Variant report

Variant	nsv1030774
Chromosome Location	chr6:13736025-13783733
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:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13774489..13777263-chr6:13781382..13783354,2	K562	blood:
2	chr6:13758041..13760720-chr6:13763088..13765684,2	K562	blood:
3	chr6:13738311..13740748-chr6:13742371..13744717,2	K562	blood:
4	chr6:13750883..13753815-chr6:13765180..13768175,2	K562	blood:
5	chr6:13754402..13756101-chr6:13758431..13761297,2	K562	blood:
6	chr6:13624693..13626575-chr6:13765177..13767665,2	K562	blood:
7	chr6:13782601..13784296-chr6:13792088..13794112,2	MCF-7	breast:
8	chr6:13747048..13748923-chr6:13762541..13766455,3	K562	blood:
9	chr6:13759487..13762830-chr6:13781889..13785114,3	K562	blood:
10	chr6:13733229..13735701-chr6:13742601..13744211,2	MCF-7	breast:
11	chr6:13710677..13712820-chr6:13763898..13768186,3	K562	blood:
12	chr6:13736668..13740748-chr6:13741569..13743871,3	K562	blood:
13	chr6:13711887..13713957-chr6:13747635..13751147,3	K562	blood:
14	chr6:13708990..13711800-chr6:13781741..13784395,2	K562	blood:
15	chr6:13732101..13734946-chr6:13735634..13737792,2	K562	blood:
16	chr6:13774277..13775966-chr6:13813266..13815135,2	K562	blood:
17	chr6:13711278..13712838-chr6:13745542..13747719,2	MCF-7	breast:
18	chr6:13733063..13736009-chr6:13738109..13740804,2	MCF-7	breast:
19	chr6:13754402..13756101-chr6:13758431..13761297,2	K562	blood:
20	chr6:13759597..13761313-chr6:13762057..13763667,2	K562	blood:
21	chr6:13711216..13713575-chr6:13764697..13766836,2	MCF-7	breast:
22	chr6:13712294..13715235-chr6:13734842..13736345,2	K562	blood:
23	chr6:13711847..13714774-chr6:13741208..13742857,2	K562	blood:
24	chr6:13772110..13774350-chr6:13784237..13786715,2	K562	blood:
25	chr6:13742920..13744677-chr6:13756753..13758485,2	K562	blood:
26	chr6:13740799..13743417-chr6:13745164..13747229,2	MCF-7	breast:
27	chr6:13743708..13747247-chr6:13762058..13765416,3	MCF-7	breast:
28	chr6:13736668..13740748-chr6:13741569..13743871,3	K562	blood:
29	chr6:13740799..13743417-chr6:13745164..13747229,2	MCF-7	breast:
30	chr6:13743708..13747247-chr6:13762058..13765416,3	MCF-7	breast:
31	chr6:13750883..13753815-chr6:13765180..13768175,2	K562	blood:
32	chr6:13709180..13711346-chr6:13748114..13750460,2	K562	blood:
33	chr6:13524774..13527030-chr6:13762117..13764695,2	K562	blood:
34	chr6:13758041..13760720-chr6:13763088..13765684,2	K562	blood:
35	chr6:13754250..13757011-chr6:13760480..13762806,2	K562	blood:
36	chr6:13713710..13717343-chr6:13751875..13754798,3	MCF-7	breast:
37	chr6:13616727..13618282-chr6:13770822..13773643,2	K562	blood:
38	chr6:13625404..13627006-chr6:13739192..13742116,2	MCF-7	breast:
39	chr6:13774489..13777263-chr6:13781382..13783354,2	K562	blood:
40	chr6:13759487..13762830-chr6:13781889..13785114,3	K562	blood:
41	chr6:13747048..13748923-chr6:13762541..13766455,3	K562	blood:
42	chr6:13754250..13757011-chr6:13760480..13762806,2	K562	blood:
43	chr6:13759597..13761313-chr6:13762057..13763667,2	K562	blood:
44	chr6:13738311..13740748-chr6:13742371..13744717,2	K562	blood:
45	chr6:13781829..13783763-chr6:13794136..13796516,2	K562	blood:
46	chr6:13742920..13744677-chr6:13756753..13758485,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000010017	chromatin interactions
ENSG00000050393	chromatin interactions

