Variant report

Variant	rs7595020
Chromosome Location	chr2:190643676-190643677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190639387..190641979-chr2:190643481..190646316,2	K562	blood:
2	chr2:190625358..190627993-chr2:190641227..190644183,3	K562	blood:
3	chr2:190637903..190640151-chr2:190642626..190644540,2	MCF-7	breast:
4	chr2:190640380..190645016-chr2:190647065..190650284,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128694	Chromatin interaction
ENSG00000064933	Chromatin interaction
ENSG00000128699	Chromatin interaction
ENSG00000253559	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10197331	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10207346	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10210345	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1055091	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10931430	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10931431	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931433	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1132360	0.83[EUR][1000 genomes]
rs11679767	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11685425	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1233245	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1233262	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1233265	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1233272	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1233282	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1233284	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1233288	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1233291	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1233297	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1233299	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1233302	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1234834	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12471217	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12693551	0.84[EUR][1000 genomes]
rs12693557	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12990627	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12992061	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13002216	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13009889	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13011710	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13026135	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13035966	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1437891	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1899025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017410	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2033746	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2033870	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2164832	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2289226	0.83[EUR][1000 genomes]
rs3816196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4525728	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4667297	0.84[EUR][1000 genomes]
rs4667299	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5742938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6741074	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6942	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7571089	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7591929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592066	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs893784	0.86[EUR][1000 genomes]
rs920427	0.80[EUR][1000 genomes]

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs7595020	ASNSD1	cis	Esophagus Muscularis	GTEx
rs7595020	ORMDL1	cis	Muscle Skeletal	GTEx
rs7595020	ORMDL1	cis	Adipose Subcutaneous	GTEx
rs7595020	ASNSD1	cis	Whole Blood	GTEx
rs7595020	ORMDL1	cis	Artery Tibial	GTEx
rs7595020	ASNSD1	cis	Artery Tibial	GTEx
rs7595020	ORMDL1	cis	Skin Sun Exposed Lower leg	GTEx
rs7595020	ASNSD1	cis	Artery Aorta	GTEx
rs7595020	ASNSD1	cis	Nerve Tibial	GTEx
rs7595020	ORMDL1	cis	Heart Left Ventricle	GTEx
rs7595020	ASNSD1	Cis_1M	lymphoblastoid	RTeQTL
rs7595020	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs7595020	ASNSD1	cis	Thyroid	GTEx
rs7595020	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL
rs7595020	ORMDL1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190627800-190648200	Weak transcription	Gastric	stomach
2	chr2:190628200-190645600	Weak transcription	Pancreas	Pancrea
3	chr2:190628200-190648000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:190628200-190648000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:190628200-190648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:190628400-190648000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:190628600-190647000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:190628600-190647200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:190628600-190647200	Weak transcription	Stomach Mucosa	stomach
10	chr2:190628600-190648400	Weak transcription	Small Intestine	intestine
11	chr2:190629000-190644200	Weak transcription	Fetal Brain Male	brain
12	chr2:190629000-190647200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:190629800-190647000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:190630000-190646600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:190630800-190647000	Strong transcription	HSMM	muscle
16	chr2:190631000-190646200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:190631200-190645400	Strong transcription	Liver	Liver
18	chr2:190631200-190646200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:190631200-190647200	Strong transcription	Fetal Thymus	thymus
20	chr2:190631400-190644000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:190631400-190646000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:190631400-190646000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:190631400-190646800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:190631600-190645000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:190631600-190645600	Strong transcription	Primary B cells from cord blood	blood
26	chr2:190631600-190646200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:190631600-190647000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:190632000-190646600	Strong transcription	Placenta	Placenta
29	chr2:190632800-190647200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr2:190633000-190645200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:190633200-190646200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:190633200-190646800	Strong transcription	HMEC	breast
33	chr2:190633600-190646600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:190634000-190646400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr2:190634000-190647000	Strong transcription	Osteobl	bone
36	chr2:190634200-190644800	Strong transcription	Fetal Intestine Large	intestine
37	chr2:190634200-190647400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr2:190634400-190644200	Strong transcription	Dnd41	blood
39	chr2:190634600-190644800	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr2:190634600-190645000	Strong transcription	Primary T cells from cord blood	blood
41	chr2:190634600-190645800	Strong transcription	Adipose Nuclei	Adipose
42	chr2:190634600-190646200	Strong transcription	Primary hematopoietic stem cells	blood
43	chr2:190634600-190646400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:190634600-190646600	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr2:190634600-190647000	Strong transcription	NH-A	brain
46	chr2:190634600-190647200	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr2:190634600-190647200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:190634600-190647200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:190634800-190644000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:190634800-190645200	Strong transcription	HUVEC	blood vessel

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