Variant report

Variant	rs72835479
Chromosome Location	chr2:114683514-114683515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:114683284-114684400	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:114683277-114683685	K562	blood:	n/a	n/a
3	MAFK	chr2:114683485-114683845	IMR90	lung:	n/a	chr2:114683653-114683668
4	POLR2A	chr2:114683370-114684567	GM12878	blood:	n/a	n/a
5	MAFF	chr2:114683510-114683843	HepG2	liver:	n/a	chr2:114683658-114683676
6	WRNIP1	chr2:114683480-114683628	GM12878	blood:	n/a	n/a
7	MAFK	chr2:114683493-114683834	HepG2	liver:	n/a	chr2:114683653-114683668
8	MXI1	chr2:114683456-114683600	K562	blood:	n/a	n/a
9	MAFK	chr2:114683498-114683832	HepG2	liver:	n/a	chr2:114683653-114683668

No.	Distal block	Cell Line	Cell type
1	chr2:114682272..114683887-chr20:52570600..52573468,2	MCF-7	breast:
2	chr2:114672608..114675280-chr2:114681471..114684124,3	K562	blood:
3	chr2:114512708..114514375-chr2:114682269..114685341,3	MCF-7	breast:
4	chr2:114672608..114674556-chr2:114681471..114684124,2	K562	blood:

Variant related genes	Relation type
ACTR3	TF binding region
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1028245	0.81[ASN][1000 genomes]
rs11123214	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11675908	0.81[ASN][1000 genomes]
rs11684182	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11685296	0.81[ASN][1000 genomes]
rs11685654	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11691664	0.81[ASN][1000 genomes]
rs1403401	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17197632	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35167892	0.80[ASN][1000 genomes]
rs4241126	0.81[ASN][1000 genomes]
rs4571059	0.81[ASN][1000 genomes]
rs4849285	0.81[ASN][1000 genomes]
rs4849286	0.81[ASN][1000 genomes]
rs4849287	0.81[ASN][1000 genomes]
rs4849288	0.81[ASN][1000 genomes]
rs4849291	0.81[ASN][1000 genomes]
rs4849294	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4849296	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61050591	0.81[ASN][1000 genomes]
rs62169889	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62169929	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62169935	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62171760	0.81[ASN][1000 genomes]
rs62171768	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62171769	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6542180	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6642	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7576537	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579001	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs72835479	DDX11L2	cis	lung	GTEx
rs72835479	DDX11L2	cis	Whole Blood	GTEx
rs72835479	RPL23AP7	cis	Heart Left Ventricle	GTEx
rs72835479	RPL23AP7	cis	Whole Blood	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114652200-114700600	Weak transcription	Fetal Brain Male	brain
2	chr2:114652400-114686000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:114653600-114734800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:114658000-114689400	Weak transcription	Fetal Heart	heart
5	chr2:114661200-114683800	Weak transcription	Colonic Mucosa	Colon
6	chr2:114662800-114690600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:114665400-114692800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:114667400-114700800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:114667800-114705000	Weak transcription	Esophagus	oesophagus
10	chr2:114668000-114690800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:114668200-114692600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:114668200-114695800	Weak transcription	Psoas Muscle	Psoas
13	chr2:114668200-114704800	Weak transcription	Gastric	stomach
14	chr2:114668400-114696200	Weak transcription	Small Intestine	intestine
15	chr2:114668400-114735000	Weak transcription	Stomach Mucosa	stomach
16	chr2:114668600-114692800	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:114668800-114703200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:114669000-114686400	Weak transcription	Brain Angular Gyrus	brain
19	chr2:114669200-114686400	Weak transcription	Brain Substantia Nigra	brain
20	chr2:114669400-114693400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:114670800-114693000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:114670800-114717400	Strong transcription	Fetal Thymus	thymus
23	chr2:114670800-114719000	Strong transcription	Dnd41	blood
24	chr2:114671000-114684600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:114671000-114695000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:114671000-114704800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:114671000-114720000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:114671200-114692800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:114671200-114694000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:114672000-114723200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:114673000-114703000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:114674400-114715800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:114675000-114691600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr2:114675800-114684600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:114675800-114685600	Weak transcription	Brain Anterior Caudate	brain
36	chr2:114675800-114686000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:114676000-114685800	Weak transcription	Fetal Brain Female	brain
38	chr2:114676000-114706200	Weak transcription	Hela-S3	cervix
39	chr2:114676200-114685800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:114676200-114686000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:114676200-114686400	Weak transcription	Aorta	Aorta
42	chr2:114676200-114686800	Weak transcription	Ovary	ovary
43	chr2:114676200-114696200	Weak transcription	Pancreas	Pancrea
44	chr2:114676200-114704800	Weak transcription	Spleen	Spleen
45	chr2:114676400-114686000	Weak transcription	Left Ventricle	heart
46	chr2:114676400-114686000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:114676600-114683600	Weak transcription	Fetal Muscle Leg	muscle
48	chr2:114676600-114684800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:114676600-114685200	Weak transcription	NHLF	lung
50	chr2:114676600-114691800	Weak transcription	Stomach Smooth Muscle	stomach

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