Variant report

Variant	nsv946493
Chromosome Location	chr1:168510865-168514616
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:168512256-168512493	GM12878	blood:	n/a	n/a
2	CTCF	chr1:168512268-168512339	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr1:168511798-168511869	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr1:168513517-168513676	A549	lung:	n/a	n/a
5	CTCF	chr1:168513062-168513142	ProgFib	skin:	n/a	n/a
6	MYC	chr1:168513497-168513622	MCF-7	breast:	n/a	n/a
7	MYC	chr1:168513528-168513538	MCF-7	breast:	n/a	n/a
8	MYC	chr1:168513534-168513608	MCF-7	breast:	n/a	n/a
9	MYC	chr1:168513550-168513572	MCF-7	breast:	n/a	n/a
10	MYC	chr1:168513548-168513561	MCF-7	breast:	n/a	n/a
11	POLR2A	chr1:168513121-168513134	A549	lung:	n/a	n/a
12	POLR2A	chr1:168513430-168513720	A549	lung:	n/a	n/a
13	POLR2A	chr1:168513463-168513667	MCF-7	breast:	n/a	n/a
14	POLR2A	chr1:168511527-168511528	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:168511536-168511808	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:168513517-168513645	MCF-7	breast:	n/a	n/a
17	POU2F2	chr1:168513381-168513725	GM12878	blood:	n/a	n/a
18	SPI1	chr1:168511755-168512021	GM12878	blood:	n/a	n/a
19	SPI1	chr1:168511665-168512039	GM12891	blood:	n/a	n/a
20	SPI1	chr1:168512143-168512577	GM12891	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:168514108-168514158	ProgFib	skin:	n/a
2	chr1:168513310-168513360	ProgFib	skin:	n/a
3	chr1:168513310-168513360	AG10803	skin:	n/a
4	chr1:168513242-168513292	HepG2	liver:	n/a
5	chr1:168514108-168514158	Caco-2	colon:	n/a
6	chr1:168513242-168513292	HCM	heart:	n/a
7	chr1:168513310-168513360	HEK293	kidney:	embryo
8	chr1:168513310-168513360	A549	lung:	n/a
9	chr1:168513242-168513292	GM12878	blood:	n/a
10	chr1:168513310-168513360	HUVEC	blood vessel:	n/a
11	chr1:168513242-168513292	SK-N-SH	brain:	n/a
12	chr1:168513067-168513117	PrEC	prostate:	n/a
13	chr1:168514532-168514582	U87	brain:	n/a
14	chr1:168513067-168513117	HAEpiC	amniotic membrane:	n/a
15	chr1:168513067-168513117	BJ	skin:	n/a
16	chr1:168513242-168513292	HEEpiC	esophagus:	n/a
17	chr1:168513242-168513292	CMK	blood:	n/a
18	chr1:168514532-168514582	RPTEC	kidney:	n/a
19	chr1:168514108-168514158	Hela-S3	cervix:	n/a
20	chr1:168513067-168513117	AoSMC	blood vessel:	n/a
21	chr1:168513310-168513360	T-47D	breast:	n/a
22	chr1:168513067-168513117	LNCaP	prostate:	n/a
23	chr1:168514532-168514582	HL-60	blood:	n/a
24	chr1:168513067-168513117	AG09309	skin:	n/a
25	chr1:168513067-168513117	HRE	kidney:	n/a
26	chr1:168514108-168514158	SAEC	small airway:	n/a
27	chr1:168513067-168513117	GM12892	blood:	n/a
28	chr1:168513242-168513292	BE2_C	brain:	n/a
29	chr1:168514108-168514158	GM12891	blood:	n/a
30	chr1:168513242-168513292	U87	brain:	n/a
31	chr1:168513067-168513117	AG04450	lung:	fetal
32	chr1:168513310-168513360	NT2-D1	testis:	n/a
33	chr1:168513310-168513360	SKMC	muscle:	n/a
34	chr1:168513242-168513292	Caco-2	colon:	n/a
35	chr1:168513242-168513292	AoSMC	blood vessel:	n/a
36	chr1:168514532-168514582	HCPEpiC	choroid plexus:	n/a
37	chr1:168513067-168513117	HL-60	blood:	n/a
38	chr1:168513310-168513360	GM12891	blood:	n/a
39	chr1:168513242-168513292	A549	lung:	n/a
40	chr1:168513310-168513360	GM12878	blood:	n/a
41	chr1:168513242-168513292	SKMC	muscle:	n/a
42	chr1:168513067-168513117	Hela-S3	cervix:	n/a
43	chr1:168513242-168513292	HRPEpiC	eye:	n/a
44	chr1:168514108-168514158	HIPEpiC	eye:	n/a
45	chr1:168514108-168514158	U87	brain:	n/a
46	chr1:168513067-168513117	Jurkat	blood:	n/a
47	chr1:168513067-168513117	MCF10A-Er-Src	breast:	n/a
48	chr1:168514532-168514582	NT2-D1	testis:	n/a
49	chr1:168514532-168514582	HRE	kidney:	n/a
50	chr1:168513067-168513117	HNPCEpiC	eye:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XCL2-3	chr1:168514595-168514697	l_145_NR_026957
2	lnc-XCL2-3	chr1:168514595-168514697	NONHSAT007439

