Variant report

Variant	nsv947510
Chromosome Location	chr1:168338528-168342341
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:168341584-168341901	K562	blood:	n/a	n/a
2	ATF1	chr1:168342118-168342700	K562	blood:	n/a	n/a
3	BHLHE40	chr1:168338996-168339285	K562	blood:	n/a	n/a
4	BHLHE40	chr1:168341818-168342686	K562	blood:	n/a	n/a
5	CBX3	chr1:168341561-168342695	K562	blood:	n/a	n/a
6	CCNT2	chr1:168342245-168342534	K562	blood:	n/a	n/a
7	CEBPB	chr1:168342049-168342676	K562	blood:	n/a	n/a
8	CEBPD	chr1:168342121-168342789	K562	blood:	n/a	n/a
9	CEBPD	chr1:168342091-168342677	K562	blood:	n/a	n/a
10	CUX1	chr1:168341620-168341821	K562	blood:	n/a	n/a
11	ELF1	chr1:168342107-168342741	K562	blood:	n/a	n/a
12	EP300	chr1:168341527-168341920	K562	blood:	n/a	n/a
13	EP300	chr1:168342152-168342659	K562	blood:	n/a	n/a
14	EP300	chr1:168341637-168341793	K562	blood:	n/a	n/a
15	EP300	chr1:168338997-168339267	K562	blood:	n/a	n/a
16	GABPA	chr1:168339046-168339305	K562	blood:	n/a	n/a
17	GATA1	chr1:168341490-168342781	PBDE	blood:	n/a	chr1:168341840-168341847 chr1:168342173-168342182
18	GATA1	chr1:168341967-168342851	K562	blood:	n/a	chr1:168342173-168342182
19	GATA2	chr1:168341499-168341958	K562	blood:	n/a	chr1:168341840-168341847
20	GATA2	chr1:168338832-168339212	K562	blood:	n/a	chr1:168339062-168339072 chr1:168339063-168339072 chr1:168339063-168339070
21	GATA2	chr1:168341595-168342635	K562	blood:	n/a	chr1:168341840-168341847 chr1:168342173-168342182
22	GATA2	chr1:168342114-168342645	K562	blood:	n/a	chr1:168342173-168342182
23	HDAC2	chr1:168339043-168339286	K562	blood:	n/a	chr1:168339062-168339071
24	HMGN3	chr1:168342197-168342843	K562	blood:	n/a	n/a
25	JUN	chr1:168341532-168342592	K562	blood:	n/a	chr1:168342175-168342183 chr1:168342173-168342185
26	JUND	chr1:168341627-168342692	K562	blood:	n/a	chr1:168342175-168342183 chr1:168342173-168342185
27	MAFF	chr1:168342164-168342579	K562	blood:	n/a	n/a
28	MAFK	chr1:168342180-168342538	K562	blood:	n/a	n/a
29	MAX	chr1:168341560-168341952	K562	blood:	n/a	n/a
30	MAX	chr1:168341875-168342430	K562	blood:	n/a	chr1:168341961-168341970
31	MAZ	chr1:168341620-168341843	K562	blood:	n/a	n/a
32	MYC	chr1:168341247-168341285	H1-hESC	embryonic stem cell:	n/a	n/a
33	NR2F2	chr1:168341467-168342742	K562	blood:	n/a	n/a
34	NR2F2	chr1:168341990-168342702	K562	blood:	n/a	n/a
35	PML	chr1:168341615-168341963	K562	blood:	n/a	n/a
36	POLR2A	chr1:168339699-168339722	HepG2	liver:	n/a	n/a
37	POLR2A	chr1:168339542-168339605	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr1:168342139-168342494	K562	blood:	n/a	n/a
39	POLR2A	chr1:168342156-168342611	K562	blood:	n/a	n/a
40	RCOR1	chr1:168341533-168342699	K562	blood:	n/a	n/a
41	RCOR1	chr1:168341599-168342527	K562	blood:	n/a	n/a
42	REST	chr1:168338962-168339214	K562	blood:	n/a	chr1:168339173-168339186
43	SMC3	chr1:168341033-168341080	Hela-S3	cervix:	n/a	n/a
44	TAL1	chr1:168342177-168342703	K562	blood:	n/a	chr1:168342594-168342602
45	TAL1	chr1:168338874-168339277	K562	blood:	n/a	chr1:168339022-168339037 chr1:168339022-168339037 chr1:168339016-168339025 chr1:168339023-168339034
46	TAL1	chr1:168341545-168341920	K562	blood:	n/a	chr1:168341711-168341719
47	TBL1XR1	chr1:168342227-168342608	K562	blood:	n/a	n/a
48	TBL1XR1	chr1:168341514-168341681	K562	blood:	n/a	n/a
49	TBP	chr1:168341725-168341912	K562	blood:	n/a	n/a
50	TEAD4	chr1:168341616-168341933	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:168341145..168343864-chr1:168357058..168358969,2	K562	blood:
2	chr1:168338940..168340901-chr1:168341151..168343365,2	MCF-7	breast:
3	chr1:168338940..168340901-chr1:168341151..168343365,2	MCF-7	breast:
4	chr1:168187433..168189118-chr1:168341371..168344286,2	K562	blood:

