Variant report

Variant	esv3406540
Chromosome Location	chr1:195794129-195798427
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	chr1:195797258..195800617-chr1:195801133..195805279,5	K562	blood:
2	chr1:195793131..195796113-chr1:195827514..195829536,2	K562	blood:

Extended variants
information (count: 185 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:185 , 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	rs551857684	chr1:195794129-195794130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140188017	chr1:195794136-195794137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145600165	chr1:195794195-195794196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546794857	chr1:195794225-195794226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10921925	chr1:195794286-195794287	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs75934980	chr1:195794313-195794314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550645370	chr1:195794356-195794357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568785497	chr1:195794361-195794362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564568675	chr1:195794383-195794384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10921926	chr1:195794444-195794445	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs117875860	chr1:195794445-195794446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35594458	chr1:195794482-195794483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572627900	chr1:195794499-195794500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186346634	chr1:195794502-195794503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10921927	chr1:195794518-195794519	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs59797206	chr1:195794609-195794610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs377392125	chr1:195794632-195794633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189996741	chr1:195794716-195794717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563044596	chr1:195794723-195794724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578045108	chr1:195794749-195794750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535465834	chr1:195794754-195794755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545439899	chr1:195794764-195794765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200633875	chr1:195794802-195794803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560498026	chr1:195794807-195794808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527769887	chr1:195794810-195794811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542158563	chr1:195794811-195794812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117252623	chr1:195794822-195794823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114688076	chr1:195794832-195794833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200362309	chr1:195794847-195794848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4393138	chr1:195794851-195794852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs199759652	chr1:195794887-195794888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141812036	chr1:195794888-195794889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200575880	chr1:195794890-195794891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550808802	chr1:195794898-195794899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569075170	chr1:195794899-195794900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532741116	chr1:195794900-195794901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544228220	chr1:195794920-195794921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550941399	chr1:195794932-195794933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201387056	chr1:195794957-195794958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566167481	chr1:195794958-195794959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533633969	chr1:195794982-195794983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4504871	chr1:195794983-195794984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs567801544	chr1:195794987-195794988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538070722	chr1:195795053-195795054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34931213	chr1:195795087-195795088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572875722	chr1:195795119-195795120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556787321	chr1:195795132-195795133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570006529	chr1:195795133-195795134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558294758	chr1:195795135-195795136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115812313	chr1:195795180-195795181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Melanoma	20688739	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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195793400-195794400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:195793600-195794200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr1:195793800-195794400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:195793800-195794400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr1:195793800-195794400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:195793800-195794400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:195793800-195794600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:195794000-195794400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:195794200-195800400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:195794400-195796800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:195794400-195797200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:195794400-195797400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:195794400-195797400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:195794400-195797400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:195794400-195797600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:195794600-195797800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:195796800-195798200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:195796800-195798400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:195797200-195797800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:195797400-195797800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:195797400-195797800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:195797400-195797800	Enhancers	HMEC	breast
23	chr1:195797400-195798000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:195797400-195798200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr1:195797400-195798200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:195797400-195798600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:195797600-195798200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:195797800-195798200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:195797800-195800400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:195798000-195800600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:195798200-195800200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:195798200-195800200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:195798200-195800400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr1:195798200-195800400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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