Variant report

Variant	esv2757157
Chromosome Location	chr6:15668867-15725478
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:105)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:105 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr6:15678826..15681687-chr6:16136285..16138589,3	K562	blood:
2	chr6:15696754..15698975-chr6:15892314..15894571,2	K562	blood:
3	chr6:15707898..15710276-chr6:15713020..15715412,2	K562	blood:
4	chr6:15672759..15682190-chr6:16128127..16132961,11	K562	blood:
5	chr6:15691382..15692187-chr6:16036682..16037471,3	MCF-7	breast:
6	chr6:15687288..15693257-chr6:16127517..16131016,8	K562	blood:
7	chr6:15711716..15714538-chr6:15724011..15725713,2	K562	blood:
8	chr6:15668138..15670397-chr6:15673156..15674994,2	K562	blood:
9	chr6:15667725..15669780-chr6:16137146..16139008,2	K562	blood:
10	chr6:15689083..15690999-chr6:16131882..16134165,2	K562	blood:
11	chr6:15695993..15699402-chr6:16128189..16132296,4	K562	blood:
12	chr6:15686242..15688880-chr6:15691006..15692946,2	K562	blood:
13	chr6:15696889..15699233-chr6:16129184..16131192,3	MCF-7	breast:
14	chr6:15722743..15725547-chr6:16128093..16130865,2	K562	blood:
15	chr6:15672874..15675125-chr6:15675945..15678266,2	K562	blood:
16	chr6:15712668..15715344-chr6:15716824..15719119,3	K562	blood:
17	chr6:15684844..15687441-chr6:15880155..15881679,2	K562	blood:
18	chr6:15661115..15663685-chr6:15668831..15671909,4	K562	blood:
19	chr6:15688875..15695962-chr6:16127988..16134034,16	MCF-7	breast:
20	chr6:15698629..15701193-chr6:15707870..15711464,3	K562	blood:
21	chr6:15671431..15674157-chr6:16140137..16142254,2	K562	blood:
22	chr6:15690815..15692594-chr6:16152230..16153735,2	K562	blood:
23	chr6:15691598..15692189-chr6:15752757..15753288,2	MCF-7	breast:
24	chr6:15710538..15713074-chr6:16127901..16130794,2	MCF-7	breast:
25	chr6:15691207..15692253-chr6:16128861..16130251,7	MCF-7	breast:
26	chr6:15687375..15689354-chr6:15694199..15696327,2	MCF-7	breast:
27	chr6:15674092..15676465-chr6:16128146..16130347,2	MCF-7	breast:
28	chr6:15699736..15701337-chr6:16129542..16132196,2	K562	blood:
29	chr6:15691223..15691812-chr6:15803377..15804019,2	K562	blood:
30	chr6:15687375..15689354-chr6:15694199..15696327,2	MCF-7	breast:
31	chr6:15691225..15691779-chr6:15754462..15755009,2	MCF-7	breast:
32	chr6:15691148..15692183-chr6:16168724..16169738,7	MCF-7	breast:
33	chr6:15676527..15678703-chr6:16128031..16129735,2	MCF-7	breast:
34	chr6:15698629..15701193-chr6:15707870..15711464,3	K562	blood:
35	chr6:15696534..15698771-chr6:15883531..15885390,2	K562	blood:
36	chr6:15690648..15692191-chr6:16182692..16184675,12	K562	blood:
37	chr6:15691192..15692197-chr6:16277250..16278145,4	K562	blood:
38	chr6:15711716..15714538-chr6:15724011..15725713,2	K562	blood:
39	chr6:15691141..15692187-chr6:16128576..16130145,22	MCF-7	breast:
40	chr6:15692594..15695303-chr6:15695960..15699366,3	K562	blood:
41	chr6:15676701..15679445-chr6:16128067..16130744,3	K562	blood:
42	chr6:15691300..15692107-chr6:16168761..16169885,4	MCF-7	breast:
43	chr6:15691584..15692147-chr6:16171307..16172061,2	MCF-7	breast:
44	chr6:15678420..15680634-chr6:15684808..15686738,2	K562	blood:
45	chr6:15691113..15692695-chr6:16128540..16129716,25	MCF-7	breast:
46	chr6:15708630..15712705-chr6:16139075..16141924,3	K562	blood:
47	chr6:15699837..15703207-chr6:16128795..16131066,3	K562	blood:
48	chr6:15686130..15687986-chr6:16130553..16132331,2	MCF-7	breast:
49	chr6:15670461..15672032-chr6:15680372..15682046,2	K562	blood:
50	chr6:15681708..15684305-chr6:15689801..15691675,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTNBP1-1	chr6:15682235-15682336	XLOC_005620
2	lnc-DTNBP1-2	chr6:15695349-15695670	XLOC_005621
3	lnc-DTNBP1-7	chr6:15708809-15709169	NONHSAT107877
4	lnc-DTNBP1-1	chr6:15674470-15675115	XLOC_005620
5	lnc-DTNBP1-7	chr6:15708733-15708781	NONHSAT107877
6	lnc-DTNBP1-7	chr6:15725264-15726229	NONHSAT107877

