Variant report

Variant	nsv603008
Chromosome Location	chr6:44958372-45081821
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44963271..44965402-chr6:44968999..44972162,3	K562	blood:
2	chr6:45054220..45054815-chr6:45386791..45387562,3	MCF-7	breast:
3	chr6:44962823..44965402-chr6:44970662..44972612,2	K562	blood:
4	chr6:44987589..44991130-chr6:44992558..44996333,3	K562	blood:
5	chr6:45038976..45040613-chr6:45043879..45046271,2	K562	blood:
6	chr6:44972423..44974259-chr6:44978944..44980911,2	K562	blood:
7	chr6:45008781..45011238-chr6:45015698..45018079,2	MCF-7	breast:
8	chr6:44962823..44965402-chr6:44970662..44972612,2	K562	blood:
9	chr12:48357281..48357866-chr6:45012051..45012551,2	Hela-S3	cervix:
10	chr6:45061664..45064501-chr6:45066770..45068668,2	K562	blood:
11	chr6:44963271..44965402-chr6:44968999..44972162,3	K562	blood:
12	chr6:45049112..45051418-chr6:45052257..45055062,3	K562	blood:
13	chr6:44974489..44977160-chr6:44980461..44983338,2	K562	blood:
14	chr6:45038976..45040613-chr6:45043879..45046271,2	K562	blood:
15	chr6:45054176..45055264-chr6:45386958..45387535,3	MCF-7	breast:
16	chr6:44987589..44991130-chr6:44992558..44996333,3	K562	blood:
17	chr6:44949240..44952197-chr6:44957383..44960219,3	K562	blood:
18	chr6:45003285..45005012-chr6:45007518..45010080,2	K562	blood:
19	chr6:45049112..45051418-chr6:45052257..45055062,3	K562	blood:
20	chr6:45003285..45005012-chr6:45007518..45010080,2	K562	blood:
21	chr6:45071425..45074350-chr6:45080859..45082948,2	MCF-7	breast:
22	chr6:44974489..44977160-chr6:44980461..44983338,2	K562	blood:
23	chr6:44443174..44444085-chr6:45053756..45054587,2	MCF-7	breast:
24	chr6:44996729..44999425-chr6:45119837..45121459,2	K562	blood:
25	chr6:44987108..44989743-chr6:44993654..44995647,2	K562	blood:
26	chr6:44972423..44974259-chr6:44978944..44980911,2	K562	blood:
27	chr6:45071425..45074350-chr6:45080859..45082948,2	MCF-7	breast:
28	chr6:45008781..45011238-chr6:45015698..45018079,2	MCF-7	breast:
29	chr6:44987108..44989743-chr6:44993654..44995647,2	K562	blood:
30	chr6:45061664..45064501-chr6:45066770..45068668,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134291	chromatin interactions

Extended variants
information (count: 3992 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:3992 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9369527	chr6:44958372-44958373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575068462	chr6:44958375-44958376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560762020	chr6:44958447-44958448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576645149	chr6:44958517-44958518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572716029	chr6:44958574-44958575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371748290	chr6:44958602-44958603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370122477	chr6:44958605-44958606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546383529	chr6:44958609-44958610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34299745	chr6:44958630-44958631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs397755927	chr6:44958634-44958635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184763044	chr6:44958753-44958754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559065689	chr6:44958774-44958775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564496518	chr6:44958778-44958779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532251988	chr6:44958820-44958821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550391745	chr6:44958847-44958848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562172645	chr6:44958884-44958885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189488498	chr6:44958916-44958917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540972006	chr6:44959084-44959085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553626151	chr6:44959094-44959095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566441165	chr6:44959113-44959114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560579383	chr6:44959140-44959141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552369139	chr6:44959156-44959157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111825620	chr6:44959183-44959184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144455291	chr6:44959247-44959248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71799934	chr6:44959258-44959259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568627764	chr6:44959259-44959260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147363941	chr6:44959300-44959301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145675325	chr6:44959343-44959344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574930675	chr6:44959348-44959349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10948196	chr6:44959384-44959385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530148953	chr6:44959391-44959392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554166595	chr6:44959414-44959415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370796120	chr6:44959415-44959416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147313964	chr6:44959422-44959423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs16873015	chr6:44959460-44959461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs148776919	chr6:44959467-44959468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542187951	chr6:44959516-44959517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142386339	chr6:44959535-44959536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9885623	chr6:44959807-44959808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs544584243	chr6:44959824-44959825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562235878	chr6:44959828-44959829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368165237	chr6:44959851-44959852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180768408	chr6:44959861-44959862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547786552	chr6:44959886-44959887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559689296	chr6:44959887-44959888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527599064	chr6:44959901-44959902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549936834	chr6:44959972-44959973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370833150	chr6:44960011-44960012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374015686	chr6:44960016-44960017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs151296652	chr6:44960033-44960034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:497 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44947800-44962000	Weak transcription	Pancreas	Pancrea
2	chr6:44951200-44980800	Weak transcription	Aorta	Aorta
3	chr6:44955600-44968400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:44963400-44964600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:44963600-44964600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:44964600-44981400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:44964600-44983600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:44965600-44978600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:44965800-44983400	Weak transcription	Primary B cells from cord blood	blood
10	chr6:44966000-44968600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:44966400-44993600	Weak transcription	HepG2	liver
12	chr6:44968400-44970600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr6:44968400-44970800	Enhancers	Primary T cells from cord blood	blood
14	chr6:44968400-44971200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:44968400-44971400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr6:44968400-44971400	Enhancers	Dnd41	blood
17	chr6:44968600-44970600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr6:44968600-44970800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr6:44968600-44970800	Enhancers	GM12878-XiMat	blood
20	chr6:44968600-44971000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr6:44968600-44971200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:44968600-44971200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:44968600-44971400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:44968800-44969000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:44968800-44969200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr6:44968800-44969800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:44969000-44969200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr6:44969200-44970400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr6:44969400-44970000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:44969600-44979600	Weak transcription	Ovary	ovary
31	chr6:44969800-44970000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr6:44970200-44971000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr6:44970400-44970600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr6:44970600-44971600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr6:44970600-44979800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr6:44970800-44971200	Weak transcription	Primary T cells from cord blood	blood
37	chr6:44970800-44971600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr6:44970800-44988600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr6:44970800-44989000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:44971000-44971800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr6:44971200-44971400	Enhancers	Primary T cells from cord blood	blood
42	chr6:44971200-44971400	Enhancers	Primary hematopoietic stem cells	blood
43	chr6:44971200-44971600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:44971400-44979600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr6:44971400-44980400	Weak transcription	Dnd41	blood
46	chr6:44971400-44988800	Weak transcription	Primary T cells from cord blood	blood
47	chr6:44971800-44972000	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr6:44972000-44983800	Weak transcription	Adipose Nuclei	Adipose
49	chr6:44974800-45004600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:44975000-44983800	Weak transcription	Brain Anterior Caudate	brain

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