Variant report

Variant	nsv213327
Chromosome Location	chr2:190726489-190729383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ORMDL1-1	chr2:190728385-190729018	ENSG00000246348

Variant related genes	Relation type
ZNF215	miRNA target sites

Extended variants
information (count: 105 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145841066	chr2:190726501-190726502	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs551311253	chr2:190726531-190726532	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs566155019	chr2:190726543-190726544	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs199762646	chr2:190726561-190726562	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs150332093	chr2:190726568-190726569	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs527353534	chr2:190726619-190726620	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs571995146	chr2:190726632-190726633	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs548706041	chr2:190726690-190726691	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs568297140	chr2:190726723-190726724	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs536090886	chr2:190726843-190726844	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs557358583	chr2:190726916-190726917	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs569491762	chr2:190726976-190726977	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs187322197	chr2:190726999-190727000	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs558155817	chr2:190727000-190727001	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs573289683	chr2:190727034-190727035	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs148991863	chr2:190727071-190727072	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs557279091	chr2:190727080-190727081	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs143755868	chr2:190727084-190727085	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs10183082	chr2:190727115-190727116	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545890368	chr2:190727180-190727181	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs544355816	chr2:190727198-190727199	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs576565983	chr2:190727230-190727231	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192211318	chr2:190727247-190727248	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181872530	chr2:190727284-190727285	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79400901	chr2:190727290-190727291	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559704058	chr2:190727319-190727320	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544853828	chr2:190727324-190727325	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527319754	chr2:190727378-190727379	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151176794	chr2:190727443-190727444	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs4340564	chr2:190727468-190727469	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs567059905	chr2:190727511-190727512	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs256567	chr2:190727531-190727532	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs551105727	chr2:190727543-190727544	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs569372326	chr2:190727547-190727548	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs540090656	chr2:190727548-190727549	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs573280149	chr2:190727600-190727601	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs552136128	chr2:190727689-190727690	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs186947433	chr2:190727798-190727799	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs534226413	chr2:190727845-190727846	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs370672889	chr2:190727899-190727900	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs562111775	chr2:190727927-190727928	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs191228433	chr2:190727938-190727939	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs111899559	chr2:190727939-190727940	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs375589836	chr2:190727964-190727965	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs574063102	chr2:190727973-190727974	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs555808044	chr2:190727975-190727976	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs10173958	chr2:190727983-190727984	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs10186383	chr2:190727985-190727986	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs140300811	chr2:190728019-190728020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182559769	chr2:190728049-190728050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190658200-190743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:190659800-190743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:190664800-190741800	Weak transcription	Brain Angular Gyrus	brain
4	chr2:190669400-190743800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:190681000-190743000	Weak transcription	Brain Germinal Matrix	brain
6	chr2:190684000-190743600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:190685000-190736400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:190685400-190739400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:190685400-190741800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:190687000-190738400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:190687000-190738400	Weak transcription	Lung	lung
12	chr2:190691000-190744200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:190701200-190743200	Weak transcription	Fetal Brain Male	brain
14	chr2:190701400-190744000	Weak transcription	Fetal Brain Female	brain
15	chr2:190701600-190727400	Weak transcription	HSMMtube	muscle
16	chr2:190701600-190743200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:190701600-190744800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:190701800-190745200	Weak transcription	Fetal Kidney	kidney
19	chr2:190702400-190745600	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:190705200-190740000	Weak transcription	Right Ventricle	heart
21	chr2:190706800-190742800	Weak transcription	Fetal Heart	heart
22	chr2:190707000-190738200	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:190707000-190741400	Weak transcription	Brain Anterior Caudate	brain
24	chr2:190707400-190741200	Weak transcription	Brain Substantia Nigra	brain
25	chr2:190707600-190746000	Weak transcription	Left Ventricle	heart
26	chr2:190708400-190743400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:190708800-190744400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:190709200-190727200	Weak transcription	A549	lung
29	chr2:190709600-190744000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:190710600-190741800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:190711000-190726800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:190711800-190733000	Weak transcription	Spleen	Spleen
33	chr2:190713200-190743400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:190713200-190743800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:190713200-190745600	Weak transcription	Pancreas	Pancrea
36	chr2:190713800-190727600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:190713800-190729600	Weak transcription	Fetal Lung	lung
38	chr2:190713800-190743800	Weak transcription	Fetal Intestine Large	intestine
39	chr2:190713800-190744400	Weak transcription	Gastric	stomach
40	chr2:190713800-190744800	Weak transcription	K562	blood
41	chr2:190714000-190728400	Weak transcription	Fetal Thymus	thymus
42	chr2:190714600-190743800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:190714600-190744000	Weak transcription	Fetal Stomach	stomach
44	chr2:190714600-190744400	Weak transcription	Psoas Muscle	Psoas
45	chr2:190714800-190728800	Weak transcription	Adipose Nuclei	Adipose
46	chr2:190714800-190745200	Weak transcription	NHEK	skin
47	chr2:190715000-190727000	Weak transcription	Fetal Muscle Leg	muscle
48	chr2:190715000-190741800	Weak transcription	Aorta	Aorta
49	chr2:190715200-190730600	Weak transcription	Placenta	Placenta
50	chr2:190715600-190744800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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