No data

Variant related genes	Relation type
ENSG00000216364	chromatin interactions
ENSG00000047579	chromatin interactions
ENSG00000007944	chromatin interactions
ENSG00000271888	chromatin interactions
ENSG00000263712	chromatin interactions

Extended variants
information (count: 1988 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:1988 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs742207	chr6:15668867-15668868	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142884789	chr6:15668868-15668869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547575924	chr6:15668898-15668899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs79253170	chr6:15668901-15668902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182823825	chr6:15668937-15668938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549534816	chr6:15668959-15668960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140002107	chr6:15668977-15668978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538564826	chr6:15668995-15668996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552453289	chr6:15669004-15669005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs115793770	chr6:15669041-15669042	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs3070175	chr6:15669052-15669053	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs200122088	chr6:15669053-15669054	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs143589236	chr6:15669294-15669295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs742206	chr6:15669298-15669299	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs188172743	chr6:15669343-15669344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs150896414	chr6:15669392-15669393	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369467781	chr6:15669408-15669409	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536718251	chr6:15669428-15669429	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs541013177	chr6:15669469-15669470	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs885773	chr6:15669486-15669487	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs538426370	chr6:15669489-15669490	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545000594	chr6:15669498-15669499	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs377750583	chr6:15669539-15669540	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565278367	chr6:15669610-15669611	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572389068	chr6:15669611-15669612	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs555167353	chr6:15669624-15669625	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs561505210	chr6:15669631-15669632	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529766839	chr6:15669638-15669639	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs148240524	chr6:15669642-15669643	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs373621852	chr6:15669653-15669654	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549805831	chr6:15669677-15669678	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs563141120	chr6:15669695-15669696	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs532179374	chr6:15669735-15669736	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547901957	chr6:15669816-15669817	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs552190938	chr6:15669817-15669818	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs566010380	chr6:15669829-15669830	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191423470	chr6:15669862-15669863	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2769564	chr6:15669871-15669872	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs568208086	chr6:15669882-15669883	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs182519493	chr6:15669908-15669909	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs34650059	chr6:15669961-15669962	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs75235891	chr6:15669970-15669971	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs576452136	chr6:15669995-15669996	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs187556292	chr6:15670014-15670015	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs150031591	chr6:15670043-15670044	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs369854057	chr6:15670071-15670072	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192035103	chr6:15670079-15670080	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373203640	chr6:15670138-15670139	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs145367053	chr6:15670168-15670169	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs142058839	chr6:15670194-15670195	Inactive region	Chromatin interactive region	1 gene(s)	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	21364760	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
Breast cancer	17142309	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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15668600-15669400	Weak transcription	K562	blood
2	chr6:15669400-15669600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:15669400-15669600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
4	chr6:15669400-15669600	Enhancers	K562	blood
5	chr6:15671400-15672200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr6:15671800-15672600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr6:15671800-15673400	Enhancers	Fetal Muscle Leg	muscle
8	chr6:15671800-15674800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr6:15672000-15673200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr6:15672000-15673600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:15672200-15672400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:15672200-15672600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr6:15672200-15672800	Enhancers	Psoas Muscle	Psoas
14	chr6:15672200-15673200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:15672400-15672800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:15672400-15672800	Enhancers	Esophagus	oesophagus
17	chr6:15672400-15675200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:15672600-15672800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:15672600-15674800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr6:15672800-15674400	Weak transcription	Psoas Muscle	Psoas
21	chr6:15672800-15674600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:15672800-15674800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:15672800-15677200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:15673200-15674400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr6:15673200-15674600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:15673200-15677400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:15673400-15673800	Weak transcription	Fetal Muscle Leg	muscle
28	chr6:15673600-15674000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr6:15673800-15676400	Enhancers	Fetal Muscle Leg	muscle
30	chr6:15674000-15674200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
31	chr6:15674000-15677000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr6:15674400-15675000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr6:15674400-15675200	Enhancers	Fetal Muscle Trunk	muscle
34	chr6:15674400-15676600	Enhancers	Psoas Muscle	Psoas
35	chr6:15674600-15676400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr6:15674600-15676600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:15674800-15675200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr6:15674800-15675600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr6:15674800-15675800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr6:15674800-15676200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:15674800-15676600	Enhancers	Primary hematopoietic stem cells	blood
42	chr6:15674800-15676600	Enhancers	Brain Anterior Caudate	brain
43	chr6:15674800-15676800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:15675000-15675200	Bivalent Enhancer	Small Intestine	intestine
45	chr6:15675000-15675400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr6:15675000-15675800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr6:15675000-15675800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr6:15675000-15675800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:15675000-15675800	Enhancers	K562	blood
50	chr6:15675000-15676000	Enhancers	HUES64 Cell Line	embryonic stem cell

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