Variant report

Variant	esv3340317
Chromosome Location	chr1:228256629-228261427
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228196561..228199539-chr1:228260175..228262293,2	MCF-7	breast:
2	chr1:227949923..227950798-chr1:228261303..228262101,2	K562	blood:
3	chr1:228193335..228195504-chr1:228260630..228262645,2	MCF-7	breast:
4	chr1:228246811..228249127-chr1:228257869..228259965,2	MCF-7	breast:
5	chr1:228255167..228256688-chr5:676745..679087,2	K562	blood:
6	chr1:228248925..228252171-chr1:228258918..228261969,3	MCF-7	breast:
7	chr1:228230050..228232873-chr1:228260583..228263014,2	MCF-7	breast:
8	chr1:228230109..228232010-chr1:228259554..228261382,2	MCF-7	breast:
9	chr1:228187251..228191319-chr1:228259829..228263819,5	MCF-7	breast:
10	chr1:228191736..228192588-chr1:228261257..228262099,3	K562	blood:
11	chr1:228256397..228258359-chr1:228260087..228261703,2	MCF-7	breast:
12	chr1:228191745..228192555-chr1:228261259..228261971,3	MCF-7	breast:
13	chr1:228191984..228194843-chr1:228260469..228263373,2	MCF-7	breast:
14	chr1:228251281..228254071-chr1:228258113..228259786,2	MCF-7	breast:
15	chr1:228191350..228193786-chr1:228257693..228259549,2	MCF-7	breast:
16	chr1:228249900..228252116-chr1:228255479..228257281,2	MCF-7	breast:
17	chr1:228190941..228192847-chr1:228260763..228262214,8	MCF-7	breast:
18	chr1:228257466..228261450-chr1:228360954..228363878,3	K562	blood:
19	chr1:228256397..228258359-chr1:228260087..228261703,2	MCF-7	breast:
20	chr1:228252404..228256168-chr1:228256803..228260253,5	MCF-7	breast:
21	chr1:228186931..228189875-chr1:228260382..228263090,3	MCF-7	breast:
22	chr1:228186815..228187699-chr1:228261306..228261863,3	MCF-7	breast:
23	chr1:228259486..228261831-chr1:228263458..228267215,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000181873	chromatin interactions
ENSG00000154342	chromatin interactions

Extended variants
information (count: 187 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371337929	chr1:228256819-228256820	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533224454	chr1:228256909-228256910	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188274922	chr1:228256917-228256918	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565736961	chr1:228256939-228256940	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72756209	chr1:228256950-228256951	Bivalent/Poised TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs180831293	chr1:228256972-228256973	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374909702	chr1:228256975-228256976	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554379889	chr1:228256978-228256979	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569382976	chr1:228257006-228257007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117981715	chr1:228257012-228257013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187389202	chr1:228257019-228257020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371642061	chr1:228257025-228257026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79898702	chr1:228257048-228257049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554399225	chr1:228257064-228257065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572561390	chr1:228257085-228257086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150478428	chr1:228257143-228257144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561249363	chr1:228257146-228257147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531820582	chr1:228257147-228257148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112086832	chr1:228257169-228257170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371728138	chr1:228257186-228257187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543873661	chr1:228257195-228257196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372476892	chr1:228257243-228257244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145388378	chr1:228257246-228257247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149197369	chr1:228257251-228257252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190476510	chr1:228257262-228257263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181737265	chr1:228257273-228257274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565274766	chr1:228257288-228257289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145084113	chr1:228257300-228257301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532500613	chr1:228257376-228257377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552782217	chr1:228257399-228257400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376263780	chr1:228257414-228257415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200595720	chr1:228257445-228257446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528919422	chr1:228257457-228257458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186857418	chr1:228257472-228257473	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368048766	chr1:228257482-228257483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548982664	chr1:228257490-228257491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs75297048	chr1:228257502-228257503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529870091	chr1:228257567-228257568	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs28634124	chr1:228257598-228257599	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs73092923	chr1:228257620-228257621	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs140892306	chr1:228257641-228257642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549657263	chr1:228257750-228257751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs113404293	chr1:228257761-228257762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs146051581	chr1:228257786-228257787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs193143050	chr1:228257795-228257796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs140982654	chr1:228257835-228257836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs147207488	chr1:228257847-228257848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs185531665	chr1:228257849-228257850	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs116226949	chr1:228257862-228257863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs570117561	chr1:228257894-228257895	Weak transcription	Chromatin interactive region	1 gene(s)	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228248200-228269000	Weak transcription	Right Atrium	heart
2	chr1:228256400-228257000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:228258400-228258600	Bivalent Enhancer	Brain Germinal Matrix	brain
4	chr1:228258400-228258600	Enhancers	Esophagus	oesophagus
5	chr1:228258600-228269000	Weak transcription	Esophagus	oesophagus
6	chr1:228259600-228262000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:228260000-228260200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr1:228260000-228260200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr1:228260000-228260200	Enhancers	Spleen	Spleen
10	chr1:228260000-228260800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:228260200-228260600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:228260200-228261800	Weak transcription	Spleen	Spleen
13	chr1:228260200-228268000	Weak transcription	Gastric	stomach
14	chr1:228260200-228269000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:228260400-228260600	Enhancers	Liver	Liver
16	chr1:228260400-228261200	Enhancers	Ovary	ovary
17	chr1:228260600-228261000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr1:228260800-228261200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:228260800-228262000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:228260800-228262200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:228260800-228262200	Enhancers	Brain Germinal Matrix	brain
22	chr1:228261000-228261200	Bivalent Enhancer	Colonic Mucosa	Colon
23	chr1:228261000-228261800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:228261000-228262200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:228261000-228262200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:228261000-228262200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:228261000-228262400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr1:228261000-228263200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:228261000-228263400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:228261200-228261600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
31	chr1:228261200-228262200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:228261200-228262200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:228261200-228262200	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr1:228261200-228263000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:228261200-228267600	Weak transcription	Ovary	ovary
36	chr1:228261400-228261600	Enhancers	Brain Hippocampus Middle	brain
37	chr1:228261400-228261600	Enhancers	Fetal Heart	heart
38	chr1:228261400-228262000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr1:228261400-228262000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr1:228261400-228262000	Enhancers	Placenta	Placenta
41	chr1:228261400-228262000	Enhancers	Lung	lung
42	chr1:228261400-228262000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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