Variant report

Variant	nsv437033
Chromosome Location	chr7:150228695-150245988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:150235713-150235754	A549	lung:	n/a	n/a
2	CEBPB	chr7:150235726-150235766	K562	blood:	n/a	n/a
3	CTCF	chr7:150230289-150230303	GM12892	blood:	n/a	n/a
4	CTCF	chr7:150230209-150230280	K562	blood:	n/a	n/a
5	CTCF	chr7:150230194-150230279	GM12878	blood:	n/a	n/a
6	CTCF	chr7:150230180-150230330	GM12873	blood:	n/a	n/a
7	CTCF	chr7:150237030-150237048	Kidney_OC	kidney:	n/a	n/a
8	ELF1	chr7:150232962-150233283	GM12878	blood:	n/a	n/a
9	GATA3	chr7:150234359-150234555	SH-SY5Y	brain:	n/a	n/a
10	IRF3	chr7:150228978-150229025	GM12878	blood:	n/a	n/a
11	KAP1	chr7:150235403-150235711	HEK293	kidney:	n/a	n/a
12	REST	chr7:150235326-150235431	PANC-1	pancreas:	n/a	n/a
13	SETDB1	chr7:150228726-150229132	U2OS	brain:	n/a	n/a
14	SETDB1	chr7:150235298-150235762	U2OS	brain:	n/a	n/a
15	ZNF143	chr7:150228894-150229011	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150233184-150233234	NT2-D1	testis:	n/a
2	chr7:150232206-150232256	HL-60	blood:	n/a
3	chr7:150233184-150233234	A549	lung:	n/a
4	chr7:150233184-150233234	HUVEC	blood vessel:	n/a
5	chr7:150232206-150232256	ProgFib	skin:	n/a
6	chr7:150233184-150233234	AG04450	lung:	fetal
7	chr7:150232206-150232256	NHBE	bronchial:	n/a
8	chr7:150232206-150232256	HRCEpiC	kidney:	n/a
9	chr7:150232206-150232256	AoSMC	blood vessel:	n/a
10	chr7:150233184-150233234	GM19239	blood:	n/a
11	chr7:150232206-150232256	HIPEpiC	eye:	n/a
12	chr7:150232206-150232256	A549	lung:	n/a
13	chr7:150233184-150233234	HIPEpiC	eye:	n/a
14	chr7:150233184-150233234	PFSK-1	brain:	n/a
15	chr7:150232206-150232256	GM06990	blood:	n/a
16	chr7:150232206-150232256	Jurkat	blood:	n/a
17	chr7:150232206-150232256	GM12891	blood:	n/a
18	chr7:150233184-150233234	RPTEC	kidney:	n/a
19	chr7:150233184-150233234	AG10803	skin:	n/a
20	chr7:150232206-150232256	GM12892	blood:	n/a
21	chr7:150233184-150233234	NB4	blood:	n/a
22	chr7:150233184-150233234	SAEC	small airway:	n/a
23	chr7:150233184-150233234	NHDF-neo	bronchial:	n/a
24	chr7:150232206-150232256	HEEpiC	esophagus:	n/a
25	chr7:150232206-150232256	T-47D	breast:	n/a
26	chr7:150233184-150233234	GM12891	blood:	n/a
27	chr7:150233184-150233234	HCF	heart:	n/a
28	chr7:150232206-150232256	HUVEC	blood vessel:	n/a
29	chr7:150233184-150233234	GM12878	blood:	n/a
30	chr7:150233184-150233234	BE2_C	brain:	n/a
31	chr7:150233184-150233234	HCM	heart:	n/a
32	chr7:150233184-150233234	IMR90	lung:	fetal
33	chr7:150233184-150233234	HEK293	kidney:	embryo
34	chr7:150232206-150232256	IMR90	lung:	fetal
35	chr7:150232206-150232256	CMK	blood:	n/a
36	chr7:150232206-150232256	HPAEpiC	pulmonary alveolar:	n/a
37	chr7:150232206-150232256	HCF	heart:	n/a
38	chr7:150233184-150233234	BJ	skin:	n/a
39	chr7:150233184-150233234	Hepatocyte	liver:	n/a
40	chr7:150232206-150232256	HCM	heart:	n/a
41	chr7:150233184-150233234	AG09309	skin:	n/a
42	chr7:150233184-150233234	CMK	blood:	n/a
43	chr7:150232206-150232256	HMEC	breast:	n/a
44	chr7:150233184-150233234	SK-N-SH	brain:	n/a
45	chr7:150232206-150232256	HNPCEpiC	eye:	n/a
46	chr7:150232206-150232256	MCF-7	breast:	n/a
47	chr7:150232206-150232256	PANC-1	pancreas:	n/a
48	chr7:150232206-150232256	HEK293	kidney:	embryo
49	chr7:150233184-150233234	MCF-7	breast:	n/a
50	chr7:150232206-150232256	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150221183..150223870-chr7:150226440..150228746,2	K562	blood:
2	chr7:150232590..150235233-chr7:150277857..150280710,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GIMAP6-3	chr7:150238842-150239186	NONHSAT124143

