Variant report

Variant	rs6719224
Chromosome Location	chr2:190634271-190634272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190631241..190636295-chr2:190636583..190640272,4	K562	blood:
2	chr2:190626018..190630546-chr2:190631744..190636793,10	K562	blood:
3	chr2:190625930..190630327-chr2:190630673..190638393,9	K562	blood:
4	chr2:190632138..190639565-chr2:190646675..190650810,8	K562	blood:
5	chr2:190631446..190641228-chr2:190647618..190650786,10	MCF-7	breast:
6	chr2:190632138..190635108-chr2:190648744..190650810,3	K562	blood:

Variant related genes	Relation type
ENSG00000273240	Chromatin interaction
ENSG00000253559	Chromatin interaction
ENSG00000128699	Chromatin interaction
ENSG00000128694	Chromatin interaction
ENSG00000064933	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10195109	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10210345	0.80[CEU][hapmap]
rs1055091	0.80[CEU][hapmap];0.87[JPT][hapmap]
rs10931430	0.85[CEU][hapmap]
rs1132360	0.84[CEU][hapmap]
rs11679767	0.80[CEU][hapmap]
rs11885423	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12052909	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1225101	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs1233245	0.82[CEU][hapmap]
rs1233284	0.87[JPT][hapmap]
rs1233288	0.80[CEU][hapmap];0.87[JPT][hapmap]
rs1233297	0.81[JPT][hapmap]
rs1233302	0.86[JPT][hapmap]
rs12618231	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12619808	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12622902	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12693551	0.80[CEU][hapmap]
rs12693557	0.80[CEU][hapmap]
rs1317751	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1437891	0.80[CEU][hapmap]
rs1550388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1609883	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16831873	0.92[TSI][hapmap]
rs16831925	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16831939	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16831955	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1898560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1899025	0.80[CEU][hapmap];0.87[JPT][hapmap]
rs1966729	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2017410	0.82[CEU][hapmap]
rs2033746	0.80[CEU][hapmap]
rs2033870	0.80[CEU][hapmap]
rs2264018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2289226	0.85[CEU][hapmap]
rs2289404	0.89[CEU][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3762545	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3791767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3791770	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3791773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3816196	0.87[JPT][hapmap]
rs4666781	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4666783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4667297	0.80[CEU][hapmap]
rs4667306	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55675300	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55792400	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5742933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5742938	0.80[CEU][hapmap];0.87[JPT][hapmap]
rs5742998	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5743017	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5743032	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5743047	0.92[TSI][hapmap]
rs5743052	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5743061	0.94[CEU][hapmap];0.87[JPT][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs5743063	0.94[CEU][hapmap];0.87[JPT][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5743072	0.81[TSI][hapmap]
rs62184283	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62184286	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62185871	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6434363	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6434365	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6717922	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6942	0.80[CEU][hapmap];0.87[JPT][hapmap]
rs7557519	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7571089	0.80[CEU][hapmap]
rs7591929	0.80[CEU][hapmap];0.87[JPT][hapmap]
rs893784	0.85[CEU][hapmap]

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs6719224	ORMDL1	cis	uninvolved skin	skin_eQTL
rs6719224	ORMDL1	cis	Lymphoblastoid	GTEx
rs6719224	ORMDL1	cis	normal skin	skin_eQTL
rs6719224	ORMDL1	cis	Muscle Skeletal	GTEx
rs6719224	ASNSD1	cis	Whole Blood	GTEx
rs6719224	ORMDL1	cis	Skin Sun Exposed Lower leg	GTEx
rs6719224	LOC51240	cis	multi-tissue	Pritchard
rs6719224	ORMDL1	cis	lesional skin	skin_eQTL
rs6719224	ORMDL1	cis	Nerve Tibial	GTEx
rs6719224	ORMDL1	cis	multi-tissue	Pritchard
rs6719224	ORMDL1	cis	Heart Left Ventricle	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	chr2:190628200-190635400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:190628200-190635800	Weak transcription	Fetal Heart	heart
5	chr2:190628200-190635800	Weak transcription	Ovary	ovary
6	chr2:190628200-190638000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:190628200-190638000	Weak transcription	Right Ventricle	heart
8	chr2:190628200-190638400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:190628200-190638600	Weak transcription	Colonic Mucosa	Colon
10	chr2:190628200-190642800	Weak transcription	Lung	lung
11	chr2:190628200-190643200	Weak transcription	Esophagus	oesophagus
12	chr2:190628200-190645600	Weak transcription	Pancreas	Pancrea
13	chr2:190628200-190648000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:190628200-190648000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:190628200-190648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:190628400-190635400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:190628400-190635600	Weak transcription	Brain Germinal Matrix	brain
18	chr2:190628400-190635800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:190628400-190635800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:190628400-190642800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:190628400-190648000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:190628600-190634600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:190628600-190634600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:190628600-190634600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:190628600-190634800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:190628600-190634800	Weak transcription	HUVEC	blood vessel
27	chr2:190628600-190635400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:190628600-190635400	Weak transcription	Aorta	Aorta
29	chr2:190628600-190635800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:190628600-190635800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:190628600-190636200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:190628600-190637200	Weak transcription	Fetal Kidney	kidney
33	chr2:190628600-190637600	Weak transcription	Fetal Brain Female	brain
34	chr2:190628600-190638800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:190628600-190638800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:190628600-190642800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:190628600-190642800	Weak transcription	Fetal Intestine Small	intestine
38	chr2:190628600-190642800	Weak transcription	Thymus	Thymus
39	chr2:190628600-190647000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:190628600-190647200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:190628600-190647200	Weak transcription	Stomach Mucosa	stomach
42	chr2:190628600-190648400	Weak transcription	Small Intestine	intestine
43	chr2:190628800-190634600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:190628800-190634600	Weak transcription	K562	blood
45	chr2:190628800-190634800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:190628800-190635000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:190628800-190635400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:190628800-190635400	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:190628800-190636200	Weak transcription	Psoas Muscle	Psoas
50	chr2:190628800-190638000	Weak transcription	Brain Angular Gyrus	brain

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