Variant report

Variant	esv3403842
Chromosome Location	chr1:197739479-197740627
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	chr1:197730915..197735254-chr1:197735457..197740919,5	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571888648	chr1:197739529-197739530	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74361054	chr1:197739540-197739541	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547333279	chr1:197739610-197739611	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565646020	chr1:197739645-197739646	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535897228	chr1:197739677-197739678	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554241122	chr1:197739688-197739689	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139465661	chr1:197739720-197739721	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535051111	chr1:197739721-197739722	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553462597	chr1:197739722-197739723	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs59631965	chr1:197739737-197739738	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12748992	chr1:197739738-197739739	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569553192	chr1:197739741-197739742	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12749001	chr1:197739761-197739762	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12753178	chr1:197739765-197739766	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368228704	chr1:197739772-197739773	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372425062	chr1:197739773-197739774	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536831607	chr1:197739775-197739776	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376753175	chr1:197739777-197739778	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs67976755	chr1:197739778-197739779	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs55806696	chr1:197739780-197739781	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113119984	chr1:197739781-197739782	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12084910	chr1:197739805-197739806	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10922274	chr1:197739891-197739892	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10922275	chr1:197739893-197739894	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10922276	chr1:197739915-197739916	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10922277	chr1:197739917-197739918	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372269365	chr1:197739930-197739931	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558605100	chr1:197739936-197739937	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10922278	chr1:197739939-197739940	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10922279	chr1:197739941-197739942	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557649792	chr1:197739942-197739943	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10922280	chr1:197739948-197739949	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10922281	chr1:197739950-197739951	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs202158934	chr1:197739951-197739952	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577037168	chr1:197739956-197739957	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10922282	chr1:197739974-197739975	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56917586	chr1:197739976-197739977	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140893819	chr1:197740012-197740013	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370347546	chr1:197740044-197740045	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113477593	chr1:197740045-197740046	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549144166	chr1:197740110-197740111	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187553168	chr1:197740113-197740114	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192376478	chr1:197740114-197740115	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572470375	chr1:197740151-197740152	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557573173	chr1:197740199-197740200	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1775443	chr1:197740213-197740214	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs561352510	chr1:197740290-197740291	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149817100	chr1:197740294-197740295	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543969526	chr1:197740308-197740309	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565456729	chr1:197740309-197740310	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	20472715	CNVD
Multiple myeloma	16461302	CNVD
Leukoplakia	24403051	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197695800-197742200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:197702800-197743800	Weak transcription	Esophagus	oesophagus
3	chr1:197706800-197741800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:197712200-197741600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:197712200-197742000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:197714400-197743800	Weak transcription	Spleen	Spleen
7	chr1:197714600-197741600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr1:197714600-197742400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:197714600-197743600	Weak transcription	Ovary	ovary
10	chr1:197715400-197740000	Weak transcription	Left Ventricle	heart
11	chr1:197715400-197741800	Weak transcription	Gastric	stomach
12	chr1:197718400-197740200	Weak transcription	NHDF-Ad	bronchial
13	chr1:197718600-197741800	Weak transcription	Osteobl	bone
14	chr1:197719200-197743800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:197720200-197740600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:197721200-197743000	Weak transcription	Fetal Kidney	kidney
17	chr1:197722600-197740800	Weak transcription	Fetal Lung	lung
18	chr1:197729200-197740600	Weak transcription	Fetal Intestine Large	intestine
19	chr1:197730200-197742600	Weak transcription	HMEC	breast
20	chr1:197730600-197742600	Weak transcription	NH-A	brain
21	chr1:197731400-197742400	Weak transcription	Primary B cells from cord blood	blood
22	chr1:197731600-197743200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:197732000-197742400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr1:197732200-197740600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:197732400-197740400	Weak transcription	Fetal Intestine Small	intestine
26	chr1:197733000-197740600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:197733000-197741600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:197733200-197740600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr1:197733200-197740600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:197733200-197741800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:197733200-197742400	Weak transcription	Stomach Mucosa	stomach
32	chr1:197733400-197740200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:197733400-197743000	Weak transcription	A549	lung
34	chr1:197734200-197742600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:197734600-197742200	Weak transcription	NHLF	lung
36	chr1:197734800-197740200	Weak transcription	Fetal Heart	heart
37	chr1:197735200-197743800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:197736200-197742400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:197736200-197743200	Weak transcription	Right Ventricle	heart
40	chr1:197736800-197739600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr1:197737000-197740600	Genic enhancers	Dnd41	blood
42	chr1:197737200-197742800	Weak transcription	Fetal Stomach	stomach
43	chr1:197737400-197739600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr1:197737400-197740600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:197737400-197740600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:197737400-197741200	Weak transcription	Thymus	Thymus
47	chr1:197737400-197741600	Weak transcription	Right Atrium	heart
48	chr1:197737400-197741800	Weak transcription	Hela-S3	cervix
49	chr1:197737400-197743600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr1:197737800-197740200	Weak transcription	Fetal Thymus	thymus

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