Variant related genes	Relation type
MIR557	TF binding region

Extended variants
information (count: 159 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144443078	chr1:168338529-168338530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571879869	chr1:168338562-168338563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113103784	chr1:168338563-168338564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548368973	chr1:168338581-168338582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537607233	chr1:168338590-168338591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139050280	chr1:168338591-168338592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369006554	chr1:168338617-168338618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188153461	chr1:168338632-168338633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557251630	chr1:168338633-168338634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34961404	chr1:168338656-168338657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570813792	chr1:168338666-168338667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534667739	chr1:168338672-168338673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72701783	chr1:168338716-168338717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs568629626	chr1:168338722-168338723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17568826	chr1:168338742-168338743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
16	rs191519773	chr1:168338751-168338752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs80182332	chr1:168338758-168338759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111449956	chr1:168338842-168338843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112232601	chr1:168338878-168338879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558191074	chr1:168338907-168338908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576776771	chr1:168338930-168338931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540642729	chr1:168338938-168338939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533305980	chr1:168338956-168338957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2078197	chr1:168338962-168338963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs529929646	chr1:168339006-168339007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113537417	chr1:168339015-168339016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77331904	chr1:168339028-168339029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144065480	chr1:168339029-168339030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531066941	chr1:168339064-168339065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552711340	chr1:168339067-168339068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146452824	chr1:168339097-168339098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10918880	chr1:168339125-168339126	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546664967	chr1:168339164-168339165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568764974	chr1:168339165-168339166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535746500	chr1:168339202-168339203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73039773	chr1:168339206-168339207	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs569118490	chr1:168339238-168339239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539597733	chr1:168339241-168339242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558641736	chr1:168339251-168339252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544421812	chr1:168339289-168339290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12049486	chr1:168339356-168339357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6689124	chr1:168339397-168339398	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183897268	chr1:168339404-168339405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552670177	chr1:168339409-168339410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189516907	chr1:168339432-168339433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542136144	chr1:168339442-168339443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34405735	chr1:168339456-168339457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181576655	chr1:168339471-168339472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575510218	chr1:168339508-168339509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545991059	chr1:168339548-168339549	Weak transcription Enhancers	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168331200-168341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:168333200-168340800	Weak transcription	Right Atrium	heart
3	chr1:168336800-168341800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:168337200-168341600	Enhancers	K562	blood
5	chr1:168337400-168338800	Weak transcription	Fetal Intestine Large	intestine
6	chr1:168338000-168343000	Weak transcription	Aorta	Aorta
7	chr1:168338000-168343200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:168338200-168343400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:168338400-168348200	Weak transcription	HepG2	liver
10	chr1:168339200-168339400	Enhancers	Placenta	Placenta
11	chr1:168339400-168341400	Weak transcription	Placenta	Placenta
12	chr1:168339800-168340000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:168339800-168341000	Enhancers	Fetal Lung	lung
14	chr1:168340000-168341200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:168340200-168341400	Enhancers	Fetal Stomach	stomach
16	chr1:168340400-168340600	Enhancers	Right Ventricle	heart
17	chr1:168340400-168342200	Enhancers	Colon Smooth Muscle	Colon
18	chr1:168340400-168342200	Enhancers	Fetal Muscle Leg	muscle
19	chr1:168340600-168341200	Enhancers	Stomach Smooth Muscle	stomach
20	chr1:168340600-168341400	Weak transcription	Right Ventricle	heart
21	chr1:168340800-168342200	Enhancers	Rectal Smooth Muscle	rectum
22	chr1:168340800-168342600	Enhancers	Right Atrium	heart
23	chr1:168341000-168342000	Weak transcription	Fetal Lung	lung
24	chr1:168341200-168341400	Enhancers	Spleen	Spleen
25	chr1:168341200-168341600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:168341200-168342800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:168341400-168342200	Enhancers	Right Ventricle	heart
28	chr1:168341400-168342600	Enhancers	Placenta	Placenta
29	chr1:168341400-168342800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:168341600-168342000	Enhancers	Stomach Smooth Muscle	stomach
31	chr1:168341600-168342800	Enhancers	Fetal Heart	heart
32	chr1:168341600-168342800	Flanking Active TSS	K562	blood
33	chr1:168341800-168342200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:168341800-168342800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:168341800-168343400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr1:168342000-168342200	Enhancers	Spleen	Spleen
37	chr1:168342000-168342400	Enhancers	Fetal Lung	lung
38	chr1:168342000-168342600	Enhancers	Left Ventricle	heart
39	chr1:168342000-168343400	Enhancers	Primary hematopoietic stem cells	blood
40	chr1:168342200-168343800	Weak transcription	Right Ventricle	heart

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