Extended variants
information (count: 1993 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1993 , 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	rs204233	chr6:13736025-13736026	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147167938	chr6:13736056-13736057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78475000	chr6:13736151-13736152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56272112	chr6:13736184-13736185	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs34626966	chr6:13736257-13736258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555357191	chr6:13736370-13736371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575323521	chr6:13736396-13736397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537884101	chr6:13736431-13736432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10080434	chr6:13736440-13736441	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs550283108	chr6:13736446-13736447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578218245	chr6:13736493-13736494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569943089	chr6:13736501-13736502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370469392	chr6:13736511-13736512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540455569	chr6:13736536-13736537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560754910	chr6:13736569-13736570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374236293	chr6:13736574-13736575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535899017	chr6:13736599-13736600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144190535	chr6:13736606-13736607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191733772	chr6:13736608-13736609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562682606	chr6:13736654-13736655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11759962	chr6:13736658-13736659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148475418	chr6:13736659-13736660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545411100	chr6:13736672-13736673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11755222	chr6:13736673-13736674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564207664	chr6:13736679-13736680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533271179	chr6:13736726-13736727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555803785	chr6:13736796-13736797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546448401	chr6:13736827-13736828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566678314	chr6:13736841-13736842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577919706	chr6:13736872-13736873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183910148	chr6:13736882-13736883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549092892	chr6:13736884-13736885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9296778	chr6:13736900-13736901	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537420917	chr6:13736905-13736906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537054603	chr6:13736921-13736922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373106385	chr6:13736927-13736928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9475227	chr6:13737010-13737011	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs534531023	chr6:13737020-13737021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554031683	chr6:13737023-13737024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112131202	chr6:13737101-13737102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573885664	chr6:13737102-13737103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542860237	chr6:13737103-13737104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142710289	chr6:13737111-13737112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534934414	chr6:13737143-13737144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116537229	chr6:13737147-13737148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554648631	chr6:13737152-13737153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545037712	chr6:13737163-13737164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565301329	chr6:13737254-13737255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200695885	chr6:13737274-13737275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150974859	chr6:13737296-13737297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Breast cancer	21364760	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:708 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13733000-13736400	Enhancers	Placenta	Placenta
2	chr6:13733600-13737400	Enhancers	Fetal Brain Male	brain
3	chr6:13734200-13736600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:13734200-13736800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:13734800-13737400	Weak transcription	Fetal Brain Female	brain
6	chr6:13735800-13736200	Enhancers	Adipose Nuclei	Adipose
7	chr6:13735800-13736800	Enhancers	Fetal Muscle Trunk	muscle
8	chr6:13736000-13736400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:13736000-13736400	Enhancers	Osteobl	bone
10	chr6:13736000-13736600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr6:13736200-13736400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:13736600-13736800	Enhancers	Fetal Muscle Leg	muscle
13	chr6:13737400-13738400	Enhancers	Fetal Brain Female	brain
14	chr6:13739000-13743200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:13742600-13742800	Enhancers	Gastric	stomach
16	chr6:13743200-13743800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:13743200-13744000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:13743200-13744000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:13743200-13744000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:13743200-13744000	Active TSS	Stomach Smooth Muscle	stomach
21	chr6:13743400-13743800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr6:13743400-13743800	Active TSS	Ovary	ovary
23	chr6:13743400-13743800	Active TSS	Pancreas	Pancrea
24	chr6:13743400-13743800	Active TSS	Thymus	Thymus
25	chr6:13743400-13743800	Active TSS	Monocytes-CD14+_RO01746	blood
26	chr6:13743800-13744600	Weak transcription	Ovary	ovary
27	chr6:13747200-13747400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:13747200-13747800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:13747200-13748800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr6:13747200-13748800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:13747200-13748800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr6:13747400-13747800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:13747400-13748200	Active TSS	A549	lung
34	chr6:13747400-13748800	Enhancers	GM12878-XiMat	blood
35	chr6:13747800-13748000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr6:13747800-13748000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:13747800-13748400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:13748000-13748200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr6:13748000-13748200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr6:13748000-13748800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:13748200-13749000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr6:13748400-13748800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:13748600-13748800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:13748800-13749400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:13749000-13752000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:13755000-13755400	Enhancers	Aorta	Aorta
47	chr6:13755000-13755400	Enhancers	Esophagus	oesophagus
48	chr6:13755200-13755600	Enhancers	Fetal Heart	heart
49	chr6:13755200-13755600	Enhancers	Fetal Muscle Leg	muscle
50	chr6:13755200-13756000	Enhancers	Stomach Smooth Muscle	stomach

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