Variant report

Variant	esv3424962
Chromosome Location	chr1:211368579-211371827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210545612..210547393-chr1:211371347..211373916,2	MCF-7	breast:
2	chr1:211366897..211369735-chr1:211430540..211432922,2	K562	blood:

Variant related genes	Relation type
ENSG00000117625	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190438639	chr1:211368582-211368583	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs146609264	chr1:211368595-211368596	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546660879	chr1:211368607-211368608	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs571593021	chr1:211368614-211368615	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571654390	chr1:211368625-211368626	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533681604	chr1:211368632-211368633	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192616420	chr1:211368634-211368635	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs539129337	chr1:211368675-211368676	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs557491682	chr1:211368746-211368747	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs569441716	chr1:211368757-211368758	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs74661084	chr1:211368806-211368807	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs555174869	chr1:211368819-211368820	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs141349311	chr1:211368824-211368825	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534551313	chr1:211368826-211368827	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs12726979	chr1:211368851-211368852	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
16	rs74157510	chr1:211368855-211368856	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs145185731	chr1:211368881-211368882	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562259164	chr1:211368911-211368912	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371835180	chr1:211368935-211368936	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574265231	chr1:211368983-211368984	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs184456966	chr1:211369012-211369013	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs77070502	chr1:211369034-211369035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs527579730	chr1:211369055-211369056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs367832889	chr1:211369077-211369078	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs552487763	chr1:211369100-211369101	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565084375	chr1:211369108-211369109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532557985	chr1:211369132-211369133	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551068537	chr1:211369140-211369141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs73077471	chr1:211369147-211369148	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs536780772	chr1:211369161-211369162	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs139007142	chr1:211369170-211369171	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112637220	chr1:211369183-211369184	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs117165161	chr1:211369218-211369219	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535719843	chr1:211369290-211369291	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559213342	chr1:211369330-211369331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs576393850	chr1:211369336-211369337	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs188479877	chr1:211369339-211369340	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555768563	chr1:211369376-211369377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs143669605	chr1:211369381-211369382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs181320825	chr1:211369393-211369394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568712722	chr1:211369397-211369398	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs370232274	chr1:211369414-211369415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs139113526	chr1:211369458-211369459	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs77029126	chr1:211369490-211369491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs3111234	chr1:211369499-211369500	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545737159	chr1:211369552-211369553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs148078497	chr1:211369554-211369555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs141898161	chr1:211369588-211369589	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs564430471	chr1:211369645-211369646	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs76053832	chr1:211369677-211369678	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211366000-211371400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:211368200-211369000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:211369000-211371400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:211369600-211370600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:211370200-211370400	Enhancers	NHEK	skin
6	chr1:211370400-211370600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:211370400-211370600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:211370400-211373000	Enhancers	HMEC	breast
9	chr1:211370600-211371000	Weak transcription	NHEK	skin
10	chr1:211370600-211371600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:211370800-211371200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:211371000-211372400	Enhancers	NHEK	skin
13	chr1:211371200-211371400	Enhancers	A549	lung
14	chr1:211371200-211372000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:211371400-211371800	Enhancers	HSMMtube	muscle
16	chr1:211371400-211371800	Enhancers	K562	blood
17	chr1:211371400-211372000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:211371400-211372000	Flanking Active TSS	A549	lung
19	chr1:211371400-211372000	Enhancers	NH-A	brain
20	chr1:211371400-211372200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:211371400-211372200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:211371400-211372200	Enhancers	Osteobl	bone
23	chr1:211371400-211372600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:211371400-211372600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:211371400-211373000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:211371600-211372400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:211371600-211372600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:211371600-211372600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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