Variant report

Variant	esv1821635
Chromosome Location	chr1:210068117-210085756
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210077721..210079248-chr1:210084762..210086473,2	MCF-7	breast:
2	chr1:210077721..210079248-chr1:210084762..210086473,2	MCF-7	breast:
3	chr1:210062213..210064340-chr1:210071248..210073930,2	K562	blood:

Extended variants
information (count: 426 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4844913	chr1:210068117-210068118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185081526	chr1:210068178-210068179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140205187	chr1:210068217-210068218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73095725	chr1:210068219-210068220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545710228	chr1:210068225-210068226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111939457	chr1:210068226-210068227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76058747	chr1:210068227-210068228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533934055	chr1:210068259-210068260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547079704	chr1:210068267-210068268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561050270	chr1:210068324-210068325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77423385	chr1:210068396-210068397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188979155	chr1:210068413-210068414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559547085	chr1:210068493-210068494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78270913	chr1:210068505-210068506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10532875	chr1:210068511-210068512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112062444	chr1:210068512-210068513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376846907	chr1:210068513-210068514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28563871	chr1:210068514-210068515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28391511	chr1:210068515-210068516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546509959	chr1:210068519-210068520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs398053768	chr1:210068520-210068521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375366525	chr1:210068565-210068566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74688211	chr1:210068574-210068575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551690339	chr1:210068598-210068599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569819399	chr1:210068608-210068609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530545603	chr1:210068619-210068620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548955959	chr1:210068637-210068638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567259298	chr1:210068674-210068675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555711632	chr1:210068688-210068689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370379936	chr1:210068720-210068721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111470261	chr1:210068727-210068728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534755137	chr1:210068770-210068771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552769922	chr1:210068791-210068792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571843649	chr1:210068792-210068793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538821770	chr1:210068806-210068807	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs7526534	chr1:210068821-210068822	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs575484832	chr1:210068857-210068858	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs536262716	chr1:210068937-210068938	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs11119362	chr1:210068951-210068952	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs7540704	chr1:210068954-210068955	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540767553	chr1:210069010-210069011	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs12079812	chr1:210069056-210069057	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs577775402	chr1:210069150-210069151	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs76961247	chr1:210069196-210069197	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs192723876	chr1:210069212-210069213	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs137980393	chr1:210069227-210069228	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs549279135	chr1:210069316-210069317	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs541581678	chr1:210069412-210069413	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs560914050	chr1:210069433-210069434	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs528084864	chr1:210069455-210069456	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
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
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
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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210060600-210068200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:210064400-210068200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:210064400-210068800	Weak transcription	HSMM	muscle
4	chr1:210064600-210068200	Weak transcription	HUVEC	blood vessel
5	chr1:210065200-210068200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:210065200-210068200	Weak transcription	Osteobl	bone
7	chr1:210066200-210068800	Enhancers	Hela-S3	cervix
8	chr1:210066600-210070800	Enhancers	NHEK	skin
9	chr1:210066800-210070800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:210066800-210070800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:210067000-210068400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:210067200-210068200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:210067200-210068200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:210067200-210069000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:210067200-210069600	Weak transcription	HSMMtube	muscle
16	chr1:210067400-210069600	Weak transcription	NHDF-Ad	bronchial
17	chr1:210067600-210071000	Enhancers	HMEC	breast
18	chr1:210067800-210071000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:210068000-210068800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:210068000-210069000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:210068000-210069400	Enhancers	NH-A	brain
22	chr1:210068000-210070200	Enhancers	Primary T cells from cord blood	blood
23	chr1:210068000-210070400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:210068000-210070400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:210068200-210068800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:210068200-210069000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:210068200-210069600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:210068200-210070200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:210068200-210070200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:210068200-210070200	Enhancers	HUVEC	blood vessel
31	chr1:210068200-210070400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:210068200-210070600	Enhancers	Osteobl	bone
33	chr1:210068200-210070800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:210068400-210069200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:210068800-210069000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr1:210068800-210069600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:210068800-210069600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:210068800-210070000	Flanking Active TSS	Hela-S3	cervix
39	chr1:210068800-210070000	Enhancers	HSMM	muscle
40	chr1:210069000-210069200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:210069000-210069400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr1:210069000-210069600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:210069000-210070600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:210069200-210069400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:210069200-210069400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:210069400-210069600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:210069400-210069800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr1:210069400-210069800	Enhancers	Placenta	Placenta
49	chr1:210069400-210070000	Flanking Active TSS	NH-A	brain
50	chr1:210069600-210069800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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