Variant report

Variant	nsv603006
Chromosome Location	chr6:44428506-44449697
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:39)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44444523..44446527-chr6:44449929..44452433,2	K562	blood:
2	chr6:44445216..44446819-chr6:44448309..44449883,2	K562	blood:
3	chr6:44420357..44422515-chr6:44433684..44436230,2	K562	blood:
4	chr6:44398980..44399515-chr6:44437258..44438078,2	MCF-7	breast:
5	chr6:44436258..44440979-chr6:44441987..44444990,5	K562	blood:
6	chr6:44423082..44425791-chr6:44432215..44434664,2	K562	blood:
7	chr6:44300089..44302816-chr6:44427663..44430337,2	K562	blood:
8	chr6:44439479..44441221-chr6:44441987..44444442,2	K562	blood:
9	chr6:44445216..44446819-chr6:44448309..44449883,2	K562	blood:
10	chr6:44439479..44441221-chr6:44441987..44444442,2	K562	blood:
11	chr6:44424482..44427083-chr6:44435106..44437483,2	K562	blood:
12	chr6:44443535..44445771-chr6:44611397..44614174,2	MCF-7	breast:
13	chr6:44443511..44444073-chr6:44461893..44462618,3	MCF-7	breast:
14	chr6:44441495..44443900-chr6:44460789..44462703,2	K562	blood:
15	chr6:44391027..44393883-chr6:44436519..44438149,2	K562	blood:
16	chr6:44442941..44444105-chr6:44612752..44613952,7	MCF-7	breast:
17	chr6:44417252..44422229-chr6:44425424..44429511,4	K562	blood:
18	chr6:44437383..44438122-chr6:44461711..44462395,4	MCF-7	breast:
19	chr6:44443194..44444066-chr6:44612712..44613289,2	K562	blood:
20	chr6:44442445..44447708-chr6:44448883..44454156,7	K562	blood:
21	chr6:44437071..44439367-chr6:44444292..44446724,2	K562	blood:
22	chr6:44442588..44445114-chr6:44456905..44459288,2	MCF-7	breast:
23	chr6:44443305..44444149-chr6:44612776..44613599,4	MCF-7	breast:
24	chr6:44398764..44401371-chr6:44442725..44444644,2	K562	blood:
25	chr6:44437604..44439471-chr6:44442084..44443987,2	K562	blood:
26	chr6:44441691..44443729-chr6:44564555..44566967,2	MCF-7	breast:
27	chr6:44437604..44439471-chr6:44442084..44443987,2	K562	blood:
28	chr6:44443149..44444048-chr6:45890206..45890910,3	K562	blood:
29	chr6:44443174..44444085-chr6:45053756..45054587,2	MCF-7	breast:
30	chr6:44398583..44399484-chr6:44437679..44438221,2	K562	blood:
31	chr6:44235852..44236696-chr6:44437202..44438131,2	MCF-7	breast:
32	chr6:44437071..44439367-chr6:44444292..44446724,2	K562	blood:
33	chr6:44442445..44447708-chr6:44448883..44454156,7	K562	blood:
34	chr6:44442269..44443216-chr6:44612778..44613581,2	MCF-7	breast:
35	chr6:44444712..44445960-chr6:44612432..44613653,3	K562	blood:
36	chr6:44425423..44427943-chr6:44442829..44445117,2	K562	blood:
37	chr6:44443146..44444036-chr6:45682199..45683153,3	K562	blood:
38	chr6:44423031..44426172-chr6:44427931..44431207,4	K562	blood:
39	chr6:44436258..44440979-chr6:44441987..44444990,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AARS2-2	chr6:44446537-44446886	NONHSAT112964

