Variant report

Variant	esv3477724
Chromosome Location	chr7:100331016-100336214
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	chr7:100334240-100334390	HepG2	liver:	n/a	n/a
2	HNF4A	chr7:100334443-100334631	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:100335245-100335321	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:100334700-100334719	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:100331776-100331843	K562	blood:	n/a	n/a
6	POLR2A	chr7:100334514-100334693	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:100334504-100334656	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100336156..100338514-chr7:100343827..100346025,2	K562	blood:

Variant related genes	Relation type
ZAN	TF binding region

Extended variants
information (count: 195 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571898920	chr7:100331024-100331025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539012298	chr7:100331051-100331052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554897471	chr7:100331052-100331053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565967373	chr7:100331093-100331094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536465048	chr7:100331103-100331104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76932668	chr7:100331201-100331202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73711150	chr7:100331276-100331277	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs193119630	chr7:100331284-100331285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537413645	chr7:100331299-100331300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185539630	chr7:100331302-100331303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573313239	chr7:100331430-100331431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117726678	chr7:100331456-100331457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545354109	chr7:100331492-100331493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145136492	chr7:100331499-100331500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572240051	chr7:100331559-100331560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs36081558	chr7:100331573-100331574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370510188	chr7:100331585-100331586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560998133	chr7:100331586-100331587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs5886131	chr7:100331683-100331684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374203981	chr7:100331718-100331719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531345395	chr7:100331765-100331766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543402314	chr7:100331766-100331767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564756369	chr7:100331794-100331795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377089635	chr7:100331814-100331815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12673246	chr7:100331837-100331838	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs35738907	chr7:100331841-100331842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373557646	chr7:100331867-100331868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189199600	chr7:100331930-100331931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566055417	chr7:100331972-100331973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545219717	chr7:100331978-100331979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530188797	chr7:100331991-100331992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548386702	chr7:100331994-100331995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570128551	chr7:100332008-100332009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537174540	chr7:100332009-100332010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558894387	chr7:100332017-100332018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570719137	chr7:100332025-100332026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535036029	chr7:100332079-100332080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371895005	chr7:100332099-100332100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113861900	chr7:100332122-100332123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180682002	chr7:100332133-100332134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183769838	chr7:100332173-100332174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563423533	chr7:100332219-100332220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542833156	chr7:100332228-100332229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530875875	chr7:100332229-100332230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528460358	chr7:100332249-100332250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188832293	chr7:100332250-100332251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374514484	chr7:100332251-100332252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148340170	chr7:100332270-100332271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565007512	chr7:100332325-100332326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141523101	chr7:100332367-100332368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100319200-100342800	Weak transcription	Right Atrium	heart
2	chr7:100323800-100334400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:100325400-100333000	Weak transcription	Liver	Liver
4	chr7:100329200-100334400	Enhancers	HepG2	liver
5	chr7:100329600-100331200	Enhancers	Primary B cells from cord blood	blood
6	chr7:100331400-100331800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:100331400-100331800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:100331400-100332000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:100331600-100332000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:100333000-100334200	Enhancers	Liver	Liver
11	chr7:100334200-100334400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:100334200-100334800	Enhancers	Fetal Intestine Large	intestine
13	chr7:100334400-100334600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:100334400-100334800	Flanking Active TSS	HepG2	liver
15	chr7:100334400-100335000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:100334800-100335000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:100334800-100335000	Active TSS	HepG2	liver
18	chr7:100335000-100336000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:100335000-100336000	Weak transcription	HepG2	liver
20	chr7:100336000-100337400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:100336000-100337600	Enhancers	HepG2	liver

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