Variant report

Variant	esv16051
Chromosome Location	chr1:211655600-211656492
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211643117..211644840-chr1:211656331..211659114,2	K562	blood:
2	chr1:211649424..211652374-chr1:211654893..211658184,3	K562	blood:
3	chr1:211656368..211658461-chr1:211818304..211819839,2	K562	blood:
4	chr1:211647726..211649253-chr1:211655192..211657075,2	MCF-7	breast:
5	chr1:211653426..211655155-chr1:211655714..211658507,2	K562	blood:
6	chr1:211656405..211659421-chr1:211661740..211666279,5	K562	blood:
7	chr1:211652788..211656441-chr1:211661020..211664224,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198570	chromatin interactions
ENSG00000223649	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538904998	chr1:211655653-211655654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183977931	chr1:211655676-211655677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544223057	chr1:211655677-211655678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556107342	chr1:211655701-211655702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574887461	chr1:211655702-211655703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186879558	chr1:211655710-211655711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191294909	chr1:211655723-211655724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373132538	chr1:211655774-211655775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184211397	chr1:211655804-211655805	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs186994353	chr1:211655812-211655813	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs564797493	chr1:211655825-211655826	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs192893850	chr1:211655854-211655855	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs140772585	chr1:211655870-211655871	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs116856547	chr1:211655871-211655872	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs150048218	chr1:211655934-211655935	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs547217381	chr1:211655935-211655936	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs185303803	chr1:211655950-211655951	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs539278614	chr1:211656014-211656015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190149742	chr1:211656050-211656051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540155553	chr1:211656148-211656149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145328805	chr1:211656170-211656171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142661009	chr1:211656186-211656187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556521490	chr1:211656187-211656188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs60545899	chr1:211656204-211656205	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs17017536	chr1:211656238-211656239	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs554006994	chr1:211656327-211656328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572479902	chr1:211656371-211656372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146908323	chr1:211656398-211656399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551454121	chr1:211656455-211656456	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs532053041	chr1:211656461-211656462	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs544174305	chr1:211656462-211656463	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	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
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
Glioblastoma multiforme	17002787	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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	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
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211643600-211656200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:211647800-211664600	Weak transcription	Gastric	stomach
3	chr1:211648000-211665600	Weak transcription	Right Atrium	heart
4	chr1:211653400-211656200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:211654600-211657400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:211654800-211656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:211655600-211655800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:211655800-211656000	Bivalent Enhancer	HSMMtube	muscle
9	chr1:211655800-211656600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:211655800-211659400	Enhancers	Fetal Muscle Leg	muscle
11	chr1:211656000-211659000	Enhancers	HSMMtube	muscle
12	chr1:211656200-211657000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:211656200-211657600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:211656200-211658200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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