Variant report

Variant	nsv947327
Chromosome Location	chr1:154067393-154086846
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:191)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:191 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:154076946-154077375	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr1:154076990-154077104	K562	blood:	n/a	n/a
3	CBX3	chr1:154070957-154071201	K562	blood:	n/a	n/a
4	CEBPB	chr1:154071082-154071123	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr1:154077000-154077150	MCF-7	breast:	n/a	n/a
6	CTCF	chr1:154077302-154077425	GM19240	blood:	n/a	n/a
7	CTCF	chr1:154076980-154077130	GM12870	blood:	n/a	n/a
8	CTCF	chr1:154077000-154077150	GM12875	blood:	n/a	n/a
9	CTCF	chr1:154077078-154077136	Fibrobl	skin:	n/a	n/a
10	CTCF	chr1:154077017-154077181	A549	lung:	n/a	n/a
11	CTCF	chr1:154077300-154077450	GM12864	blood:	n/a	n/a
12	CTCF	chr1:154077057-154077117	GM10266	blood:	n/a	n/a
13	CTCF	chr1:154077020-154077170	HCT-116	colon:	n/a	n/a
14	CTCF	chr1:154077040-154077190	MCF-7	breast:	n/a	n/a
15	CTCF	chr1:154077328-154077424	GM10248	blood:	n/a	n/a
16	CTCF	chr1:154077013-154077167	GM19240	blood:	n/a	n/a
17	CTCF	chr1:154077011-154077182	MCF-7	breast:	n/a	n/a
18	CTCF	chr1:154077040-154077190	GM12871	blood:	n/a	n/a
19	CTCF	chr1:154076908-154077480	K562	blood:	n/a	n/a
20	CTCF	chr1:154077000-154077150	HMEC	breast:	n/a	n/a
21	CTCF	chr1:154076740-154076890	GM06990	blood:	n/a	n/a
22	CTCF	chr1:154076860-154077622	MCF-7	breast:	n/a	n/a
23	CTCF	chr1:154077280-154077430	GM12871	blood:	n/a	n/a
24	CTCF	chr1:154077332-154077429	GM10266	blood:	n/a	n/a
25	CTCF	chr1:154077020-154077170	HepG2	liver:	n/a	n/a
26	CTCF	chr1:154077000-154077150	GM12867	blood:	n/a	n/a
27	CTCF	chr1:154077020-154077170	NHEK	skin:	n/a	n/a
28	CTCF	chr1:154077010-154077183	GM12892	blood:	n/a	n/a
29	CTCF	chr1:154076885-154077609	HCT-116	colon:	n/a	n/a
30	CTCF	chr1:154077240-154077390	HEEpiC	esophagus:	n/a	n/a
31	CTCF	chr1:154077236-154077470	MCF-7	breast:	n/a	n/a
32	CTCF	chr1:154077280-154077430	RPTEC	kidney:	n/a	n/a
33	CTCF	chr1:154076965-154077163	GM12891	blood:	n/a	n/a
34	CTCF	chr1:154077280-154077430	HEEpiC	esophagus:	n/a	n/a
35	CTCF	chr1:154076989-154077375	K562	blood:	n/a	n/a
36	CTCF	chr1:154076980-154077130	GM12872	blood:	n/a	n/a
37	CTCF	chr1:154077001-154077205	MCF-7	breast:	n/a	n/a
38	CTCF	chr1:154076987-154077484	MCF-7	breast:	n/a	n/a
39	CTCF	chr1:154077260-154077410	HMEC	breast:	n/a	n/a
40	CTCF	chr1:154077040-154077190	GM06990	blood:	n/a	n/a
41	CTCF	chr1:154077040-154077190	GM12873	blood:	n/a	n/a
42	CTCF	chr1:154077019-154077178	GM12878	blood:	n/a	n/a
43	CTCF	chr1:154077040-154077190	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr1:154077311-154077421	GM12878	blood:	n/a	n/a
45	CTCF	chr1:154076921-154077289	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr1:154077020-154077170	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr1:154077012-154077186	HepG2	liver:	n/a	n/a
48	CTCF	chr1:154077289-154077438	GM12891	blood:	n/a	n/a
49	CTCF	chr1:154077297-154077439	K562	blood:	n/a	n/a
50	CTCF	chr1:154076960-154077110	SK-N-SH_RA	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:154067602..154069364-chr1:154070769..154072717,2	K562	blood:
2	chr1:154067602..154069364-chr1:154070769..154072717,2	K562	blood:
3	chr1:154070276..154072411-chr1:154073394..154075388,2	K562	blood:
4	chr1:154070276..154072411-chr1:154073394..154075388,2	K562	blood:
5	chr1:154068921..154073059-chr1:154073326..154076408,3	MCF-7	breast:
6	chr1:154068921..154073059-chr1:154073326..154076408,3	MCF-7	breast:
7	chr1:154054884..154056832-chr1:154065709..154068314,2	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-5698	chr1:154077038-154077059	MIMAT0022491

