Variant report

Variant	esv2762170
Chromosome Location	chr1:104817700-105411596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:105128438..105130994-chr1:105132786..105134781,2	K562	blood:
2	chr1:105016188..105019008-chr1:105023747..105026676,2	K562	blood:
3	chr1:105021052..105022674-chr1:105034468..105036725,2	K562	blood:
4	chr1:105225780..105228608-chr1:105234068..105236251,2	K562	blood:
5	chr1:105322783..105323719-chr1:106810790..106811327,2	MCF-7	breast:
6	chr1:105323182..105323702-chr1:106336107..106336743,2	K562	blood:
7	chr1:105322701..105323694-chr1:106151023..106151974,2	MCF-7	breast:
8	chr1:105322921..105323781-chr1:106335621..106336447,4	MCF-7	breast:
9	chr1:105021052..105022674-chr1:105034468..105036725,2	K562	blood:
10	chr1:105016188..105019008-chr1:105023747..105026676,2	K562	blood:
11	chr1:105190498..105191127-chr1:106335842..106336840,2	MCF-7	breast:
12	chr1:105128438..105130994-chr1:105132786..105134781,2	K562	blood:
13	chr1:105225780..105228608-chr1:105234068..105236251,2	K562	blood:
14	chr1:105059139..105061952-chr1:105062553..105064235,2	K562	blood:
15	chr1:105396022..105396528-chr2:15494186..15495100,2	MCF-7	breast:
16	chr1:105059139..105061952-chr1:105062553..105064235,2	K562	blood:

No data

Extended variants
information (count: 4839 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:4839 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374683423	chr1:104819201-104819202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181750544	chr1:104819237-104819238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs981031	chr1:104819248-104819249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs535749906	chr1:104819280-104819281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568341093	chr1:104819295-104819296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79679419	chr1:104819323-104819324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572805328	chr1:104819330-104819331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540121963	chr1:104819357-104819358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558457614	chr1:104819369-104819370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112071644	chr1:104819382-104819383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77284953	chr1:104819526-104819527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543951218	chr1:104819536-104819537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555590999	chr1:104819539-104819540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574068505	chr1:104819541-104819542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145325250	chr1:104819545-104819546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559297598	chr1:104819546-104819547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112320647	chr1:104819581-104819582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147277987	chr1:104819582-104819583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564010764	chr1:104819600-104819601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77203454	chr1:104819617-104819618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549906194	chr1:104819628-104819629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568110070	chr1:104819633-104819634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139739297	chr1:104819661-104819662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113045311	chr1:104819662-104819663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72992863	chr1:104819748-104819749	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs565695849	chr1:104819784-104819785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183981350	chr1:104819803-104819804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558495265	chr1:104819819-104819820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570325893	chr1:104819820-104819821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537289747	chr1:104819825-104819826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535386039	chr1:104819859-104819860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370519174	chr1:104819876-104819877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553533915	chr1:104819881-104819882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565502087	chr1:104819888-104819889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs72681557	chr1:104819935-104819936	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs149726815	chr1:104819939-104819940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78606579	chr1:104819975-104819976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577636929	chr1:104819996-104819997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74746010	chr1:104819997-104819998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544391064	chr1:104820056-104820057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374775016	chr1:104820070-104820071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs67710391	chr1:104820071-104820072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144287887	chr1:104820099-104820100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59511070	chr1:104820102-104820103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs72328157	chr1:104820103-104820104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs61788174	chr1:104820104-104820105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564047536	chr1:104820105-104820106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531632502	chr1:104820106-104820107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72992864	chr1:104820128-104820129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561905345	chr1:104820176-104820177	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glioma	20126413	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104819200-104820200	Enhancers	Fetal Heart	heart
2	chr1:104833000-104833800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr1:104833000-104834000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:104833000-104834000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:104833000-104834000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr1:104833200-104833800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:104833400-104834000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:104833400-104834000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:104833400-104834200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:104833400-104834200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:104833600-104834000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr1:104836600-104837600	Enhancers	Fetal Heart	heart
13	chr1:104836800-104837200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:104886400-104886800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:104890600-104891400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:104896000-104896400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:104896200-104896600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:104899200-104899400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:104899400-104900600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:104900600-104903200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:104900800-104901000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:104901000-104901800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:104901800-104903000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:104903200-104904200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:104904200-104905000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:104911800-104913000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:104920800-104921400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr1:104920800-104921400	Enhancers	HMEC	breast
29	chr1:104921200-104921400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:104921200-104921600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:104921200-104921600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr1:104921200-104921600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:104921400-104922400	Weak transcription	HMEC	breast
34	chr1:104921400-104923000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:104922400-104923000	Enhancers	HMEC	breast
36	chr1:104922600-104923400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:104922800-104923200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:104923000-104923800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:104929200-104931200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:104930000-104931200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:104930200-104933600	Enhancers	HMEC	breast
42	chr1:104930800-104931200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:104930800-104931200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr1:104931200-104932600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:104931200-104933600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:104932600-104933200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:104941000-104948800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:104943200-104943400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:104943400-104944800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:104943800-104945400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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