Variant report

Variant	nsv971498
Chromosome Location	chr7:126497328-126519764
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	chr7:126509086-126509186	K562	blood:	n/a	n/a
2	CEBPB	chr7:126516526-126516933	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr7:126513084-126513338	HepG2	liver:	n/a	chr7:126513180-126513191
4	CEBPB	chr7:126512782-126513296	A549	lung:	n/a	chr7:126513180-126513191 chr7:126513051-126513062
5	CTCF	chr7:126516058-126516103	GM13976	blood:	n/a	n/a
6	CTCF	chr7:126497200-126497350	GM12872	blood:	n/a	n/a
7	CTCF	chr7:126518393-126518468	Lung_OC	lung:	n/a	n/a
8	E2F4	chr7:126497669-126497864	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr7:126516665-126516869	Hela-S3	cervix:	n/a	chr7:126516804-126516813
10	FAM48A	chr7:126503051-126503198	GM12878	blood:	n/a	n/a
11	GATA2	chr7:126518124-126518572	K562	blood:	n/a	n/a
12	GATA2	chr7:126515721-126516156	K562	blood:	n/a	n/a
13	HEY1	chr7:126518298-126518493	K562	blood:	n/a	n/a
14	MXI1	chr7:126502517-126502633	K562	blood:	n/a	n/a
15	MYC	chr7:126502384-126502606	MCF10A-Er-Src	breast:	n/a	n/a
16	MYC	chr7:126513593-126513633	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr7:126500081-126500269	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr7:126518290-126518548	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr7:126507271-126507506	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr7:126512523-126512693	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr7:126508141-126508405	MCF-7	breast:	n/a	n/a
22	RAD21	chr7:126496180-126497369	SK-N-SH	brain:	n/a	chr7:126496915-126496934
23	RFX5	chr7:126514266-126514453	K562	blood:	n/a	n/a
24	SIX5	chr7:126518285-126518546	K562	blood:	n/a	n/a
25	STAT3	chr7:126502916-126503070	MCF10A-Er-Src	breast:	n/a	n/a
26	USF1	chr7:126518332-126518508	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:126496786..126498746-chr7:126500529..126502173,2	MCF-7	breast:
2	chr7:126483492..126485257-chr7:126496192..126497874,2	K562	blood:
3	chr7:126496786..126498746-chr7:126500529..126502173,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF800-7	chr7:126508821-126510586	NONHSAT123122

Variant related genes	Relation type
ENSG00000224981	TF binding region

Extended variants
information (count: 306 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:306 , 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	rs576945100	chr7:126497468-126497469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181607855	chr7:126497518-126497519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545901201	chr7:126497530-126497531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561044179	chr7:126497568-126497569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531760962	chr7:126497605-126497606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575206465	chr7:126497682-126497683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571925622	chr7:126497683-126497684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532668759	chr7:126497704-126497705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10225203	chr7:126497762-126497763	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs143709095	chr7:126497775-126497776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536829087	chr7:126497810-126497811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555544852	chr7:126497845-126497846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567345096	chr7:126497875-126497876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537878711	chr7:126497901-126497902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151047466	chr7:126497925-126497926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577889274	chr7:126497947-126497948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544927786	chr7:126497957-126497958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117353425	chr7:126497967-126497968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140927398	chr7:126497979-126497980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528175563	chr7:126498024-126498025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542393576	chr7:126498028-126498029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs59643816	chr7:126498041-126498042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561080843	chr7:126498081-126498082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79418227	chr7:126498086-126498087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370339616	chr7:126498110-126498111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543823123	chr7:126498114-126498115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184855139	chr7:126498184-126498185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs80254577	chr7:126498211-126498212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2283080	chr7:126498232-126498233	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188549804	chr7:126498261-126498262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181213054	chr7:126498294-126498295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79310800	chr7:126498345-126498346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2283081	chr7:126498385-126498386	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537514323	chr7:126498391-126498392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533225927	chr7:126498436-126498437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376716500	chr7:126498455-126498456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74522953	chr7:126498553-126498554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150185742	chr7:126498559-126498560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139365197	chr7:126498567-126498568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553679497	chr7:126498573-126498574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141813810	chr7:126498574-126498575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73228923	chr7:126498619-126498620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535470511	chr7:126498707-126498708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554317011	chr7:126498737-126498738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185433410	chr7:126498738-126498739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543514704	chr7:126498748-126498749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565372820	chr7:126498756-126498757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116166591	chr7:126498803-126498804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147088667	chr7:126498845-126498846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138473093	chr7:126498881-126498882	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Attention deficit hyperactivity disorder	22138692	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126496600-126497400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr7:126496600-126497400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:126496600-126497400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:126496800-126497400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:126496800-126498600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:126497000-126497400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:126497000-126497400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:126497000-126497400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:126497000-126497800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr7:126497400-126498400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:126497400-126498600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:126497400-126498600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:126497400-126498600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:126498600-126498800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:126498600-126498800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:126498800-126499000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:126498800-126499000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:126498800-126499000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:126508200-126508400	Enhancers	Pancreas	Pancrea
20	chr7:126513600-126513800	Enhancers	Small Intestine	intestine
21	chr7:126516200-126517000	Enhancers	Hela-S3	cervix
22	chr7:126517000-126521400	Weak transcription	Hela-S3	cervix

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