Variant report

Variant	esv2759409
Chromosome Location	chr6:16873271-16912538
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:3)
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	chr6:16912538..16915353-chr6:16915884..16918109,2	K562	blood:
2	chr6:16871325..16873690-chr6:16876965..16879367,2	MCF-7	breast:
3	chr6:16871325..16873690-chr6:16876965..16879367,2	MCF-7	breast:
4	chr6:16908248..16910653-chr6:16919483..16921890,2	MCF-7	breast:
5	chr6:16868650..16871366-chr6:16871542..16874154,2	K562	blood:
6	chr6:16901093..16901706-chr7:54279817..54280623,2	MCF-7	breast:
7	chr6:16825724..16828352-chr6:16882552..16885274,2	MCF-7	breast:
8	chr6:16906201..16908225-chr6:16918058..16920202,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP3-486B10.1.1-2	chr6:16874358-16874705	expReg_chr6_1362_+
2	lnc-ATXN1-4	chr6:16886520-16886630	NONHSAT107911
3	lnc-ATXN1-4	chr6:16886711-16886818	NONHSAT107911

No data

Extended variants
information (count: 1073 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:1073 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540242147	chr6:16873271-16873272	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs188942026	chr6:16873280-16873281	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs541222497	chr6:16873366-16873367	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs560968774	chr6:16873394-16873395	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs529784360	chr6:16873433-16873434	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs193057379	chr6:16873434-16873435	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs562923084	chr6:16873458-16873459	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs562657283	chr6:16873485-16873486	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs376254119	chr6:16873490-16873491	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs368498269	chr6:16873551-16873552	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs116303726	chr6:16873554-16873555	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs534268677	chr6:16873555-16873556	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs547961238	chr6:16873588-16873589	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs567800136	chr6:16873627-16873628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185819604	chr6:16873628-16873629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370445229	chr6:16873655-16873656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556405507	chr6:16873668-16873669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570034247	chr6:16873670-16873671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140995125	chr6:16873692-16873693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77925239	chr6:16873726-16873727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551698350	chr6:16873727-16873728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572364854	chr6:16873759-16873760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541005377	chr6:16873808-16873809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554732603	chr6:16873816-16873817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574573979	chr6:16873821-16873822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79987985	chr6:16873870-16873871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35807416	chr6:16873913-16873914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188333954	chr6:16873937-16873938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9477241	chr6:16873952-16873953	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs192112313	chr6:16873961-16873962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558964838	chr6:16873981-16873982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527972131	chr6:16874090-16874091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548929914	chr6:16874117-16874118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183837023	chr6:16874126-16874127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567429133	chr6:16874159-16874160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567822269	chr6:16874178-16874179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372141386	chr6:16874204-16874205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530248472	chr6:16874211-16874212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1617072	chr6:16874219-16874220	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs570164119	chr6:16874234-16874235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9370931	chr6:16874250-16874251	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs558980199	chr6:16874296-16874297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150206562	chr6:16874313-16874314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138733329	chr6:16874336-16874337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1617978	chr6:16874356-16874357	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs574538905	chr6:16874428-16874429	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs199899528	chr6:16874431-16874432	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs5874581	chr6:16874432-16874433	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs78118983	chr6:16874444-16874445	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs575498632	chr6:16874489-16874490	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21248843	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:16872600-16874000	Enhancers	Primary hematopoietic stem cells	blood
2	chr6:16872800-16873600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:16873000-16873400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:16873000-16873400	Enhancers	K562	blood
5	chr6:16873000-16874200	Enhancers	HSMMtube	muscle
6	chr6:16873200-16873800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr6:16873200-16874200	Enhancers	Fetal Muscle Leg	muscle
8	chr6:16873400-16874200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:16873600-16875400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:16883200-16883600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:16884600-16886000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:16884600-16886000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:16884600-16886400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:16884600-16886400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr6:16884800-16885200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr6:16884800-16885400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:16884800-16885600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:16884800-16885600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:16885000-16886600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr6:16885600-16886000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr6:16886000-16886200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr6:16886000-16886400	Enhancers	K562	blood
23	chr6:16886200-16886600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:16886400-16891200	Weak transcription	K562	blood
25	chr6:16886600-16890000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr6:16886600-16890600	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr6:16888600-16890600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr6:16889000-16889400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr6:16889400-16889800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr6:16889400-16889800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr6:16889400-16890200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:16889400-16890200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:16889800-16890600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr6:16890000-16890400	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr6:16890400-16890600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr6:16890400-16890600	Active TSS	H9 Cell Line	embryonic stem cell
37	chr6:16890400-16890600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:16890600-16891800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:16890600-16892000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:16891200-16892400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:16891200-16892400	Enhancers	K562	blood
42	chr6:16891800-16893200	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr6:16892000-16892400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:16896800-16897000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:16896800-16897200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:16897200-16898800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:16897200-16903200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:16898200-16910600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:16898600-16899600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr6:16898800-16899200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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