Variant report

Variant	nsv946494
Chromosome Location	chr1:168547940-168549528
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:168548541-168548587	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:168549490-168549540	Caco-2	colon:	n/a
2	chr1:168549490-168549540	HRCEpiC	kidney:	n/a
3	chr1:168549490-168549540	AoSMC	blood vessel:	n/a
4	chr1:168549490-168549540	NH-A	brain:	n/a
5	chr1:168549490-168549540	GM12878	blood:	n/a
6	chr1:168549490-168549540	AG04450	lung:	fetal
7	chr1:168549490-168549540	SK-N-SH_RA	brain:	n/a
8	chr1:168549490-168549540	GM12891	blood:	n/a
9	chr1:168549490-168549540	U87	brain:	n/a
10	chr1:168549490-168549540	HEK293	kidney:	embryo
11	chr1:168549490-168549540	HNPCEpiC	eye:	n/a
12	chr1:168549490-168549540	PFSK-1	brain:	n/a
13	chr1:168549490-168549540	PrEC	prostate:	n/a
14	chr1:168549490-168549540	HRE	kidney:	n/a
15	chr1:168549490-168549540	AG10803	skin:	n/a
16	chr1:168549490-168549540	Jurkat	blood:	n/a
17	chr1:168549490-168549540	BJ	skin:	n/a
18	chr1:168549490-168549540	NHDF-neo	bronchial:	n/a
19	chr1:168549490-168549540	PANC-1	pancreas:	n/a
20	chr1:168549490-168549540	GM06990	blood:	n/a
21	chr1:168549490-168549540	LNCaP	prostate:	n/a
22	chr1:168549490-168549540	ovcar-3	ovarian:	n/a
23	chr1:168549490-168549540	SK-N-MC	brain:	n/a
24	chr1:168549490-168549540	HCPEpiC	choroid plexus:	n/a
25	chr1:168549490-168549540	HL-60	blood:	n/a
26	chr1:168549490-168549540	GM12892	blood:	n/a
27	chr1:168549490-168549540	SKMC	muscle:	n/a
28	chr1:168549490-168549540	IMR90	lung:	fetal
29	chr1:168549490-168549540	RPTEC	kidney:	n/a
30	chr1:168549490-168549540	A549	lung:	n/a
31	chr1:168549490-168549540	HIPEpiC	eye:	n/a
32	chr1:168549490-168549540	NHBE	bronchial:	n/a
33	chr1:168549490-168549540	BE2_C	brain:	n/a
34	chr1:168549490-168549540	HRPEpiC	eye:	n/a
35	chr1:168549490-168549540	GM19239	blood:	n/a
36	chr1:168549490-168549540	HCT-116	colon:	n/a
37	chr1:168549490-168549540	Hepatocyte	liver:	n/a
38	chr1:168549490-168549540	T-47D	breast:	n/a
39	chr1:168549490-168549540	SK-N-SH	brain:	n/a
40	chr1:168549490-168549540	AG04449	skin:	fetal
41	chr1:168549490-168549540	HCM	heart:	n/a
42	chr1:168549490-168549540	MCF10A-Er-Src	breast:	n/a
43	chr1:168549490-168549540	SAEC	small airway:	n/a
44	chr1:168549490-168549540	ECC-1	luminal epithelium:	n/a
45	chr1:168549490-168549540	NT2-D1	testis:	n/a
46	chr1:168549490-168549540	AG09309	skin:	n/a
47	chr1:168549490-168549540	HMEC	breast:	n/a
48	chr1:168549490-168549540	HUVEC	blood vessel:	n/a
49	chr1:168549490-168549540	K562	blood:	n/a
50	chr1:168549490-168549540	HEEpiC	esophagus:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XCL2-4	chr1:168547891-168548677	NONHSAT007441

No data

Variant related genes	Relation type
ENSG00000229757	TF binding region
ENSG00000229757	CpG island

Extended variants
information (count: 101 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2300298	chr1:168547941-168547942	Active TSS Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541549563	chr1:168547967-168547968	Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs560069227	chr1:168547977-168547978	Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs149992571	chr1:168547991-168547992	Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs2300299	chr1:168548003-168548004	Active TSS Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs116039409	chr1:168548018-168548019	Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs79291815	chr1:168548113-168548114	Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs77736410	chr1:168548115-168548116	Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs78585004	chr1:168548131-168548132	Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs79499715	chr1:168548155-168548156	Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs375254257	chr1:168548159-168548160	Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs145173910	chr1:168548163-168548164	Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs549385090	chr1:168548165-168548166	Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs559877124	chr1:168548168-168548169	Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs532091453	chr1:168548217-168548218	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs149177787	chr1:168548224-168548225	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs566137476	chr1:168548293-168548294	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs7529299	chr1:168548328-168548329	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs536886389	chr1:168548329-168548330	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs548858609	chr1:168548363-168548364	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs28445100	chr1:168548372-168548373	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs570366574	chr1:168548375-168548376	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs537407051	chr1:168548379-168548380	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs558664306	chr1:168548400-168548401	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs143285447	chr1:168548417-168548418	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs534803850	chr1:168548421-168548422	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs12738456	chr1:168548445-168548446	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs4656156	chr1:168548516-168548517	Active TSS Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs12738495	chr1:168548524-168548525	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs542414123	chr1:168548534-168548535	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs560824834	chr1:168548537-168548538	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs575949606	chr1:168548564-168548565	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs4656157	chr1:168548574-168548575	Active TSS Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs138215901	chr1:168548627-168548628	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs532181445	chr1:168548633-168548634	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs114274193	chr1:168548639-168548640	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs114875062	chr1:168548692-168548693	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397832426	chr1:168548699-168548700	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111741548	chr1:168548704-168548705	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs671345	chr1:168548722-168548723	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58887669	chr1:168548728-168548729	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs537717595	chr1:168548734-168548735	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529934	chr1:168548738-168548739	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529928	chr1:168548741-168548742	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150094470	chr1:168548750-168548751	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189888053	chr1:168548753-168548754	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193173000	chr1:168548781-168548782	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138379149	chr1:168548792-168548793	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373719664	chr1:168548824-168548825	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554329397	chr1:168548833-168548834	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168539400-168550600	Weak transcription	HepG2	liver
2	chr1:168546000-168549200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:168547600-168548200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:168549200-168549400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:168549200-168549400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:168549400-168549600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:168549400-168549800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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