Variant report

Variant	esv10341
Chromosome Location	chr1:228255275-228261200
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228191350..228193786-chr1:228257693..228259549,2	MCF-7	breast:
2	chr1:228248925..228252171-chr1:228258918..228261969,3	MCF-7	breast:
3	chr1:228259486..228261831-chr1:228263458..228267215,4	MCF-7	breast:
4	chr1:228256397..228258359-chr1:228260087..228261703,2	MCF-7	breast:
5	chr1:228230109..228232010-chr1:228259554..228261382,2	MCF-7	breast:
6	chr1:228190941..228192847-chr1:228260763..228262214,8	MCF-7	breast:
7	chr1:228193335..228195504-chr1:228260630..228262645,2	MCF-7	breast:
8	chr1:228252404..228256168-chr1:228256803..228260253,5	MCF-7	breast:
9	chr1:228191984..228194843-chr1:228260469..228263373,2	MCF-7	breast:
10	chr1:228249620..228252604-chr1:228254168..228256020,2	MCF-7	breast:
11	chr1:228255167..228256688-chr5:676745..679087,2	K562	blood:
12	chr1:228251281..228254071-chr1:228258113..228259786,2	MCF-7	breast:
13	chr1:228230050..228232873-chr1:228260583..228263014,2	MCF-7	breast:
14	chr1:228257466..228261450-chr1:228360954..228363878,3	K562	blood:
15	chr1:228256397..228258359-chr1:228260087..228261703,2	MCF-7	breast:
16	chr1:228246811..228249127-chr1:228257869..228259965,2	MCF-7	breast:
17	chr1:228252404..228256168-chr1:228256803..228260253,5	MCF-7	breast:
18	chr1:228187251..228191319-chr1:228259829..228263819,5	MCF-7	breast:
19	chr1:228186754..228188818-chr1:228253056..228255508,2	MCF-7	breast:
20	chr1:228186931..228189875-chr1:228260382..228263090,3	MCF-7	breast:
21	chr1:228196561..228199539-chr1:228260175..228262293,2	MCF-7	breast:
22	chr1:228249900..228252116-chr1:228255479..228257281,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000154342	chromatin interactions
ENSG00000181873	chromatin interactions

Extended variants
information (count: 225 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148451965	chr1:228255325-228255326	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560711504	chr1:228255341-228255342	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371249076	chr1:228255356-228255357	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544506262	chr1:228255428-228255429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10916263	chr1:228255433-228255434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113062093	chr1:228255504-228255505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533361433	chr1:228255554-228255555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145202405	chr1:228255567-228255568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375727594	chr1:228255576-228255577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375609730	chr1:228255610-228255611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545943414	chr1:228255643-228255644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527770405	chr1:228255652-228255653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549399279	chr1:228255659-228255660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189039107	chr1:228255671-228255672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34873689	chr1:228255697-228255698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376440280	chr1:228255718-228255719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2760066	chr1:228255729-228255730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112900924	chr1:228255746-228255747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2760065	chr1:228255756-228255757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550111901	chr1:228255800-228255801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571534590	chr1:228255869-228255870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185113389	chr1:228255890-228255891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189571565	chr1:228255942-228255943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572143869	chr1:228255944-228255945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147700067	chr1:228255961-228255962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554599680	chr1:228255962-228255963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575954319	chr1:228255996-228255997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144676361	chr1:228256015-228256016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57657087	chr1:228256020-228256021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs181088252	chr1:228256037-228256038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140767080	chr1:228256048-228256049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545230211	chr1:228256059-228256060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560512697	chr1:228256064-228256065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527833391	chr1:228256083-228256084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547236812	chr1:228256148-228256149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565617192	chr1:228256220-228256221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549214343	chr1:228256248-228256249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561393621	chr1:228256270-228256271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547173563	chr1:228256279-228256280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531757268	chr1:228256283-228256284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372791150	chr1:228256322-228256323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs202130644	chr1:228256337-228256338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376766408	chr1:228256338-228256339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146001382	chr1:228256420-228256421	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78748482	chr1:228256443-228256444	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183939844	chr1:228256515-228256516	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114942031	chr1:228256524-228256525	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371337929	chr1:228256819-228256820	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533224454	chr1:228256909-228256910	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188274922	chr1:228256917-228256918	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
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
Breast cancer	17603634	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228248200-228269000	Weak transcription	Right Atrium	heart
2	chr1:228254600-228255400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:228255200-228255400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:228255200-228255400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:228256400-228256600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:228256400-228257000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:228258400-228258600	Bivalent Enhancer	Brain Germinal Matrix	brain
8	chr1:228258400-228258600	Enhancers	Esophagus	oesophagus
9	chr1:228258600-228269000	Weak transcription	Esophagus	oesophagus
10	chr1:228259600-228262000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:228260000-228260200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr1:228260000-228260200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr1:228260000-228260200	Enhancers	Spleen	Spleen
14	chr1:228260000-228260800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:228260200-228260600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:228260200-228261800	Weak transcription	Spleen	Spleen
17	chr1:228260200-228268000	Weak transcription	Gastric	stomach
18	chr1:228260200-228269000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:228260400-228260600	Enhancers	Liver	Liver
20	chr1:228260400-228261200	Enhancers	Ovary	ovary
21	chr1:228260600-228261000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr1:228260800-228261200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:228260800-228262000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:228260800-228262200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:228260800-228262200	Enhancers	Brain Germinal Matrix	brain
26	chr1:228261000-228261200	Bivalent Enhancer	Colonic Mucosa	Colon
27	chr1:228261000-228261800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:228261000-228262200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:228261000-228262200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:228261000-228262200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:228261000-228262400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr1:228261000-228263200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:228261000-228263400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:228261200-228261600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
35	chr1:228261200-228262200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:228261200-228262200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:228261200-228262200	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr1:228261200-228263000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:228261200-228267600	Weak transcription	Ovary	ovary

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