Variant report

Variant	nsv970297
Chromosome Location	chr6:15507861-15511435
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:15510671..15512908-chr6:15620442..15621972,2	K562	blood:
2	chr6:15510919..15513805-chr6:15620470..15622071,2	K562	blood:
3	chr6:15509109..15512241-chr6:15513329..15516207,3	K562	blood:
4	chr6:15510035..15513200-chr6:15622325..15624212,4	K562	blood:
5	chr6:15500030..15502073-chr6:15506681..15509631,2	K562	blood:
6	chr6:15503488..15507338-chr6:15507850..15510659,7	K562	blood:
7	chr6:15210560..15212912-chr6:15507316..15509644,2	K562	blood:
8	chr6:15508040..15509994-chr6:15621432..15624350,2	K562	blood:
9	chr6:15503839..15505858-chr6:15508494..15510367,2	K562	blood:
10	chr6:15489579..15491671-chr6:15507006..15508555,2	MCF-7	breast:
11	chr6:15247335..15250769-chr6:15507834..15511704,4	K562	blood:
12	chr6:15511307..15514182-chr6:15633610..15635656,2	K562	blood:
13	chr6:15507513..15510488-chr6:15519639..15522000,2	MCF-7	breast:
14	chr6:15510693..15512807-chr6:15634035..15635656,2	K562	blood:
15	chr6:15496453..15502686-chr6:15502830..15509631,7	K562	blood:
16	chr6:15497600..15499927-chr6:15509005..15511322,2	K562	blood:
17	chr6:15244984..15247344-chr6:15506615..15509940,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235488	chromatin interactions
ENSG00000271888	chromatin interactions
ENSG00000008083	chromatin interactions

Extended variants
information (count: 158 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2076058	chr6:15507880-15507881	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558254995	chr6:15507898-15507899	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs571976384	chr6:15507914-15507915	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs377635233	chr6:15507941-15507942	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs143010821	chr6:15507992-15507993	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs148197114	chr6:15507994-15507995	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs548084477	chr6:15508003-15508004	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs34629883	chr6:15508024-15508025	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs531925246	chr6:15508042-15508043	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs569890262	chr6:15508088-15508089	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs2072824	chr6:15508110-15508111	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
12	rs532815184	chr6:15508231-15508232	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs115021193	chr6:15508245-15508246	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs185318770	chr6:15508257-15508258	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs35041707	chr6:15508268-15508269	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs527655899	chr6:15508284-15508285	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs547813674	chr6:15508285-15508286	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs567914867	chr6:15508295-15508296	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs536983536	chr6:15508300-15508301	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs2076057	chr6:15508315-15508316	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs17391774	chr6:15508323-15508324	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs111768285	chr6:15508329-15508330	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs372244369	chr6:15508336-15508337	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs2072823	chr6:15508352-15508353	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs367934909	chr6:15508375-15508376	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs571811098	chr6:15508459-15508460	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs534280011	chr6:15508511-15508512	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs199689401	chr6:15508544-15508545	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs146710045	chr6:15508575-15508576	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs34411544	chr6:15508644-15508645	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs35529513	chr6:15508704-15508705	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs574389670	chr6:15508716-15508717	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs377336648	chr6:15508736-15508737	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs543339967	chr6:15508789-15508790	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs530564831	chr6:15508811-15508812	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs563322248	chr6:15508850-15508851	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs145591042	chr6:15508863-15508864	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs545700669	chr6:15508883-15508884	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs115998508	chr6:15508888-15508889	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs541981685	chr6:15508905-15508906	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs190574434	chr6:15508933-15508934	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs557261601	chr6:15508966-15508967	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs564347919	chr6:15508972-15508973	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs80123814	chr6:15508990-15508991	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs138020210	chr6:15508991-15508992	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs373630142	chr6:15509006-15509007	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs530404094	chr6:15509009-15509010	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs550417099	chr6:15509014-15509015	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs115271005	chr6:15509016-15509017	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs539179913	chr6:15509020-15509021	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	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	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
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
Pancreatic cancer	17952125	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

Chromatin state (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15487200-15508000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr6:15492200-15508200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr6:15492200-15527000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:15492400-15527200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:15492600-15522200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:15492800-15515000	Strong transcription	Thymus	Thymus
7	chr6:15492800-15527000	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr6:15493800-15520000	Weak transcription	Hela-S3	cervix
9	chr6:15494200-15522400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr6:15494800-15524000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:15494800-15527000	Strong transcription	Primary B cells from peripheral blood	blood
12	chr6:15495000-15527200	Strong transcription	Dnd41	blood
13	chr6:15495000-15529200	Strong transcription	Primary T cells from cord blood	blood
14	chr6:15495200-15508400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:15495200-15525800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:15495400-15508600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr6:15495400-15525000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:15496000-15525200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr6:15496000-15525600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:15496000-15526600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr6:15496000-15528400	Strong transcription	Primary B cells from cord blood	blood
22	chr6:15496200-15508200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr6:15496600-15517000	Weak transcription	Small Intestine	intestine
24	chr6:15497400-15526600	Strong transcription	Fetal Intestine Large	intestine
25	chr6:15498400-15522600	Strong transcription	Primary hematopoietic stem cells	blood
26	chr6:15500600-15524600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:15501800-15508400	Enhancers	Left Ventricle	heart
28	chr6:15502400-15509400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:15502400-15522400	Weak transcription	A549	lung
30	chr6:15502800-15521400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:15503600-15508600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:15505200-15521600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:15505400-15508200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr6:15505400-15509200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:15505600-15515000	Genic enhancers	Right Ventricle	heart
36	chr6:15505800-15508200	Weak transcription	Fetal Brain Female	brain
37	chr6:15505800-15508800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:15505800-15509200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:15505800-15510000	Genic enhancers	H1 Cell Line	embryonic stem cell
40	chr6:15505800-15510800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:15505800-15518800	Strong transcription	Colonic Mucosa	Colon
42	chr6:15506000-15508600	Weak transcription	NH-A	brain
43	chr6:15506000-15509200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
44	chr6:15506000-15509200	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:15506000-15513800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:15506000-15514600	Weak transcription	NHDF-Ad	bronchial
47	chr6:15506000-15522000	Weak transcription	Stomach Mucosa	stomach
48	chr6:15506000-15523600	Strong transcription	NHEK	skin
49	chr6:15506000-15527000	Strong transcription	Fetal Intestine Small	intestine
50	chr6:15506200-15508000	Weak transcription	Ovary	ovary

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