Variant report

Variant	nsv215339
Chromosome Location	chr2:145241781-145246238
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:145231487..145233427-chr2:145241009..145243768,2	K562	blood:
2	chr2:145244895..145246752-chr2:145253097..145254747,2	K562	blood:
3	chr2:145245907..145248266-chr2:145339195..145340715,2	K562	blood:
4	chr2:145243371..145247386-chr2:145248622..145250692,4	K562	blood:
5	chr2:145200171..145201962-chr2:145244962..145247958,2	K562	blood:
6	chr2:145237572..145239450-chr2:145240587..145242727,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP15-17	chr2:145242135-145242317	ucscGeneNc_uc002twc_2

No data

Extended variants
information (count: 131 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540420043	chr2:145241787-145241788	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs191690564	chr2:145241820-145241821	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs146369803	chr2:145241846-145241847	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs184668258	chr2:145241847-145241848	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs562462368	chr2:145241916-145241917	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs565461220	chr2:145242004-145242005	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs535922324	chr2:145242030-145242031	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs529609218	chr2:145242032-145242033	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs79570730	chr2:145242047-145242048	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs560173921	chr2:145242061-145242062	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs527442745	chr2:145242085-145242086	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs552728425	chr2:145242113-145242114	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs6755392	chr2:145242122-145242123	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs111651293	chr2:145242132-145242133	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs550460560	chr2:145242136-145242137	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
16	rs570567477	chr2:145242211-145242212	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs568803407	chr2:145242234-145242235	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs72992189	chr2:145242239-145242240	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs554254664	chr2:145242288-145242289	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs572489738	chr2:145242318-145242319	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs539505277	chr2:145242321-145242322	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs558233257	chr2:145242334-145242335	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs73962019	chr2:145242363-145242364	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs116306874	chr2:145242383-145242384	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs562429398	chr2:145242398-145242399	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs574422642	chr2:145242400-145242401	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs537794884	chr2:145242413-145242414	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142840447	chr2:145242414-145242415	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10193095	chr2:145242510-145242511	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17678182	chr2:145242530-145242531	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs577423791	chr2:145242559-145242560	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551940250	chr2:145242579-145242580	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564230403	chr2:145242588-145242589	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531925224	chr2:145242620-145242621	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550424227	chr2:145242621-145242622	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78687388	chr2:145242622-145242623	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76942944	chr2:145242624-145242625	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75911732	chr2:145242625-145242626	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113688320	chr2:145242718-145242719	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568766504	chr2:145242728-145242729	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190384718	chr2:145242750-145242751	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192880739	chr2:145242753-145242754	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529654158	chr2:145242768-145242769	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373656114	chr2:145242805-145242806	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548116762	chr2:145242828-145242829	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565886312	chr2:145242832-145242833	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185867700	chr2:145242856-145242857	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190189156	chr2:145242881-145242882	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144487635	chr2:145242904-145242905	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537629878	chr2:145242994-145242995	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
Non-syndromic sensorineural hearing loss	20456320	CNVD
Hirschsprung''s Disease	21712996	CNVD

Chromatin state (count:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145206800-145253400	Weak transcription	Lung	lung
2	chr2:145229000-145253600	Weak transcription	HUVEC	blood vessel
3	chr2:145229400-145242200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:145230200-145247200	Weak transcription	Colonic Mucosa	Colon
5	chr2:145231400-145247200	Weak transcription	Gastric	stomach
6	chr2:145231800-145243600	Genic enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:145232000-145241800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:145234200-145252600	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:145235600-145241800	Enhancers	Adipose Nuclei	Adipose
10	chr2:145235600-145242800	Enhancers	Brain Angular Gyrus	brain
11	chr2:145235800-145241800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:145236000-145243200	Genic enhancers	Fetal Lung	lung
13	chr2:145237600-145241800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:145237600-145241800	Weak transcription	Psoas Muscle	Psoas
15	chr2:145237600-145242200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:145237600-145247200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr2:145237600-145247200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr2:145237600-145247600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:145237600-145263000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:145237800-145243400	Enhancers	Brain Hippocampus Middle	brain
21	chr2:145238000-145241800	Weak transcription	Right Ventricle	heart
22	chr2:145238000-145245400	Weak transcription	Small Intestine	intestine
23	chr2:145238200-145242000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:145238200-145242000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:145238200-145248400	Enhancers	Brain Substantia Nigra	brain
26	chr2:145238200-145250800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:145238200-145262000	Weak transcription	NH-A	brain
28	chr2:145238400-145242000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:145238400-145247200	Weak transcription	Fetal Kidney	kidney
30	chr2:145238600-145242000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:145238800-145243200	Strong transcription	Primary B cells from cord blood	blood
32	chr2:145239000-145241800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:145239000-145242000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:145239000-145247200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:145239000-145247200	Weak transcription	HSMMtube	muscle
36	chr2:145239200-145244600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:145239400-145241800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:145239600-145242000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:145239600-145242200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:145239600-145251000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:145239800-145247200	Weak transcription	HSMM	muscle
42	chr2:145240000-145241800	Weak transcription	Placenta	Placenta
43	chr2:145240000-145242200	Genic enhancers	Brain Germinal Matrix	brain
44	chr2:145240000-145247600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:145240000-145263000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:145240200-145241800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:145240200-145241800	Weak transcription	NHLF	lung
48	chr2:145240200-145242200	Enhancers	Brain Cingulate Gyrus	brain
49	chr2:145240200-145243000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:145240400-145242000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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