-419C5.2	cis	Skin Sun Exposed Lower leg	GTEx
rs4324119	CLEC18A	cis	Artery Aorta	GTEx
rs4324119	RP11-296I10.6	cis	Esophagus Muscularis	GTEx
rs4324119	RP11-296I10.6	cis	Thyroid	GTEx
rs4324119	CLEC18A	cis	Whole Blood	GTEx
rs4324119	RP11-296I10.6	cis	Nerve Tibial	GTEx
rs4324119	RP11-296I10.6	cis	Muscle Skeletal	GTEx
rs4324119	RP11-296I10.6	cis	Artery Tibial	GTEx
rs4324119	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70559400-70606200	Strong transcription	Fetal Stomach	stomach
2	chr16:70559600-70571400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:70560400-70605200	Strong transcription	Fetal Muscle Trunk	muscle
4	chr16:70560400-70605600	Strong transcription	Placenta	Placenta
5	chr16:70560400-70607800	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr16:70560600-70598800	Strong transcription	Stomach Smooth Muscle	stomach
7	chr16:70560600-70609600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr16:70560800-70608800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr16:70561000-70605200	Strong transcription	Fetal Muscle Leg	muscle
10	chr16:70561000-70608800	Strong transcription	Fetal Thymus	thymus
11	chr16:70561000-70609000	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr16:70561000-70609400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr16:70561000-70610000	Strong transcription	Thymus	Thymus
14	chr16:70561200-70587200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
15	chr16:70561200-70602000	Strong transcription	Fetal Intestine Large	intestine
16	chr16:70561200-70609400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr16:70561200-70609600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr16:70561400-70574800	Strong transcription	Fetal Intestine Small	intestine
19	chr16:70561400-70587200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr16:70561400-70605200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr16:70561400-70607600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr16:70561400-70609000	Strong transcription	Primary B cells from cord blood	blood
23	chr16:70561400-70610000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:70561600-70572000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr16:70561600-70609000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr16:70561600-70609200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr16:70561600-70609600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr16:70561600-70609800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr16:70561800-70580600	Strong transcription	Left Ventricle	heart
30	chr16:70562200-70609600	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr16:70562400-70585200	Strong transcription	Spleen	Spleen
32	chr16:70562600-70594400	Strong transcription	Lung	lung
33	chr16:70562800-70580600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr16:70562800-70608800	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr16:70562800-70609000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr16:70563000-70590000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr16:70563000-70606400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:70563200-70570400	Strong transcription	Brain Hippocampus Middle	brain
39	chr16:70563200-70574400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:70563200-70576600	Strong transcription	HSMM	muscle
41	chr16:70563200-70582400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr16:70563200-70584400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr16:70563200-70602200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr16:70563200-70605200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr16:70563200-70605800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr16:70563200-70606600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr16:70563200-70609000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr16:70563200-70609600	Strong transcription	Primary T cells from cord blood	blood
49	chr16:70563200-70609800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr16:70563200-70610000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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