Variant report

Variant	esv3425585
Chromosome Location	chr7:102694588-102695449
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	TAL1	chr7:102695067-102695221	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102694258..102697387-chr7:102697873..102700053,4	K562	blood:
2	chr7:102692413..102696625-chr7:102698429..102700505,5	K562	blood:

Variant related genes	Relation type
FBXL13	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562173916	chr7:102694594-102694595	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138765154	chr7:102694600-102694601	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373642147	chr7:102694601-102694602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6150260	chr7:102694602-102694603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386716338	chr7:102694603-102694604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371043764	chr7:102694604-102694605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3046436	chr7:102694605-102694606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369344010	chr7:102694629-102694630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533430811	chr7:102694630-102694631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551993669	chr7:102694674-102694675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552359324	chr7:102694698-102694699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566949514	chr7:102694719-102694720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113246436	chr7:102694745-102694746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550450909	chr7:102694761-102694762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538373256	chr7:102694792-102694793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185975587	chr7:102694794-102694795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567340873	chr7:102694820-102694821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537867853	chr7:102694828-102694829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371424575	chr7:102694831-102694832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191578004	chr7:102694833-102694834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs5886240	chr7:102694837-102694838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60493703	chr7:102694838-102694839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76850819	chr7:102694854-102694855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4576360	chr7:102694865-102694866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553983822	chr7:102694914-102694915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10564998	chr7:102694951-102694952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182572332	chr7:102694954-102694955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6968109	chr7:102695026-102695027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562065762	chr7:102695067-102695068	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs373700871	chr7:102695069-102695070	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs187228735	chr7:102695097-102695098	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs544233605	chr7:102695123-102695124	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs562533801	chr7:102695195-102695196	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs571734056	chr7:102695200-102695201	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs140055286	chr7:102695245-102695246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199617567	chr7:102695303-102695304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545381651	chr7:102695344-102695345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560803874	chr7:102695375-102695376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527901036	chr7:102695400-102695401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102679200-102713800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:102683400-102695800	Weak transcription	Fetal Kidney	kidney
3	chr7:102684200-102708000	Weak transcription	Pancreas	Pancrea
4	chr7:102691400-102698400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:102691400-102701800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:102691600-102696200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:102692200-102696000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:102692800-102698800	Weak transcription	Thymus	Thymus
9	chr7:102692800-102712800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:102693200-102695600	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:102693800-102698400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:102694000-102694600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:102694000-102694800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:102694000-102698200	Weak transcription	Fetal Thymus	thymus
15	chr7:102694200-102694600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr7:102694200-102694600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:102694400-102698200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:102694600-102697200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:102694800-102702000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:102695400-102700200	Weak transcription	Aorta	Aorta

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