Variant report

Variant	rs10931433
Chromosome Location	chr2:190629694-190629695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:190629692-190629881	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190626375..190630628-chr2:190647839..190651386,6	MCF-7	breast:
2	chr2:190524327..190528986-chr2:190625993..190629803,6	K562	blood:
3	chr2:190624834..190631096-chr2:190647637..190651740,7	K562	blood:
4	chr2:190525941..190528751-chr2:190627393..190630465,6	K562	blood:
5	chr2:190626523..190630050-chr2:190647058..190650887,5	MCF-7	breast:
6	chr2:190624834..190630334-chr2:190647529..190650706,8	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKAR-1	chr2:190629581-190629952	ENSG00000253559.1
2	lnc-ANKAR-1	chr2:190629581-190630053	ENSG00000253559.1
3	lnc-ANKAR-1	chr2:190629581-190629701	ENSG00000253559.1
4	lnc-ANKAR-1	chr2:190629581-190630282	NONHSAT076067

No data

Variant related genes	Relation type
ENSG00000273240	TF binding region
OSGEPL1	TF binding region
ENSG00000128699	Chromatin interaction
ENSG00000138381	Chromatin interaction
ENSG00000064933	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10197331	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10207346	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10210345	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1055091	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10931430	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931431	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1132360	0.83[EUR][1000 genomes]
rs11679767	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11685425	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1233245	0.82[EUR][1000 genomes]
rs1233262	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1233265	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1233272	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1233282	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1233284	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1233288	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1233291	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1233297	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1233299	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1233302	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1234834	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12471217	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12693551	0.83[EUR][1000 genomes]
rs12693557	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12990627	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12992061	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13002216	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13009889	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13011710	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13026135	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13035966	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1437891	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1899025	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2017410	0.82[EUR][1000 genomes]
rs2033746	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2033870	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2164832	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2289226	0.82[EUR][1000 genomes]
rs3816196	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4525728	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4667297	0.83[EUR][1000 genomes]
rs4667299	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5742938	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6738042	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6741074	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6942	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7571089	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7591929	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7592066	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7595020	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs893784	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs10931433	ASNSD1	Cis_1M	lymphoblastoid	RTeQTL
rs10931433	ORMDL1	cis	Adipose Subcutaneous	GTEx
rs10931433	ASNSD1	cis	Esophagus Muscularis	GTEx
rs10931433	ORMDL1	cis	Heart Left Ventricle	GTEx
rs10931433	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs10931433	ORMDL1	cis	Muscle Skeletal	GTEx
rs10931433	ORMDL1	cis	Skin Sun Exposed Lower leg	GTEx
rs10931433	ORMDL1	cis	Nerve Tibial	GTEx
rs10931433	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL
rs10931433	ORMDL1	cis	Artery Tibial	GTEx
rs10931433	ASNSD1	cis	Whole Blood	GTEx
rs10931433	ASNSD1	cis	Artery Aorta	GTEx
rs10931433	ASNSD1	cis	Nerve Tibial	GTEx
rs10931433	ASNSD1	cis	Artery Tibial	GTEx
rs10931433	ASNSD1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190627800-190642800	Weak transcription	Spleen	Spleen
2	chr2:190627800-190648200	Weak transcription	Gastric	stomach
3	chr2:190628200-190630800	Weak transcription	Left Ventricle	heart
4	chr2:190628200-190635400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:190628200-190635800	Weak transcription	Fetal Heart	heart
6	chr2:190628200-190635800	Weak transcription	Ovary	ovary
7	chr2:190628200-190638000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:190628200-190638000	Weak transcription	Right Ventricle	heart
9	chr2:190628200-190638400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:190628200-190638600	Weak transcription	Colonic Mucosa	Colon
11	chr2:190628200-190642800	Weak transcription	Lung	lung
12	chr2:190628200-190643200	Weak transcription	Esophagus	oesophagus
13	chr2:190628200-190645600	Weak transcription	Pancreas	Pancrea
14	chr2:190628200-190648000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:190628200-190648000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:190628200-190648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:190628400-190631400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:190628400-190631400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:190628400-190635400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:190628400-190635600	Weak transcription	Brain Germinal Matrix	brain
21	chr2:190628400-190635800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:190628400-190635800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:190628400-190642800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:190628400-190648000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:190628600-190630000	Weak transcription	HSMMtube	muscle
26	chr2:190628600-190631000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:190628600-190631000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr2:190628600-190631200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:190628600-190631200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:190628600-190631400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:190628600-190631400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:190628600-190631400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr2:190628600-190631400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:190628600-190631400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:190628600-190631400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:190628600-190631400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:190628600-190631600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:190628600-190631800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr2:190628600-190632000	Weak transcription	Placenta	Placenta
40	chr2:190628600-190632800	Weak transcription	Brain Anterior Caudate	brain
41	chr2:190628600-190632800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr2:190628600-190634600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:190628600-190634600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:190628600-190634600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:190628600-190634800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:190628600-190634800	Weak transcription	HUVEC	blood vessel
47	chr2:190628600-190635400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:190628600-190635400	Weak transcription	Aorta	Aorta
49	chr2:190628600-190635800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr2:190628600-190635800	Weak transcription	Brain Inferior Temporal Lobe	brain

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