No data

Variant related genes	Relation type
ALDH7A1P3	TF binding region
ALDH7A1P3	CpG island

Extended variants
information (count: 325 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:325 , 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	rs568874173	chr7:150230201-150230202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541290672	chr7:150230237-150230238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538110773	chr7:150230245-150230246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183396164	chr7:150230267-150230268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186598100	chr7:150230283-150230284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139396714	chr7:150230284-150230285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192502385	chr7:150230297-150230298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573300402	chr7:150230308-150230309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184835152	chr7:150230309-150230310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112228905	chr7:150230315-150230316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386719371	chr7:150230326-150230327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11979529	chr7:150230328-150230329	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544485814	chr7:150230343-150230344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188103081	chr7:150230367-150230368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530311189	chr7:150230393-150230394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546918502	chr7:150230436-150230437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560747429	chr7:150230452-150230453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532198173	chr7:150230453-150230454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552323744	chr7:150230466-150230467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113020471	chr7:150230495-150230496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77217919	chr7:150230500-150230501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561005016	chr7:150230628-150230629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372502460	chr7:150230652-150230653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537876247	chr7:150230662-150230663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548484645	chr7:150230681-150230682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568313589	chr7:150230690-150230691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10277380	chr7:150230692-150230693	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs372336585	chr7:150230694-150230695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553636415	chr7:150230738-150230739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115677113	chr7:150230743-150230744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73463320	chr7:150230764-150230765	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs558657591	chr7:150230810-150230811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138216424	chr7:150230855-150230856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111592805	chr7:150230914-150230915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539581667	chr7:150230939-150230940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561616982	chr7:150230942-150230943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150069356	chr7:150230959-150230960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73729316	chr7:150230970-150230971	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs560452609	chr7:150230971-150230972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141259820	chr7:150231007-150231008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552286752	chr7:150231008-150231009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562602160	chr7:150231037-150231038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531331266	chr7:150231042-150231043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145052847	chr7:150231047-150231048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571010864	chr7:150231086-150231087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372343012	chr7:150231099-150231100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533814668	chr7:150231144-150231145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7782053	chr7:150231165-150231166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35496043	chr7:150231175-150231176	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs117567506	chr7:150231209-150231210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150230200-150230600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr7:150230200-150231400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr7:150230400-150230600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:150230600-150234200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:150231400-150233000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr7:150233000-150233800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr7:150233200-150233600	Enhancers	Gastric	stomach
8	chr7:150233400-150236000	ZNF genes & repeats	Dnd41	blood
9	chr7:150234200-150236600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:150234800-150236200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr7:150235000-150236600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
12	chr7:150240800-150241000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--

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