Variant report

Variant	esv17333
Chromosome Location	chr6:14740872-14745737
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:14739993..14742172-chr6:14742805..14745724,2	MCF-7	breast:
2	chr6:14733688..14736163-chr6:14741520..14743474,2	K562	blood:
3	chr6:14744177..14745935-chr6:14757956..14760558,2	MCF-7	breast:
4	chr6:14744452..14746852-chr6:14757567..14759305,2	K562	blood:
5	chr6:14732242..14735089-chr6:14738711..14742750,5	MCF-7	breast:
6	chr6:14734009..14737295-chr6:14739247..14741023,4	K562	blood:
7	chr1:144533874..144534529-chr6:14744077..14744583,2	HCT-116	colon:
8	chr6:14723271..14725963-chr6:14742702..14744914,2	MCF-7	breast:
9	chr6:14742689..14745266-chr6:15089259..15092488,3	MCF-7	breast:
10	chr6:14742305..14744752-chr6:15222484..15225143,3	MCF-7	breast:
11	chr6:14740809..14742542-chr6:14742789..14745610,2	K562	blood:
12	chr6:14689204..14691508-chr6:14742647..14744690,2	K562	blood:
13	chr6:14726660..14728814-chr6:14743224..14745170,2	MCF-7	breast:
14	chr6:14741983..14744344-chr6:15066073..15067702,2	MCF-7	breast:
15	chr6:14739721..14742371-chr6:14745948..14748860,2	K562	blood:
16	chr6:14743112..14746025-chr6:14761526..14763688,5	MCF-7	breast:
17	chr6:14736458..14739208-chr6:14742819..14744601,3	K562	blood:
18	chr6:14740647..14742525-chr6:15245133..15247117,2	MCF-7	breast:
19	chr6:14740809..14742542-chr6:14742789..14745610,2	K562	blood:
20	chr6:14739993..14742172-chr6:14742805..14745724,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000008083	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000234261	chromatin interactions
ENSG00000271888	chromatin interactions

Extended variants
information (count: 211 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:211 , 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	rs554152866	chr6:14740877-14740878	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs202170882	chr6:14740885-14740886	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs372700538	chr6:14740899-14740900	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs73724572	chr6:14740976-14740977	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs542973885	chr6:14741000-14741001	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs562458764	chr6:14741004-14741005	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs550670604	chr6:14741020-14741021	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs368145800	chr6:14741057-14741058	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs571369369	chr6:14741094-14741095	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs576115869	chr6:14741098-14741099	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs537222382	chr6:14741102-14741103	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs6459374	chr6:14741128-14741129	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186547653	chr6:14741135-14741136	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs7743561	chr6:14741145-14741146	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs547605573	chr6:14741157-14741158	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs191723878	chr6:14741271-14741272	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs529950926	chr6:14741286-14741287	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs6459375	chr6:14741306-14741307	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs35205802	chr6:14741333-14741334	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs568898855	chr6:14741349-14741350	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs552999662	chr6:14741384-14741385	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs79533475	chr6:14741406-14741407	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs551438621	chr6:14741411-14741412	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs73372172	chr6:14741428-14741429	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs534042885	chr6:14741451-14741452	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs554315494	chr6:14741469-14741470	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs34856386	chr6:14741482-14741483	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs567767983	chr6:14741491-14741492	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs534991310	chr6:14741504-14741505	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs376933426	chr6:14741533-14741534	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs184697265	chr6:14741544-14741545	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs577384663	chr6:14741584-14741585	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs546365076	chr6:14741628-14741629	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs114107092	chr6:14741654-14741655	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs558671314	chr6:14741658-14741659	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs7744561	chr6:14741679-14741680	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs540770277	chr6:14741698-14741699	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs564542654	chr6:14741700-14741701	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs543560948	chr6:14741708-14741709	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs147049234	chr6:14741729-14741730	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs138512307	chr6:14741759-14741760	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs372486372	chr6:14741760-14741761	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs535379369	chr6:14741775-14741776	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs552062227	chr6:14741795-14741796	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs1010703	chr6:14741831-14741832	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs9476646	chr6:14741852-14741853	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs369941118	chr6:14741875-14741876	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs1010704	chr6:14741937-14741938	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs200881185	chr6:14741950-14741951	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs138199748	chr6:14741954-14741955	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14729400-14743400	Weak transcription	Adipose Nuclei	Adipose
2	chr6:14730200-14758600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:14733200-14743400	Weak transcription	Esophagus	oesophagus
4	chr6:14734000-14750600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:14735000-14742000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:14735800-14742800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:14735800-14742800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:14736000-14742200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:14736000-14742200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:14736400-14741800	Weak transcription	HMEC	breast
11	chr6:14737400-14758600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:14737600-14743600	Weak transcription	Spleen	Spleen
13	chr6:14738000-14742200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:14739400-14742600	Weak transcription	NHDF-Ad	bronchial
15	chr6:14739600-14742800	Weak transcription	K562	blood
16	chr6:14739600-14743000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:14739600-14743200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr6:14739600-14744000	Weak transcription	Thymus	Thymus
19	chr6:14739800-14743400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:14740000-14742200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr6:14740000-14743600	Weak transcription	Primary T cells from cord blood	blood
22	chr6:14740000-14743600	Weak transcription	Fetal Thymus	thymus
23	chr6:14740200-14743600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:14740400-14742000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:14740400-14743800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:14740600-14741800	ZNF genes & repeats	NHEK	skin
27	chr6:14740800-14741000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr6:14740800-14741000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr6:14741000-14742000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr6:14741000-14742800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:14741000-14743400	Weak transcription	Right Atrium	heart
32	chr6:14741800-14742000	Weak transcription	NHEK	skin
33	chr6:14741800-14742800	Enhancers	HMEC	breast
34	chr6:14742000-14742200	Enhancers	Placenta Amnion	Placenta Amnion
35	chr6:14742000-14742400	Enhancers	NHEK	skin
36	chr6:14742000-14743000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:14742000-14745200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr6:14742000-14746000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:14742200-14742600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr6:14742200-14743000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr6:14742200-14743000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:14742200-14743000	Enhancers	Hela-S3	cervix
43	chr6:14742200-14743000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr6:14742200-14744800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:14742200-14745000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:14742400-14744200	Flanking Active TSS	NHEK	skin
47	chr6:14742600-14744200	Enhancers	Placenta Amnion	Placenta Amnion
48	chr6:14742600-14744600	Enhancers	NHDF-Ad	bronchial
49	chr6:14742800-14743000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:14742800-14743000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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