Variant report

Variant	esv1842967
Chromosome Location	chr6:16866948-16885869
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:2)
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	chr6:16868650..16871366-chr6:16871542..16874154,2	K562	blood:
2	chr6:16866282..16868512-chr6:16869553..16872906,3	K562	blood:
3	chr6:16866282..16868512-chr6:16869553..16872906,3	K562	blood:
4	chr6:16868650..16871366-chr6:16871542..16874154,2	K562	blood:
5	chr6:16871325..16873690-chr6:16876965..16879367,2	MCF-7	breast:
6	chr6:16871325..16873690-chr6:16876965..16879367,2	MCF-7	breast:
7	chr17:56708145..56709731-chr6:16869671..16871989,2	MCF-7	breast:
8	chr6:16825724..16828352-chr6:16882552..16885274,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP3-486B10.1.1-3	chr6:16870562-16871159	expReg_chr6_1351_+
2	lnc-RP3-486B10.1.1-2	chr6:16874358-16874705	expReg_chr6_1362_+

No data

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 314 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189842873	chr6:16868029-16868030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573939159	chr6:16868030-16868031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532772986	chr6:16868079-16868080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372110093	chr6:16868095-16868096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs770935	chr6:16868111-16868112	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181869653	chr6:16868117-16868118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554997732	chr6:16868145-16868146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187198651	chr6:16868166-16868167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537330882	chr6:16868188-16868189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556598529	chr6:16868206-16868207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556996755	chr6:16868223-16868224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576935181	chr6:16868224-16868225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191679461	chr6:16868226-16868227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs797579	chr6:16868237-16868238	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs200839465	chr6:16868253-16868254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568742165	chr6:16868262-16868263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183497870	chr6:16868301-16868302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188153047	chr6:16868325-16868326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561707821	chr6:16868327-16868328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530448840	chr6:16868333-16868334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191095763	chr6:16868347-16868348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs58151016	chr6:16868348-16868349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115195158	chr6:16868401-16868402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545487941	chr6:16868420-16868421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532712705	chr6:16868433-16868434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539056007	chr6:16868486-16868487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552807176	chr6:16868512-16868513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564061053	chr6:16868551-16868552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566322002	chr6:16868571-16868572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528582032	chr6:16868625-16868626	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs548422939	chr6:16868641-16868642	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs572747102	chr6:16868689-16868690	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs554906493	chr6:16868713-16868714	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs568414980	chr6:16868789-16868790	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs537066581	chr6:16868801-16868802	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs770936	chr6:16868867-16868868	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs369473105	chr6:16868876-16868877	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs561749910	chr6:16868906-16868907	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs570419620	chr6:16868909-16868910	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs182802367	chr6:16868943-16868944	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs552742401	chr6:16869009-16869010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140415825	chr6:16869024-16869025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145519157	chr6:16869025-16869026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555190562	chr6:16869043-16869044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138030130	chr6:16869049-16869050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114781300	chr6:16869060-16869061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529127882	chr6:16869137-16869138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs770937	chr6:16869138-16869139	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577607454	chr6:16869139-16869140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113144093	chr6:16869169-16869170	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
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
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian cancer	20844748	CNVD
Developmental delay	19490664	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21248843	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:16868000-16869600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:16868600-16869000	Bivalent Enhancer	K562	blood
3	chr6:16868600-16869800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:16868800-16869600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:16868800-16869800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:16868800-16869800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:16869200-16869400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:16869200-16869400	Bivalent Enhancer	A549	lung
9	chr6:16869200-16869600	Enhancers	NHEK	skin
10	chr6:16869200-16870000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:16869400-16869800	Enhancers	Hela-S3	cervix
12	chr6:16869800-16871800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:16870000-16870200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:16870000-16871200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:16870600-16871000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:16870600-16871200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:16870800-16871200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr6:16871200-16873000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:16871800-16872000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:16871800-16872800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:16872200-16873200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:16872600-16874000	Enhancers	Primary hematopoietic stem cells	blood
23	chr6:16872800-16873600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:16873000-16873400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:16873000-16873400	Enhancers	K562	blood
26	chr6:16873000-16874200	Enhancers	HSMMtube	muscle
27	chr6:16873200-16873800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr6:16873200-16874200	Enhancers	Fetal Muscle Leg	muscle
29	chr6:16873400-16874200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:16873600-16875400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:16883200-16883600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:16884600-16886000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:16884600-16886000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr6:16884600-16886400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr6:16884600-16886400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr6:16884800-16885200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr6:16884800-16885400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr6:16884800-16885600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr6:16884800-16885600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:16885000-16886600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
41	chr6:16885600-16886000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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