No data

Variant related genes	Relation type
XCL2	TF binding region
ENSG00000227777	TF binding region
XCL2	CpG island
ENSG00000227777	CpG island

Extended variants
information (count: 260 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552840914	chr1:168510876-168510877	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570716980	chr1:168510886-168510887	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535009794	chr1:168510887-168510888	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184336771	chr1:168510892-168510893	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187744852	chr1:168510925-168510926	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535968452	chr1:168510938-168510939	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149740232	chr1:168510954-168510955	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576188088	chr1:168510985-168510986	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543310970	chr1:168510998-168510999	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112789013	chr1:168511037-168511038	Flanking Active TSS Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192656983	chr1:168511058-168511059	Flanking Active TSS Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183575511	chr1:168511059-168511060	Flanking Active TSS Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558955002	chr1:168511077-168511078	Flanking Active TSS Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114737056	chr1:168511081-168511082	Flanking Active TSS Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547905720	chr1:168511110-168511111	Flanking Active TSS Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563687905	chr1:168511119-168511120	Flanking Active TSS Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189568921	chr1:168511137-168511138	Flanking Active TSS Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76400946	chr1:168511155-168511156	Flanking Active TSS Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571123469	chr1:168511156-168511157	Flanking Active TSS Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377479708	chr1:168511160-168511161	Flanking Active TSS Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528812710	chr1:168511169-168511170	Flanking Active TSS Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372387492	chr1:168511181-168511182	Flanking Active TSS Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377307734	chr1:168511185-168511186	Flanking Active TSS Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115146581	chr1:168511187-168511188	Flanking Active TSS Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114044923	chr1:168511193-168511194	Flanking Active TSS Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376216377	chr1:168511195-168511196	Flanking Active TSS Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116168093	chr1:168511205-168511206	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs370342820	chr1:168511206-168511207	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs201016321	chr1:168511224-168511225	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs375960253	chr1:168511225-168511226	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs370855359	chr1:168511250-168511251	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs374310854	chr1:168511254-168511255	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs145525833	chr1:168511269-168511270	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs537245270	chr1:168511274-168511275	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs558497766	chr1:168511281-168511282	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs4282797	chr1:168511284-168511285	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs146927911	chr1:168511292-168511293	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs4501820	chr1:168511321-168511322	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs4301615	chr1:168511325-168511326	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142896007	chr1:168511331-168511332	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs140039166	chr1:168511337-168511338	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs200963789	chr1:168511346-168511347	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs4478789	chr1:168511349-168511350	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs541486301	chr1:168511351-168511352	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs371162931	chr1:168511381-168511382	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs199846581	chr1:168511392-168511393	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs530567551	chr1:168511395-168511396	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs654630	chr1:168511412-168511413	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145573734	chr1:168511422-168511423	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528765532	chr1:168511425-168511426	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168506600-168511400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:168506600-168512400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:168507000-168512400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:168510200-168511200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:168510800-168511000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:168510800-168512600	Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr1:168510800-168513000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:168511000-168511400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr1:168511200-168511400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:168511400-168513000	Active TSS	Primary T cells fromperipheralblood	blood
11	chr1:168511400-168513000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:168512400-168512600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:168512400-168513400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr1:168512600-168513000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:168512600-168514400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:168513000-168513400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr1:168513000-168513400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:168513000-168513400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr1:168513000-168513400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:168513200-168513400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr1:168513400-168514800	Weak transcription	Primary T cells fromperipheralblood	blood

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