Variant report

Variant	esv3409649
Chromosome Location	chr7:99406566-99413964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr7:99407124-99407347	HepG2	liver:	n/a	n/a
2	FOXA2	chr7:99406967-99407638	A549	lung:	n/a	n/a
3	FOXA2	chr7:99407111-99407504	A549	lung:	n/a	n/a
4	NFYB	chr7:99406463-99406580	K562	blood:	n/a	n/a
5	POLR2A	chr7:99407178-99407259	MCF-7	breast:	n/a	n/a
6	SPI1	chr7:99406503-99406776	HL-60	blood:	n/a	n/a
7	SPI1	chr7:99406441-99406658	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:99412647..99414218-chr7:99422343..99425321,2	K562	blood:
2	chr7:99389616..99391219-chr7:99413108..99414812,2	K562	blood:
3	chr7:99412647..99414834-chr7:99418684..99423843,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261511	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536149833	chr7:99406585-99406586	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568839792	chr7:99406597-99406598	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557712098	chr7:99406617-99406618	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187962339	chr7:99406635-99406636	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546194539	chr7:99406645-99406646	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77491929	chr7:99406673-99406674	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573250434	chr7:99406692-99406693	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183792707	chr7:99406722-99406723	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188102261	chr7:99406750-99406751	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143287958	chr7:99406776-99406777	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143036083	chr7:99406802-99406803	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563206890	chr7:99406809-99406810	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530735385	chr7:99406854-99406855	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113206063	chr7:99406855-99406856	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551707967	chr7:99406859-99406860	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10227100	chr7:99406865-99406866	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs58108281	chr7:99406877-99406878	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534704379	chr7:99406885-99406886	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200326784	chr7:99406895-99406896	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141220024	chr7:99406960-99406961	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568614685	chr7:99406969-99406970	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536088404	chr7:99406977-99406978	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557612074	chr7:99406987-99406988	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374225107	chr7:99406989-99406990	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575963085	chr7:99407049-99407050	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567652571	chr7:99407075-99407076	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558124730	chr7:99407078-99407079	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573204898	chr7:99407092-99407093	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540701102	chr7:99407093-99407094	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562075514	chr7:99407097-99407098	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573811961	chr7:99407128-99407129	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541596472	chr7:99407140-99407141	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563143996	chr7:99407141-99407142	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192786091	chr7:99407148-99407149	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs28407276	chr7:99407202-99407203	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs564103481	chr7:99407218-99407219	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs28412609	chr7:99407257-99407258	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs528101067	chr7:99407261-99407262	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs28782238	chr7:99407286-99407287	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs371607768	chr7:99407315-99407316	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs566748276	chr7:99407330-99407331	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs376170212	chr7:99407335-99407336	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99404400-99407000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:99406000-99406600	Enhancers	Dnd41	blood
3	chr7:99406400-99406800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:99406400-99407400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:99406600-99407400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:99406800-99407400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:99407000-99407200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:99407000-99407400	Active TSS	H9 Cell Line	embryonic stem cell

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