Variant report

Variant	esv3492277
Chromosome Location	chr9:136570246-136570690
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	POLR2A	chr9:136570664-136570868	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:136569675..136574254-chr9:136574982..136578726,4	K562	blood:
2	chr9:136401564..136404417-chr9:136570647..136572781,2	K562	blood:
3	chr9:136566081..136568880-chr9:136569767..136571624,2	MCF-7	breast:

Variant related genes	Relation type
SARDH	TF binding region
ENSG00000123453	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536425499	chr9:136570248-136570249	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs554404118	chr9:136570249-136570250	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566198153	chr9:136570335-136570336	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs115956579	chr9:136570348-136570349	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113833213	chr9:136570350-136570351	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369510153	chr9:136570392-136570393	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs62574386	chr9:136570437-136570438	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs111321613	chr9:136570442-136570443	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113068103	chr9:136570448-136570449	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs111487758	chr9:136570486-136570487	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs71867823	chr9:136570490-136570491	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs55646452	chr9:136570495-136570496	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs56989332	chr9:136570509-136570510	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs59345716	chr9:136570534-136570535	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112529482	chr9:136570539-136570540	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373231597	chr9:136570543-136570544	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs61232153	chr9:136570544-136570545	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs66666245	chr9:136570548-136570549	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs28380271	chr9:136570554-136570555	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs58238094	chr9:136570555-136570556	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113578735	chr9:136570558-136570559	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558086861	chr9:136570587-136570588	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs10993771	chr9:136570592-136570593	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10993772	chr9:136570601-136570602	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs113400953	chr9:136570604-136570605	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs544616932	chr9:136570629-136570630	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs188160088	chr9:136570651-136570652	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs35085391	chr9:136570680-136570681	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs11381123	chr9:136570681-136570682	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs397747780	chr9:136570684-136570685	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Hepatocellular carcinoma	22174799	CNVD
Bladder cancer	21909424	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136560800-136576400	Weak transcription	HepG2	liver
2	chr9:136564800-136575800	Strong transcription	Liver	Liver
3	chr9:136566800-136578200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr9:136567800-136571800	Weak transcription	HSMMtube	muscle
5	chr9:136568200-136572000	Weak transcription	Ovary	ovary
6	chr9:136568200-136576000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:136568200-136576000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:136568200-136577000	Weak transcription	Right Atrium	heart
9	chr9:136568200-136578400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:136568400-136571400	Weak transcription	Brain Anterior Caudate	brain
11	chr9:136568400-136571800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:136568400-136575600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr9:136568400-136577400	Weak transcription	Lung	lung
14	chr9:136568600-136571400	Weak transcription	Osteobl	bone
15	chr9:136568600-136572000	Weak transcription	NH-A	brain
16	chr9:136568600-136574200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr9:136568600-136574800	Weak transcription	HSMM	muscle
18	chr9:136568800-136571400	ZNF genes & repeats	Fetal Thymus	thymus
19	chr9:136568800-136574200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr9:136568800-136574200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr9:136569200-136571600	Weak transcription	Fetal Lung	lung
22	chr9:136569200-136572200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr9:136569200-136572400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:136569200-136574400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr9:136569200-136580800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr9:136569400-136570400	ZNF genes & repeats	Thymus	Thymus
27	chr9:136569400-136571800	Weak transcription	Primary B cells from cord blood	blood
28	chr9:136569400-136572200	Weak transcription	Fetal Brain Female	brain
29	chr9:136569400-136572400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr9:136569400-136574000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr9:136569600-136570400	Strong transcription	Pancreas	Pancrea
32	chr9:136569600-136572000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr9:136569600-136572800	Weak transcription	Brain Germinal Matrix	brain
34	chr9:136569600-136573800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr9:136569600-136574000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr9:136569600-136574000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr9:136569600-136574000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr9:136569600-136578600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:136569800-136571400	Weak transcription	Primary T cells from cord blood	blood
40	chr9:136569800-136571600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr9:136570000-136571400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr9:136570000-136571800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr9:136570000-136572000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr9:136570000-136572000	Weak transcription	Fetal Brain Male	brain
45	chr9:136570000-136572400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr9:136570000-136580200	Weak transcription	Spleen	Spleen
47	chr9:136570200-136571800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr9:136570200-136572400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr9:136570400-136570800	Weak transcription	Thymus	Thymus
50	chr9:136570400-136578800	Weak transcription	Pancreas	Pancrea

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