Variant report

Variant	esv1826976
Chromosome Location	chr1:169207360-169241309
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169210444..169212042-chr1:169215118..169217438,2	K562	blood:
2	chr1:169201903..169204438-chr1:169206741..169208381,2	MCF-7	breast:
3	chr1:169192162..169194718-chr1:169212473..169215131,2	K562	blood:
4	chr1:169208518..169210284-chr1:169213594..169216583,2	K562	blood:
5	chr1:169208518..169210284-chr1:169213594..169216583,2	K562	blood:
6	chr1:169210444..169212042-chr1:169215118..169217438,2	K562	blood:
7	chr1:169210215..169210976-chr2:173891921..173892590,2	MCF-7	breast:

Extended variants
information (count: 1159 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1159 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386636619	chr1:169207360-169207361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7519279	chr1:169207361-169207362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs192290068	chr1:169207436-169207437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566047879	chr1:169207444-169207445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530174041	chr1:169207529-169207530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548275354	chr1:169207571-169207572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139595285	chr1:169207609-169207610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184289928	chr1:169207649-169207650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142872712	chr1:169207687-169207688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377689410	chr1:169207715-169207716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138287537	chr1:169207716-169207717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189559012	chr1:169207721-169207722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529296483	chr1:169207728-169207729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113063336	chr1:169207732-169207733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71299492	chr1:169207733-169207734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12738172	chr1:169207734-169207735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
17	rs146050672	chr1:169207749-169207750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570785181	chr1:169207754-169207755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189188137	chr1:169207767-169207768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74125219	chr1:169207828-169207829	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10489417	chr1:169207838-169207839	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs35110010	chr1:169207868-169207869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573153685	chr1:169207932-169207933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542597910	chr1:169207967-169207968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554712977	chr1:169207984-169207985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576171072	chr1:169208003-169208004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192857685	chr1:169208011-169208012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184053965	chr1:169208017-169208018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532726032	chr1:169208031-169208032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368379464	chr1:169208039-169208040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs67214318	chr1:169208048-169208049	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs530111907	chr1:169208117-169208118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548140254	chr1:169208178-169208179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2227246	chr1:169208179-169208180	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs188881199	chr1:169208197-169208198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139698344	chr1:169208223-169208224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12072082	chr1:169208271-169208272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368722748	chr1:169208282-169208283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571405219	chr1:169208324-169208325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538597135	chr1:169208340-169208341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12061405	chr1:169208368-169208369	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs565794185	chr1:169208432-169208433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149733513	chr1:169208437-169208438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554577428	chr1:169208479-169208480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576230895	chr1:169208540-169208541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537124566	chr1:169208622-169208623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs28676800	chr1:169208637-169208638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558923795	chr1:169208671-169208672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577364378	chr1:169208674-169208675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371336129	chr1:169208759-169208760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169172400-169207600	Weak transcription	Esophagus	oesophagus
2	chr1:169172600-169227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:169177400-169207400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:169180000-169210000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:169184800-169207400	Weak transcription	Ovary	ovary
6	chr1:169187600-169207800	Weak transcription	Primary T cells from cord blood	blood
7	chr1:169187800-169211800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:169192200-169209600	Weak transcription	NHEK	skin
9	chr1:169192400-169210000	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:169194000-169210000	Weak transcription	NHDF-Ad	bronchial
11	chr1:169194800-169207400	Weak transcription	Primary B cells from cord blood	blood
12	chr1:169194800-169214000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:169195200-169207600	Weak transcription	Fetal Lung	lung
14	chr1:169195400-169207600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:169197200-169207600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:169197200-169210200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:169197600-169210200	Weak transcription	Brain Substantia Nigra	brain
18	chr1:169198000-169209800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:169199200-169210200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:169199200-169211600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:169199600-169209800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:169201000-169207800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:169201000-169212800	Weak transcription	Psoas Muscle	Psoas
24	chr1:169202400-169208800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:169205200-169209800	Weak transcription	HUVEC	blood vessel
26	chr1:169205600-169207600	Weak transcription	Fetal Heart	heart
27	chr1:169205600-169207600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:169205800-169207800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:169206200-169208000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:169206400-169207600	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:169206400-169209600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:169206600-169210000	Weak transcription	HMEC	breast
33	chr1:169206800-169209800	Weak transcription	Liver	Liver
34	chr1:169207400-169207600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:169207400-169208000	Enhancers	Ovary	ovary
36	chr1:169207400-169208400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:169207600-169207800	Enhancers	Esophagus	oesophagus
38	chr1:169207600-169208000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:169207600-169208000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr1:169207600-169208200	Enhancers	Fetal Heart	heart
41	chr1:169207600-169209200	Enhancers	Colon Smooth Muscle	Colon
42	chr1:169207600-169209800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:169207800-169208200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr1:169208000-169208200	Enhancers	Rectal Smooth Muscle	rectum
45	chr1:169208000-169209800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:169208000-169210200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:169208000-169214400	Weak transcription	Ovary	ovary
48	chr1:169208200-169208400	Enhancers	Osteobl	bone
49	chr1:169208200-169208600	Weak transcription	Fetal Heart	heart
50	chr1:169208200-169208600	Weak transcription	Rectal Smooth Muscle	rectum

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