Variant report

Variant	esv3429180
Chromosome Location	chr1:220259935-220260350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220186134..220187962-chr1:220260106..220262494,2	K562	blood:
2	chr1:220010820..220011590-chr1:220259244..220260099,2	K562	blood:
3	chr1:220258983..220260930-chr1:220282366..220284505,2	K562	blood:
4	chr1:220257353..220261155-chr1:220267396..220269085,3	MCF-7	breast:
5	chr1:220258594..220260876-chr1:220261597..220263331,2	K562	blood:
6	chr1:220258370..220259976-chr1:220261767..220263320,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162813	chromatin interactions
ENSG00000067704	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574803113	chr1:220260021-220260022	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs540495076	chr1:220260059-220260060	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs185301443	chr1:220260062-220260063	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs569704148	chr1:220260138-220260139	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs532144930	chr1:220260190-220260191	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs190546715	chr1:220260201-220260202	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs12081255	chr1:220260202-220260203	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371986081	chr1:220260246-220260247	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs371354498	chr1:220260272-220260273	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567473798	chr1:220260276-220260277	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs138966701	chr1:220260321-220260322	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs185044847	chr1:220260337-220260338	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
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
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
Acute lymphoblastic leukemia	21098271	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
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	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
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220220600-220262400	Weak transcription	Pancreas	Pancrea
2	chr1:220220600-220262400	Weak transcription	NHLF	lung
3	chr1:220220800-220261600	Weak transcription	Fetal Brain Male	brain
4	chr1:220236400-220262800	Weak transcription	Esophagus	oesophagus
5	chr1:220238000-220262800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:220238000-220267400	Weak transcription	Spleen	Spleen
7	chr1:220238200-220262800	Weak transcription	Gastric	stomach
8	chr1:220239400-220262000	Weak transcription	Brain Germinal Matrix	brain
9	chr1:220239600-220261600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:220239600-220262400	Weak transcription	Right Ventricle	heart
11	chr1:220241200-220261800	Weak transcription	A549	lung
12	chr1:220241200-220262000	Weak transcription	HMEC	breast
13	chr1:220241200-220262400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:220241200-220262400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:220241400-220262400	Weak transcription	NHEK	skin
16	chr1:220242600-220262800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:220243800-220262400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:220246200-220262000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:220246400-220261600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:220246400-220261800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:220246400-220262000	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:220246400-220262400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:220246400-220262400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:220246400-220262400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:220246400-220262400	Weak transcription	Brain Anterior Caudate	brain
26	chr1:220246400-220262400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:220246400-220262400	Weak transcription	Brain Substantia Nigra	brain
28	chr1:220246400-220262400	Weak transcription	Fetal Brain Female	brain
29	chr1:220246600-220262400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:220246600-220262400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:220246600-220262400	Weak transcription	Colonic Mucosa	Colon
32	chr1:220246800-220262400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:220246800-220262400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:220246800-220262400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:220246800-220262400	Weak transcription	Fetal Heart	heart
36	chr1:220246800-220262400	Weak transcription	Thymus	Thymus
37	chr1:220247000-220262400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:220247000-220262400	Weak transcription	Aorta	Aorta
39	chr1:220247000-220262400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:220247000-220262400	Weak transcription	Fetal Muscle Leg	muscle
41	chr1:220247000-220262800	Weak transcription	Lung	lung
42	chr1:220247200-220262400	Weak transcription	Adipose Nuclei	Adipose
43	chr1:220247400-220261800	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr1:220247400-220262400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:220247400-220262400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:220247400-220262400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:220247400-220262400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:220247400-220262400	Weak transcription	NH-A	brain
49	chr1:220247600-220260800	Weak transcription	Dnd41	blood
50	chr1:220247600-220261600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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