No data

Variant related genes	Relation type
ENSG00000267849	chromatin interactions

Extended variants
information (count: 827 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:827 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16869089	chr6:44428506-44428507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552642525	chr6:44428528-44428529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570818718	chr6:44428616-44428617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531761242	chr6:44428639-44428640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550228225	chr6:44428646-44428647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568756162	chr6:44428651-44428652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536186373	chr6:44428722-44428723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76415069	chr6:44428775-44428776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566269530	chr6:44428864-44428865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77113159	chr6:44428934-44428935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546363120	chr6:44429015-44429016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34431320	chr6:44429025-44429026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs9296432	chr6:44429029-44429030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs543781587	chr6:44429037-44429038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555772732	chr6:44429041-44429042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574380236	chr6:44429075-44429076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188566037	chr6:44429099-44429100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368999037	chr6:44429131-44429132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193233118	chr6:44429163-44429164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527490849	chr6:44429164-44429165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183399093	chr6:44429172-44429173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564551513	chr6:44429175-44429176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372524028	chr6:44429176-44429177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187814392	chr6:44429200-44429201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528443800	chr6:44429207-44429208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568515572	chr6:44429219-44429220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148138688	chr6:44429225-44429226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551504339	chr6:44429228-44429229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534522876	chr6:44429234-44429235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566110100	chr6:44429251-44429252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575169143	chr6:44429290-44429291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542304966	chr6:44429294-44429295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540043495	chr6:44429296-44429297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111695921	chr6:44429297-44429298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367874566	chr6:44429304-44429305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140038025	chr6:44429305-44429306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540345624	chr6:44429308-44429309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142705699	chr6:44429316-44429317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532784952	chr6:44429328-44429329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201663883	chr6:44429329-44429330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141912303	chr6:44429332-44429333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78163320	chr6:44429336-44429337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555735903	chr6:44429370-44429371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574377180	chr6:44429391-44429392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535348516	chr6:44429418-44429419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530917501	chr6:44429425-44429426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554049872	chr6:44429439-44429440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572278836	chr6:44429443-44429444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191166638	chr6:44429444-44429445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183630622	chr6:44429457-44429458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44396600-44432800	Weak transcription	Fetal Kidney	kidney
2	chr6:44416200-44432400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:44416400-44430800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:44420600-44430200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:44420800-44430600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:44420800-44432400	Weak transcription	Fetal Lung	lung
7	chr6:44422400-44431800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:44422400-44432000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:44424800-44430000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:44424800-44430200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:44424800-44431800	Weak transcription	Right Atrium	heart
12	chr6:44424800-44439400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:44425000-44437800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:44425600-44430800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:44425800-44430200	Weak transcription	Ovary	ovary
16	chr6:44426200-44429800	Weak transcription	K562	blood
17	chr6:44426400-44430200	Weak transcription	Spleen	Spleen
18	chr6:44426600-44430800	Weak transcription	HSMM	muscle
19	chr6:44428400-44429400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:44429400-44429600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:44429400-44433600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr6:44429600-44430200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:44429800-44430000	Enhancers	K562	blood
24	chr6:44430000-44430200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:44430000-44430400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:44430000-44430400	Flanking Active TSS	K562	blood
27	chr6:44430000-44430600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:44430200-44430400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:44430200-44430600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:44430200-44431600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:44430200-44433200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:44430200-44433200	Enhancers	Spleen	Spleen
33	chr6:44430200-44433400	Enhancers	Ovary	ovary
34	chr6:44430400-44431200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:44430400-44431600	Enhancers	K562	blood
36	chr6:44430400-44433400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:44430600-44431800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:44430600-44433400	Enhancers	HSMMtube	muscle
39	chr6:44430600-44439400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:44430800-44431400	Enhancers	Primary hematopoietic stem cells	blood
41	chr6:44430800-44431600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:44430800-44433200	Enhancers	HSMM	muscle
43	chr6:44431200-44433200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:44431400-44432200	Enhancers	Fetal Muscle Leg	muscle
45	chr6:44431400-44432200	Bivalent Enhancer	HepG2	liver
46	chr6:44431400-44433000	Enhancers	Placenta Amnion	Placenta Amnion
47	chr6:44431400-44433800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:44431600-44433600	Enhancers	Fetal Heart	heart
49	chr6:44431600-44436800	Weak transcription	K562	blood
50	chr6:44431800-44432000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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