Variant report

Variant	nsv460056
Chromosome Location	chr2:209513915-209659222
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:18)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:209658091..209661078-chr2:209663650..209665764,2	K562	blood:
2	chr2:209566175..209569038-chr2:209578092..209580670,2	K562	blood:
3	chr2:209572295..209574626-chr2:209585483..209587348,2	K562	blood:
4	chr16:12332624..12333395-chr2:209658770..209659354,2	MCF-7	breast:
5	chr2:209522358..209523062-chr2:209647609..209648423,2	MCF-7	breast:
6	chr2:209566175..209569038-chr2:209578092..209580670,2	K562	blood:
7	chr2:209522358..209523062-chr2:209647609..209648423,2	MCF-7	breast:
8	chr2:209531542..209533754-chr2:209534899..209537562,2	K562	blood:
9	chr2:209531542..209533754-chr2:209534899..209537562,2	K562	blood:
10	chr2:209514239..209516812-chr2:209521942..209523618,2	K562	blood:
11	chr2:209530769..209533042-chr2:209534899..209536830,2	K562	blood:
12	chr2:209521522..209522845-chr2:210072588..210073484,4	MCF-7	breast:
13	chr2:209514239..209516812-chr2:209521942..209523618,2	K562	blood:
14	chr2:209539963..209542308-chr2:209551023..209553001,2	K562	blood:
15	chr2:209572295..209574626-chr2:209585483..209587348,2	K562	blood:
16	chr2:209539963..209542308-chr2:209551023..209553001,2	K562	blood:
17	chr2:209331040..209332088-chr2:209646823..209648108,3	MCF-7	breast:
18	chr2:209530769..209533042-chr2:209534899..209536830,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTH2R-1	chr2:209521550-209521713	NONHSAT076646
2	lnc-PTH2R-1	chr2:209521550-209521713	NONHSAT076645
3	lnc-PTH2R-1	chr2:209521550-209521713	NONHSAT076648
4	lnc-PTH2R-1	chr2:209521550-209521713	NONHSAT076647

No data

Variant related genes	Relation type
ENSG00000227430	chromatin interactions

Extended variants
information (count: 946 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:946 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1517347	chr2:209513915-209513916	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs79474030	chr2:209513922-209513923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1517346	chr2:209513944-209513945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562548565	chr2:209513946-209513947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552357437	chr2:209513965-209513966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs16841569	chr2:209513998-209513999	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550870671	chr2:209514008-209514009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560907330	chr2:209514016-209514017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs59695899	chr2:209514069-209514070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546713582	chr2:209514095-209514096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564306154	chr2:209514114-209514115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375820890	chr2:209514170-209514171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181043413	chr2:209514206-209514207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371449431	chr2:209514207-209514208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184028151	chr2:209514219-209514220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145760252	chr2:209514230-209514231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189429263	chr2:209514280-209514281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs16841574	chr2:209514284-209514285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115429742	chr2:209514313-209514314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568558884	chr2:209514320-209514321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534164990	chr2:209514335-209514336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77043057	chr2:209514369-209514370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576881940	chr2:209514415-209514416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545917930	chr2:209514484-209514485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181078808	chr2:209514488-209514489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556252238	chr2:209514503-209514504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576414339	chr2:209514563-209514564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544154976	chr2:209514574-209514575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146642138	chr2:209514624-209514625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529838015	chr2:209514654-209514655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141375928	chr2:209514664-209514665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572680521	chr2:209514722-209514723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13012196	chr2:209514733-209514734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144608172	chr2:209514745-209514746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13035538	chr2:209514753-209514754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13035351	chr2:209514754-209514755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79304620	chr2:209514759-209514760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78307393	chr2:209514767-209514768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13035552	chr2:209514776-209514777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13035371	chr2:209514777-209514778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13012238	chr2:209514783-209514784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78980253	chr2:209514788-209514789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568737873	chr2:209514789-209514790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75313895	chr2:209514793-209514794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531384668	chr2:209514800-209514801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548593464	chr2:209514801-209514802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568698019	chr2:209514880-209514881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546972305	chr2:209514885-209514886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74703130	chr2:209514922-209514923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75094619	chr2:209514959-209514960	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bipolar disorder	19114987	CNVD
Developmental delay	21147756	CNVD
Glioma	20126413	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209512600-209515000	Enhancers	Fetal Heart	heart
2	chr2:209535200-209535600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:209535600-209536000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:209535800-209536000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:209536000-209537000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:209536000-209537000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:209536000-209537000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:209536000-209537000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:209536000-209537200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:209536000-209537200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:209536000-209537200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:209536000-209538800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:209536200-209537000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:209536200-209537200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:209536200-209537200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:209536200-209537200	Enhancers	Fetal Brain Female	brain
17	chr2:209536800-209537200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr2:209538800-209539000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:209539000-209539400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:209539400-209539800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:209562000-209563800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:209562000-209563800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:209562000-209564200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:209562200-209562800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:209562200-209563600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:209562200-209564000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr2:209562600-209563600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:209563000-209563600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:209563000-209563600	Enhancers	Fetal Stomach	stomach
30	chr2:209563600-209564400	Enhancers	Fetal Lung	lung
31	chr2:209577200-209577400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:209577600-209578400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:209577800-209578000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr2:209577800-209578200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr2:209577800-209578200	Enhancers	Brain Hippocampus Middle	brain
36	chr2:209577800-209578400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:209578000-209578200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:209578000-209578200	Enhancers	Fetal Heart	heart
39	chr2:209578200-209583200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:209578400-209579600	Weak transcription	Fetal Heart	heart
41	chr2:209579400-209579800	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:209579600-209580200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr2:209579600-209581000	Enhancers	Fetal Heart	heart
44	chr2:209580200-209580600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:209580600-209581000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr2:209582800-209584400	Enhancers	Fetal Intestine Small	intestine
47	chr2:209583000-209583200	Enhancers	Fetal Intestine Large	intestine
48	chr2:209583200-209584400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr2:209583200-209587600	Weak transcription	Fetal Intestine Large	intestine
50	chr2:209583400-209584400	Enhancers	Rectal Mucosa Donor 29	rectum

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