Variant report

Variant	esv3324263
Chromosome Location	chr1:196448613-196449465
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:196448856..196453298-chr1:196454594..196458706,6	K562	blood:
2	chr1:196448595..196456381-chr1:196458214..196462920,9	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144524372	chr1:196448626-196448627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386638235	chr1:196448627-196448628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200029814	chr1:196448628-196448629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376428619	chr1:196448629-196448630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59335616	chr1:196448631-196448632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202151843	chr1:196448635-196448636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200152327	chr1:196448636-196448637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556763483	chr1:196448673-196448674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76720656	chr1:196448676-196448677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78144242	chr1:196448693-196448694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569774886	chr1:196448696-196448697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377272887	chr1:196448699-196448700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528390484	chr1:196448711-196448712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546626134	chr1:196448712-196448713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561910969	chr1:196448756-196448757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11418691	chr1:196448763-196448764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111602955	chr1:196448767-196448768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142423948	chr1:196448768-196448769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568626426	chr1:196448833-196448834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535328605	chr1:196448846-196448847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77270150	chr1:196448859-196448860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112467541	chr1:196448876-196448877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528328559	chr1:196448926-196448927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540127250	chr1:196448936-196448937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561593960	chr1:196448998-196448999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534495135	chr1:196449057-196449058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555817280	chr1:196449062-196449063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574266198	chr1:196449085-196449086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538465245	chr1:196449096-196449097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537290354	chr1:196449139-196449140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578153569	chr1:196449147-196449148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10801540	chr1:196449162-196449163	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs10801541	chr1:196449206-196449207	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572390362	chr1:196449259-196449260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200040206	chr1:196449261-196449262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183111498	chr1:196449329-196449330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10801542	chr1:196449340-196449341	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs544009983	chr1:196449345-196449346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562195255	chr1:196449356-196449357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377125730	chr1:196449382-196449383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139422951	chr1:196449388-196449389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371083755	chr1:196449419-196449420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559383156	chr1:196449423-196449424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188357630	chr1:196449432-196449433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196420000-196460800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:196429200-196450400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:196434200-196450200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:196434200-196459200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:196434600-196450200	Weak transcription	Liver	Liver
6	chr1:196434600-196459600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:196436400-196451000	Weak transcription	Fetal Stomach	stomach
8	chr1:196436400-196485200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:196437400-196467800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:196447400-196458200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:196447800-196451200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:196447800-196468000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:196448400-196457600	Weak transcription	Fetal Kidney	kidney
14	chr1:196448800-196452200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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