Variant report

Variant	esv3391131
Chromosome Location	chr1:216913679-216915827
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:216774056..216774839-chr1:216915422..216916227,3	MCF-7	breast:
2	chr1:216739906..216740741-chr1:216915729..216916621,3	MCF-7	breast:
3	chr1:216913983..216915914-chr1:216921531..216923998,2	MCF-7	breast:
4	chr1:216483863..216484806-chr1:216915394..216916440,4	MCF-7	breast:
5	chr1:216914787..216915287-chr19:51522088..51522734,2	HCT-116	colon:
6	chr1:216913734..216915380-chr1:216918408..216920801,2	MCF-7	breast:
7	chr1:216906643..216908171-chr1:216912296..216914026,2	K562	blood:
8	chr1:216739958..216740765-chr1:216915802..216916535,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000129451	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9633503	chr1:216913694-216913695	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148955778	chr1:216913703-216913704	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368644494	chr1:216913713-216913714	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146948655	chr1:216913759-216913760	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372239515	chr1:216913796-216913797	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576942595	chr1:216913814-216913815	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs183684032	chr1:216913858-216913859	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs143707988	chr1:216913909-216913910	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs188563687	chr1:216913922-216913923	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs1339354	chr1:216913942-216913943	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs548162852	chr1:216913959-216913960	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs561638964	chr1:216913964-216913965	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs377019301	chr1:216913973-216913974	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs142748762	chr1:216913981-216913982	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs200576230	chr1:216914006-216914007	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs61819768	chr1:216914013-216914014	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs571059289	chr1:216914014-216914015	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs372614190	chr1:216914035-216914036	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs193089700	chr1:216914036-216914037	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs138367761	chr1:216914065-216914066	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs144913715	chr1:216914073-216914074	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs182796251	chr1:216914074-216914075	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs138771114	chr1:216914080-216914081	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs555305227	chr1:216914096-216914097	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs73093925	chr1:216914099-216914100	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs11572658	chr1:216914130-216914131	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs557957773	chr1:216914171-216914172	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs141814968	chr1:216914172-216914173	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs11572657	chr1:216914240-216914241	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs72173736	chr1:216914241-216914242	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs67314640	chr1:216914249-216914250	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs367679470	chr1:216914250-216914251	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs35741157	chr1:216914252-216914253	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs79632461	chr1:216914253-216914254	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs562776348	chr1:216914254-216914255	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs191495731	chr1:216914273-216914274	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541862432	chr1:216914296-216914297	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs150774963	chr1:216914341-216914342	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs373732753	chr1:216914397-216914398	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs527276378	chr1:216914406-216914407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183644996	chr1:216914419-216914420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576072196	chr1:216914435-216914436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547509738	chr1:216914446-216914447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190652561	chr1:216914519-216914520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533350864	chr1:216914545-216914546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs193152260	chr1:216914559-216914560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113179257	chr1:216914570-216914571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138011306	chr1:216914604-216914605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575071150	chr1:216914609-216914610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149496871	chr1:216914621-216914622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216897400-216958600	Weak transcription	Pancreas	Pancrea
2	chr1:216911600-216934200	Weak transcription	Psoas Muscle	Psoas
3	chr1:216912200-216914400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:216912600-216914000	Enhancers	Fetal Heart	heart
5	chr1:216912800-216913800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr1:216912800-216914400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:216913000-216913800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:216913000-216913800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr1:216913000-216914000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr1:216913000-216914200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:216913000-216914400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr1:216913200-216914000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:216913200-216914200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:216913400-216913800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:216913400-216914000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:216913400-216914400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr1:216913400-216914600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:216913600-216913800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
19	chr1:216913600-216914000	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr1:216913600-216914000	Enhancers	Brain Germinal Matrix	brain
21	chr1:216913800-216914200	Enhancers	Fetal Brain Female	brain
22	chr1:216913800-216914400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:216913800-216914800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:216913800-216915000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:216914000-216914200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr1:216914000-216915600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:216914000-216916200	Weak transcription	Fetal Heart	heart
28	chr1:216914200-216914400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:216914200-216915200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr1:216914200-216917800	Weak transcription	Fetal Brain Female	brain
31	chr1:216914400-216915600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:216914400-216923400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:216914800-216915600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:216915000-216916200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:216915400-216915600	Enhancers	H9 Cell Line	embryonic stem cell

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