Variant report

Variant	esv3452706
Chromosome Location	chr1:220436374-220440886
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:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:220437133..220439238-chr1:220458442..220459950,2	K562	blood:
2	chr1:220420506..220423214-chr1:220434683..220436632,3	K562	blood:
3	chr1:220438275..220439851-chr1:220451270..220453670,2	K562	blood:
4	chr1:220440528..220443413-chr1:220443546..220445862,4	MCF-7	breast:
5	chr1:220415384..220417325-chr1:220437558..220439400,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BPNT1-2	chr1:220439327-220441093	NONHSAT009593
2	lnc-BPNT1-2	chr1:220439521-220441057	NONHSAT009594
3	lnc-BPNT1-2	chr1:220440048-220441259	NONHSAT009595

No data

Variant related genes	Relation type
ENSG00000118873	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386420657	chr1:220436374-220436375	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569846420	chr1:220436442-220436443	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74990064	chr1:220436455-220436456	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535433348	chr1:220436562-220436563	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553715545	chr1:220436581-220436582	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572209339	chr1:220436588-220436589	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191601222	chr1:220436606-220436607	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183233787	chr1:220436650-220436651	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188690444	chr1:220436659-220436660	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577759718	chr1:220436815-220436816	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543676604	chr1:220436819-220436820	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193030750	chr1:220436870-220436871	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111555920	chr1:220436900-220436901	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78863208	chr1:220436933-220436934	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151150003	chr1:220436938-220436939	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2808016	chr1:220436942-220436943	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73095631	chr1:220436989-220436990	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187865621	chr1:220436997-220436998	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191219095	chr1:220437061-220437062	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549986868	chr1:220437084-220437085	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569783579	chr1:220437126-220437127	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370293452	chr1:220437137-220437138	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535565406	chr1:220437143-220437144	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76870562	chr1:220437199-220437200	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549063442	chr1:220437203-220437204	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183794571	chr1:220437236-220437237	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578100994	chr1:220437269-220437270	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140176809	chr1:220437350-220437351	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186838790	chr1:220437367-220437368	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1033107	chr1:220437371-220437372	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs540484004	chr1:220437413-220437414	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574886051	chr1:220437504-220437505	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573737394	chr1:220437573-220437574	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542709670	chr1:220437642-220437643	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375247550	chr1:220437649-220437650	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559228268	chr1:220437702-220437703	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368915114	chr1:220437721-220437722	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560700588	chr1:220437739-220437740	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192933282	chr1:220437795-220437796	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367590767	chr1:220437826-220437827	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185040648	chr1:220437932-220437933	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533463770	chr1:220437935-220437936	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549925381	chr1:220437936-220437937	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563546002	chr1:220438016-220438017	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs149914673	chr1:220438106-220438107	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs144999220	chr1:220438171-220438172	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs142120823	chr1:220438174-220438175	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs534997491	chr1:220438229-220438230	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55776447	chr1:220438301-220438302	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190331386	chr1:220438367-220438368	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	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
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
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220393000-220441000	Weak transcription	NHDF-Ad	bronchial
2	chr1:220416000-220442600	Weak transcription	Fetal Heart	heart
3	chr1:220421000-220436800	Weak transcription	Fetal Kidney	kidney
4	chr1:220423000-220443400	Weak transcription	Psoas Muscle	Psoas
5	chr1:220423400-220443400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:220423400-220443400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:220423600-220440400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:220423800-220442600	Weak transcription	Hela-S3	cervix
9	chr1:220424400-220439600	Weak transcription	HMEC	breast
10	chr1:220425200-220443400	Weak transcription	HUVEC	blood vessel
11	chr1:220426200-220440200	Weak transcription	Gastric	stomach
12	chr1:220426200-220441800	Weak transcription	Small Intestine	intestine
13	chr1:220426400-220439600	Weak transcription	HSMMtube	muscle
14	chr1:220426600-220436400	Weak transcription	A549	lung
15	chr1:220426600-220436800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:220426600-220439000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:220426600-220439800	Weak transcription	NHEK	skin
18	chr1:220426600-220440000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:220426600-220440200	Weak transcription	NHLF	lung
20	chr1:220426600-220440600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:220426600-220443400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:220426600-220443400	Weak transcription	Right Ventricle	heart
23	chr1:220426600-220444400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:220426800-220436600	Weak transcription	Left Ventricle	heart
25	chr1:220426800-220436600	Weak transcription	Osteobl	bone
26	chr1:220426800-220436800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:220426800-220437800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:220426800-220438600	Weak transcription	HSMM	muscle
29	chr1:220426800-220438800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr1:220426800-220438800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr1:220426800-220439000	Weak transcription	Adipose Nuclei	Adipose
32	chr1:220426800-220439200	Weak transcription	NH-A	brain
33	chr1:220426800-220439400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:220426800-220439600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:220426800-220439800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:220426800-220440000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:220426800-220440000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr1:220426800-220440000	Weak transcription	Placenta	Placenta
39	chr1:220426800-220441800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr1:220426800-220441800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr1:220426800-220442800	Weak transcription	Esophagus	oesophagus
42	chr1:220426800-220443400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:220426800-220443400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:220426800-220443400	Weak transcription	Ovary	ovary
45	chr1:220426800-220444000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:220426800-220444200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:220426800-220444400	Weak transcription	Colonic Mucosa	Colon
48	chr1:220426800-220445000	Weak transcription	Aorta	Aorta
49	chr1:220426800-220445000	Weak transcription	Pancreas	Pancrea
50	chr1:220427000-220439000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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