Variant report

Variant	nsv522098
Chromosome Location	chr6:37532103-37545923
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:28)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37534160..37535915-chr6:37545262..37547112,2	K562	blood:
2	chr6:37526579..37529682-chr6:37532707..37536538,3	K562	blood:
3	chr6:37451478..37453334-chr6:37536422..37539056,2	MCF-7	breast:
4	chr6:37293251..37294171-chr6:37534349..37535116,2	K562	blood:
5	chr6:37505371..37506520-chr6:37533735..37534780,10	MCF-7	breast:
6	chr6:37534690..37536873-chr6:37542590..37544739,2	MCF-7	breast:
7	chr6:37453002..37453640-chr6:37533828..37534757,2	MCF-7	breast:
8	chr6:37539685..37542542-chr6:37546047..37547576,2	K562	blood:
9	chr6:37536709..37539290-chr6:37640782..37642683,2	MCF-7	breast:
10	chr6:37391304..37393328-chr6:37535749..37538149,2	MCF-7	breast:
11	chr6:37534690..37536873-chr6:37542590..37544739,2	MCF-7	breast:
12	chr6:37451662..37452653-chr6:37533854..37534717,5	MCF-7	breast:
13	chr6:37451515..37452625-chr6:37533585..37534691,7	K562	blood:
14	chr6:37534160..37535915-chr6:37545262..37547112,2	K562	blood:
15	chr6:37527326..37529489-chr6:37534406..37536538,2	K562	blood:
16	chr6:37544738..37547399-chr6:37555553..37558096,2	MCF-7	breast:
17	chr6:37533861..37534723-chr6:37659470..37659989,2	MCF-7	breast:
18	chr6:37536721..37538637-chr6:37643593..37645341,2	K562	blood:
19	chr6:37391727..37394301-chr6:37541639..37543938,2	K562	blood:
20	chr6:37538192..37539787-chr6:37543021..37546042,3	MCF-7	breast:
21	chr6:37536776..37539580-chr6:37592890..37596522,3	MCF-7	breast:
22	chr6:37533836..37534804-chr6:37659393..37660358,2	MCF-7	breast:
23	chr6:37349377..37349903-chr6:37533897..37534789,2	K562	blood:
24	chr6:37533306..37535085-chr6:37536114..37538057,2	K562	blood:
25	chr6:37505588..37506541-chr6:37533884..37534986,5	MCF-7	breast:
26	chr6:37538192..37539787-chr6:37543021..37546042,3	MCF-7	breast:
27	chr6:37293289..37294121-chr6:37533832..37534578,2	MCF-7	breast:
28	chr6:37533306..37535085-chr6:37536114..37538057,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL353597.1-5	chr6:37535492-37539236	NONHSAT112275

No data

Extended variants
information (count: 577 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9394438	chr6:37532103-37532104	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs181187412	chr6:37532142-37532143	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs72857324	chr6:37532152-37532153	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs185491779	chr6:37532193-37532194	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs146043321	chr6:37532195-37532196	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs139790652	chr6:37532290-37532291	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs572581203	chr6:37532303-37532304	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs541632309	chr6:37532314-37532315	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs561289910	chr6:37532315-37532316	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs569084417	chr6:37532340-37532341	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs142062079	chr6:37532401-37532402	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34310765	chr6:37532429-37532430	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371080829	chr6:37532467-37532468	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73730791	chr6:37532484-37532485	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs34913924	chr6:37532550-37532551	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564365473	chr6:37532688-37532689	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551848134	chr6:37532708-37532709	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116267431	chr6:37532716-37532717	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6457998	chr6:37532727-37532728	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs55653411	chr6:37532754-37532755	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs547580584	chr6:37532832-37532833	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150736885	chr6:37532836-37532837	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534179394	chr6:37532871-37532872	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553765363	chr6:37532911-37532912	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536195843	chr6:37532917-37532918	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9470620	chr6:37533030-37533031	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs536549943	chr6:37533041-37533042	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs556297526	chr6:37533043-37533044	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs7743514	chr6:37533062-37533063	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs139100262	chr6:37533093-37533094	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs545302727	chr6:37533115-37533116	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs149913678	chr6:37533155-37533156	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs372028066	chr6:37533158-37533159	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs117202320	chr6:37533199-37533200	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs1418867	chr6:37533202-37533203	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575083014	chr6:37533270-37533271	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11751671	chr6:37533294-37533295	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs563953834	chr6:37533327-37533328	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576132266	chr6:37533382-37533383	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147713848	chr6:37533412-37533413	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs34476884	chr6:37533419-37533420	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs142583911	chr6:37533428-37533429	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs112333390	chr6:37533429-37533430	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs547176083	chr6:37533444-37533445	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs561176828	chr6:37533496-37533497	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs34612414	chr6:37533558-37533559	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs577870477	chr6:37533567-37533568	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs529824578	chr6:37533569-37533570	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs549693760	chr6:37533669-37533670	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs569637692	chr6:37533715-37533716	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Acute myeloid leukemia	20729466	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
Oral squamous cell carcinoma	17134496	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37510800-37533800	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:37521200-37533800	Enhancers	Primary B cells from cord blood	blood
3	chr6:37522200-37533600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:37528200-37533000	Enhancers	Brain Germinal Matrix	brain
5	chr6:37528400-37532400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:37528400-37533400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr6:37528400-37533600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:37528400-37533800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr6:37528600-37533800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr6:37528600-37533800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr6:37528800-37532400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:37528800-37532800	Weak transcription	Brain Angular Gyrus	brain
13	chr6:37528800-37533200	Weak transcription	Brain Anterior Caudate	brain
14	chr6:37528800-37533200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:37528800-37535600	Enhancers	Fetal Brain Male	brain
16	chr6:37529200-37533600	Weak transcription	Spleen	Spleen
17	chr6:37530000-37532400	Weak transcription	Fetal Brain Female	brain
18	chr6:37530600-37532800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:37531000-37532600	Enhancers	GM12878-XiMat	blood
20	chr6:37531000-37533200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:37531600-37532600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:37531600-37532600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:37531600-37532600	Weak transcription	Right Atrium	heart
24	chr6:37531600-37532800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:37531600-37533000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
26	chr6:37531600-37533000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:37531600-37533200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:37531800-37532200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:37531800-37533200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:37531800-37533200	Enhancers	Fetal Thymus	thymus
31	chr6:37532000-37533000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:37532200-37532400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:37532400-37532600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr6:37532400-37532800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
35	chr6:37532400-37532800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:37532400-37533000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr6:37532400-37533200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:37532400-37533400	Enhancers	Fetal Brain Female	brain
39	chr6:37532400-37533800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
40	chr6:37532600-37532800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
41	chr6:37532600-37532800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
42	chr6:37532600-37533000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:37532600-37533000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
44	chr6:37532600-37533200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
45	chr6:37532600-37533400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:37532600-37533600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:37532600-37533600	Enhancers	Right Atrium	heart
48	chr6:37532600-37534200	Flanking Active TSS	GM12878-XiMat	blood
49	chr6:37532800-37533000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
50	chr6:37532800-37533000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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