No data

Variant related genes	Relation type
MIR5698	TF binding region

Extended variants
information (count: 324 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373248310	chr1:154067475-154067476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201264601	chr1:154067481-154067482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568372775	chr1:154067522-154067523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528494343	chr1:154067535-154067536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180784616	chr1:154067577-154067578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554544199	chr1:154067579-154067580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566483022	chr1:154067590-154067591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1416844	chr1:154067617-154067618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368926918	chr1:154067655-154067656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538555244	chr1:154067706-154067707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533866227	chr1:154067726-154067727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558343293	chr1:154067728-154067729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77106666	chr1:154067781-154067782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544382935	chr1:154067782-154067783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556501879	chr1:154067791-154067792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185650707	chr1:154069428-154069429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552199530	chr1:154069466-154069467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371383477	chr1:154069484-154069485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537924910	chr1:154069492-154069493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550028674	chr1:154069503-154069504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535777361	chr1:154069549-154069550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12403140	chr1:154069561-154069562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535259716	chr1:154069610-154069611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191148415	chr1:154069667-154069668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572197564	chr1:154069687-154069688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565760990	chr1:154069806-154069807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182467458	chr1:154069816-154069817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73010796	chr1:154069928-154069929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576160214	chr1:154069995-154069996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543533991	chr1:154070023-154070024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561815214	chr1:154070030-154070031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574188320	chr1:154070083-154070084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541221848	chr1:154070097-154070098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560043519	chr1:154070098-154070099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374416906	chr1:154070169-154070170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143664918	chr1:154070191-154070192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572900879	chr1:154070242-154070243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552236378	chr1:154070326-154070327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564049844	chr1:154070327-154070328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189116276	chr1:154070353-154070354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549916931	chr1:154070366-154070367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138328348	chr1:154070381-154070382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535639593	chr1:154070426-154070427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547270110	chr1:154070433-154070434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566003073	chr1:154070517-154070518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539329909	chr1:154070546-154070547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191826337	chr1:154070673-154070674	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs58300038	chr1:154070707-154070708	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537009821	chr1:154070768-154070769	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555446253	chr1:154070769-154070770	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	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
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	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
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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	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
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154067000-154067600	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr1:154067000-154067800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:154069400-154071000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:154070400-154070800	Enhancers	Psoas Muscle	Psoas
5	chr1:154070400-154071200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr1:154070600-154071200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr1:154071000-154071400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:154071400-154076800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:154076200-154076400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:154076400-154076800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:154076600-154077600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:154076800-154077400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:154076800-154077400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:154076800-154077600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:154076800-154077600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr1:154076800-154077600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:154077000-154077400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:154077000-154077600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:154077200-154077600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr1:154077200-154077600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:154077200-154077600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:154077200-154077800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:154078600-154079200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:154079200-154079400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:154086600-154087400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr1:154086800-154087600	Enhancers	Primary T cells from cord blood	blood
27	chr1:154086800-154087600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:154086800-154088200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:154086800-154088400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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