Variant report

Variant	esv3410440
Chromosome Location	chr1:239329960-239356515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:239347033..239349872-chr1:239353047..239355159,2	K562	blood:
2	chr1:239347033..239349872-chr1:239353047..239355159,2	K562	blood:
3	chr1:239338540..239340402-chr1:239341130..239343187,2	K562	blood:
4	chr1:239338540..239340402-chr1:239341130..239343187,2	K562	blood:

Extended variants
information (count: 798 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:798 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115119275	chr1:239330818-239330819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530438264	chr1:239330831-239330832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28584986	chr1:239330848-239330849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56381968	chr1:239330887-239330888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562136455	chr1:239330913-239330914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147951077	chr1:239330924-239330925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73106132	chr1:239330926-239330927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567056201	chr1:239330938-239330939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs55874128	chr1:239330950-239330951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs552292195	chr1:239330994-239330995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540116672	chr1:239331031-239331032	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs551721822	chr1:239331037-239331038	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs570506844	chr1:239331058-239331059	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs569891771	chr1:239331083-239331084	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs185106697	chr1:239331154-239331155	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs61401098	chr1:239331155-239331156	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189525523	chr1:239331158-239331159	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs371746450	chr1:239331164-239331165	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs12562059	chr1:239331179-239331180	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs144898815	chr1:239331200-239331201	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs536571504	chr1:239331210-239331211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563367315	chr1:239331215-239331216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61443270	chr1:239331251-239331252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs113964224	chr1:239331264-239331265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151178303	chr1:239331275-239331276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370044421	chr1:239331297-239331298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375577562	chr1:239331302-239331303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547515336	chr1:239331331-239331332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559683814	chr1:239331374-239331375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76788422	chr1:239331382-239331383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199939660	chr1:239331383-239331384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76093307	chr1:239331385-239331386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71166852	chr1:239331398-239331399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61834643	chr1:239331419-239331420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs540321889	chr1:239331434-239331435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140329754	chr1:239331445-239331446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77087857	chr1:239331467-239331468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537255038	chr1:239331534-239331535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549116149	chr1:239331551-239331552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567065994	chr1:239331611-239331612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534710140	chr1:239331720-239331721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183435381	chr1:239331733-239331734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373133424	chr1:239331734-239331735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576887151	chr1:239331799-239331800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145473931	chr1:239331820-239331821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543827528	chr1:239331824-239331825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557310252	chr1:239331835-239331836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368675992	chr1:239331838-239331839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575571235	chr1:239331851-239331852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187716997	chr1:239331858-239331859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239330800-239333400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:239331000-239331200	ZNF genes & repeats	Liver	Liver
3	chr1:239331000-239331200	Active TSS	Fetal Muscle Trunk	muscle
4	chr1:239331200-239341800	Weak transcription	Liver	Liver
5	chr1:239336000-239336600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr1:239339200-239339400	Enhancers	Colon Smooth Muscle	Colon
7	chr1:239339400-239341400	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:239340200-239340400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:239340400-239341400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:239341200-239342600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:239341400-239341600	Enhancers	Colon Smooth Muscle	Colon
12	chr1:239341400-239342600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:239341600-239342000	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:239341800-239342800	Enhancers	Liver	Liver
15	chr1:239342000-239342400	Enhancers	Colon Smooth Muscle	Colon
16	chr1:239342000-239342400	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:239342000-239342800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:239342800-239347000	Weak transcription	Liver	Liver
19	chr1:239345200-239345600	Enhancers	Fetal Kidney	kidney
20	chr1:239345600-239345800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:239345800-239350800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:239346600-239347200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:239347000-239348000	Enhancers	Liver	Liver
24	chr1:239347200-239348000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:239347200-239350800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:239347800-239348800	Enhancers	Fetal Intestine Small	intestine
27	chr1:239347800-239349200	Enhancers	HMEC	breast
28	chr1:239348000-239348200	Flanking Active TSS	Liver	Liver
29	chr1:239348000-239348400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:239348000-239349200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:239348200-239350000	Active TSS	Liver	Liver
32	chr1:239348400-239349200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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