Variant report

Variant	esv3419750
Chromosome Location	chr7:150187119-150191617
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	CTCF	chr7:150187425-150187463	GM10248	blood:	n/a	n/a
2	CTCF	chr7:150188931-150188975	Pancreas_OC	pancreas:	n/a	n/a
3	JUN	chr7:150190155-150190207	K562	blood:	n/a	n/a
4	SPI1	chr7:150187723-150187863	K562	blood:	n/a	n/a
5	SPI1	chr7:150187656-150187884	GM12891	blood:	n/a	n/a
6	SPI1	chr7:150187717-150187842	GM12878	blood:	n/a	n/a
7	SPI1	chr7:150186969-150187261	GM12891	blood:	n/a	chr7:150187122-150187131
8	SPI1	chr7:150187625-150187875	GM12891	blood:	n/a	n/a
9	SPI1	chr7:150187670-150187865	K562	blood:	n/a	n/a
10	SPI1	chr7:150187652-150187875	GM12878	blood:	n/a	n/a
11	SPI1	chr7:150186963-150187188	GM12878	blood:	n/a	chr7:150187122-150187131
12	SPI1	chr7:150186931-150187220	GM12891	blood:	n/a	chr7:150187122-150187131
13	SPI1	chr7:150186840-150187343	HL-60	blood:	n/a	chr7:150187122-150187131

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150168329..150170733-chr7:150189795..150191535,2	K562	blood:

Variant related genes	Relation type
ENSG00000271582	TF binding region

Extended variants
information (count: 236 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:236 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555912944	chr7:150187135-150187136	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs552757489	chr7:150187143-150187144	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs568563620	chr7:150187149-150187150	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs191183575	chr7:150187222-150187223	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs2222524	chr7:150187245-150187246	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs6943537	chr7:150187254-150187255	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs534071300	chr7:150187265-150187266	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115009624	chr7:150187313-150187314	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182985498	chr7:150187319-150187320	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545653347	chr7:150187343-150187344	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556397679	chr7:150187345-150187346	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558222043	chr7:150187354-150187355	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186566554	chr7:150187357-150187358	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561267020	chr7:150187368-150187369	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530069690	chr7:150187382-150187383	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190480181	chr7:150187385-150187386	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560592927	chr7:150187413-150187414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527998121	chr7:150187421-150187422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532842916	chr7:150187458-150187459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139027318	chr7:150187475-150187476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569147352	chr7:150187492-150187493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183090333	chr7:150187517-150187518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547909875	chr7:150187569-150187570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34033307	chr7:150187580-150187581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56290109	chr7:150187581-150187582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553753672	chr7:150187626-150187627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192456538	chr7:150187680-150187681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35977714	chr7:150187704-150187705	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs539731123	chr7:150187746-150187747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556385537	chr7:150187759-150187760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576354821	chr7:150187769-150187770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544698042	chr7:150187797-150187798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555063199	chr7:150187799-150187800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574895339	chr7:150187837-150187838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184190473	chr7:150187844-150187845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560545409	chr7:150187863-150187864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56338308	chr7:150187884-150187885	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187572505	chr7:150187895-150187896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141898380	chr7:150187908-150187909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200864601	chr7:150187912-150187913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75422506	chr7:150187950-150187951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs192813411	chr7:150187998-150187999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139161703	chr7:150188002-150188003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376030408	chr7:150188043-150188044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547039180	chr7:150188053-150188054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570470584	chr7:150188110-150188111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370483676	chr7:150188124-150188125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539744078	chr7:150188143-150188144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550130374	chr7:150188205-150188206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569852474	chr7:150188255-150188256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150180400-150199000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:150181400-150188200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr7:150181800-150187200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr7:150182400-150187400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr7:150184200-150188000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr7:150184400-150187400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr7:150185000-150193200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr7:150186200-150192800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:150187000-150187400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr7:150187400-150187600	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr7:150187400-150192800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:150187600-150188200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr7:150188200-150188400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr7:150188200-150191800	Weak transcription	Primary monocytes fromperipheralblood	blood

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