Variant report

Variant	nsv548145
Chromosome Location	chr1:168772393-168826032
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:26)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:168764194..168766582-chr1:168798896..168801422,2	K562	blood:
2	chr1:168795902..168797646-chr1:168799852..168802336,3	K562	blood:
3	chr1:168765218..168767116-chr1:168771235..168774023,2	K562	blood:
4	chr1:168805678..168808181-chr1:168833008..168834591,2	MCF-7	breast:
5	chr1:168771076..168773602-chr1:168775247..168778222,3	MCF-7	breast:
6	chr1:168766068..168768003-chr1:168771621..168774193,2	MCF-7	breast:
7	chr1:168798738..168800439-chr1:168814103..168816645,2	K562	blood:
8	chr1:168819023..168820599-chr1:168824082..168826869,2	MCF-7	breast:
9	chr1:168794117..168795624-chr1:169074851..169077516,2	MCF-7	breast:
10	chr1:168800645..168803136-chr1:168805186..168807347,2	K562	blood:
11	chr1:168776080..168777874-chr1:168779814..168781450,2	MCF-7	breast:
12	chr1:168775256..168778168-chr1:168778262..168779980,2	K562	blood:
13	chr1:168798738..168800439-chr1:168814103..168816645,2	K562	blood:
14	chr1:168771076..168773602-chr1:168775247..168778222,3	MCF-7	breast:
15	chr1:168803305..168804821-chr1:168806997..168808555,2	MCF-7	breast:
16	chr1:168776080..168777874-chr1:168779814..168781450,2	MCF-7	breast:
17	chr1:168775256..168778168-chr1:168778262..168779980,2	K562	blood:
18	chr1:168817844..168820279-chr1:168922566..168924253,2	K562	blood:
19	chr1:168795902..168797646-chr1:168799852..168802336,3	K562	blood:
20	chr1:168810232..168812979-chr1:168875337..168877595,2	MCF-7	breast:
21	chr1:168819023..168820599-chr1:168824082..168826869,2	MCF-7	breast:
22	chr1:168803305..168804821-chr1:168806997..168808555,2	MCF-7	breast:
23	chr1:168812635..168815594-chr1:168827412..168829922,2	MCF-7	breast:
24	chr1:168792989..168797367-chr1:169074002..169077779,5	MCF-7	breast:
25	chr1:168769055..168770618-chr1:168773095..168775108,2	MCF-7	breast:
26	chr1:168800645..168803136-chr1:168805186..168807347,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XCL1-2	chr1:168773292-168773350	XLOC_000456

No data

Variant related genes	Relation type
ENSG00000143153	chromatin interactions

Extended variants
information (count: 1650 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1650 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10918992	chr1:168772393-168772394	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572846959	chr1:168772401-168772402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540147704	chr1:168772451-168772452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79406513	chr1:168772458-168772459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187495527	chr1:168772466-168772467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190814490	chr1:168772474-168772475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77111459	chr1:168772495-168772496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540256315	chr1:168772529-168772530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75625722	chr1:168772544-168772545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183295887	chr1:168772576-168772577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553107674	chr1:168772607-168772608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527946337	chr1:168772693-168772694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13375930	chr1:168772706-168772707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144039277	chr1:168772707-168772708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34838579	chr1:168772719-168772720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188018307	chr1:168772772-168772773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549991184	chr1:168772783-168772784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560098964	chr1:168772803-168772804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573022878	chr1:168772821-168772822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539251794	chr1:168772840-168772841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116695961	chr1:168772852-168772853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs59462930	chr1:168772909-168772910	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76398463	chr1:168772910-168772911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555271737	chr1:168772918-168772919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs58266358	chr1:168772919-168772920	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532337650	chr1:168772971-168772972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs193112150	chr1:168772976-168772977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552273910	chr1:168772998-168772999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112917479	chr1:168773021-168773022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577623009	chr1:168773024-168773025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544784273	chr1:168773076-168773077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560632100	chr1:168773129-168773130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572697975	chr1:168773157-168773158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543318825	chr1:168773191-168773192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78049722	chr1:168773202-168773203	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs531598487	chr1:168773203-168773204	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs531943710	chr1:168773252-168773253	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs565137414	chr1:168773253-168773254	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs548488003	chr1:168773266-168773267	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs56036678	chr1:168773280-168773281	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544515567	chr1:168773281-168773282	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs547508786	chr1:168773313-168773314	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs74899637	chr1:168773315-168773316	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs142790679	chr1:168773334-168773335	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs577976898	chr1:168773379-168773380	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs540280337	chr1:168773385-168773386	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs182702394	chr1:168773422-168773423	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55739250	chr1:168773479-168773480	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537754957	chr1:168773480-168773481	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73038240	chr1:168773497-168773498	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

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
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168755600-168772800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:168769000-168773800	Enhancers	Fetal Intestine Large	intestine
3	chr1:168769200-168772600	Enhancers	HepG2	liver
4	chr1:168769200-168774600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:168769400-168773000	Enhancers	Hela-S3	cervix
6	chr1:168770000-168772400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:168770000-168773400	Weak transcription	A549	lung
8	chr1:168770400-168772400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:168770400-168772600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:168770400-168773200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:168770400-168773200	Weak transcription	Gastric	stomach
12	chr1:168770600-168772800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:168770600-168773400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:168771000-168773200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:168771000-168773600	Enhancers	Stomach Mucosa	stomach
16	chr1:168771200-168773400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:168771200-168774200	Enhancers	Fetal Intestine Small	intestine
18	chr1:168771400-168773000	Enhancers	Small Intestine	intestine
19	chr1:168771600-168773000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:168771800-168774200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:168772000-168772400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr1:168772200-168772400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:168772200-168772400	Enhancers	Pancreas	Pancrea
24	chr1:168772200-168772600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr1:168772200-168773200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:168772400-168772800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:168772400-168773200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:168772400-168773200	Weak transcription	Pancreas	Pancrea
29	chr1:168772400-168773400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:168772400-168773600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:168772600-168773000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:168772600-168773000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:168772600-168773200	Weak transcription	HepG2	liver
34	chr1:168772800-168773200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:168772800-168773400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:168772800-168773400	Enhancers	Brain Cingulate Gyrus	brain
37	chr1:168772800-168773600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:168773000-168773200	Enhancers	Brain Hippocampus Middle	brain
39	chr1:168773000-168773400	Enhancers	Duodenum Mucosa	Duodenum
40	chr1:168773000-168773400	Enhancers	Fetal Brain Female	brain
41	chr1:168773000-168773600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr1:168773000-168773800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:168773000-168773800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:168773000-168774200	Enhancers	Brain Angular Gyrus	brain
45	chr1:168773000-168774400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:168773200-168773400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:168773200-168773400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr1:168773200-168773600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:168773200-168773600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:168773200-168773600	Flanking Active TSS	Brain Hippocampus Middle	brain

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