Variant report

Variant	nsv602851
Chromosome Location	chr6:33940897-33944014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33942809..33944696-chr6:33949318..33951158,2	MCF-7	breast:
2	chr6:33935012..33937459-chr6:33942472..33944353,2	K562	blood:
3	chr6:33935012..33937286-chr6:33941317..33943972,2	K562	blood:
4	chr6:33934133..33938274-chr6:33943444..33948778,6	MCF-7	breast:
5	chr6:33936123..33939292-chr6:33941917..33944139,3	MCF-7	breast:

Extended variants
information (count: 120 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34869302	chr6:33940919-33940920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573373086	chr6:33940922-33940923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185496435	chr6:33940929-33940930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555929382	chr6:33940950-33940951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191146038	chr6:33940977-33940978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9469659	chr6:33941055-33941056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs544937759	chr6:33941061-33941062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181126396	chr6:33941065-33941066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62399339	chr6:33941080-33941081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535808255	chr6:33941081-33941082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200687718	chr6:33941083-33941084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545124625	chr6:33941110-33941111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560030881	chr6:33941122-33941123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527389983	chr6:33941141-33941142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143798531	chr6:33941188-33941189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567476667	chr6:33941202-33941203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148175369	chr6:33941224-33941225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557259602	chr6:33941262-33941263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549689924	chr6:33941267-33941268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539485315	chr6:33941291-33941292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558141457	chr6:33941297-33941298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201943897	chr6:33941342-33941343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372618656	chr6:33941412-33941413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186365013	chr6:33941460-33941461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191688580	chr6:33941514-33941515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555645845	chr6:33941572-33941573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183573389	chr6:33941583-33941584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6924243	chr6:33941600-33941601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111628929	chr6:33941641-33941642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368146256	chr6:33941670-33941671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560522216	chr6:33941680-33941681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556944763	chr6:33941688-33941689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376031134	chr6:33941698-33941699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187674320	chr6:33941831-33941832	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs368657395	chr6:33941832-33941833	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs371772299	chr6:33941843-33941844	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs560099775	chr6:33941852-33941853	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs374974543	chr6:33941853-33941854	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs191071971	chr6:33941901-33941902	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs145135399	chr6:33942021-33942022	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs182158596	chr6:33942026-33942027	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs186482202	chr6:33942104-33942105	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs137932393	chr6:33942132-33942133	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs116606699	chr6:33942134-33942135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs532276105	chr6:33942171-33942172	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs564184125	chr6:33942188-33942189	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs6907273	chr6:33942228-33942229	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs192324007	chr6:33942235-33942236	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs184788374	chr6:33942309-33942310	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs562038170	chr6:33942322-33942323	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Esophageal adenocarcinoma	18820669	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
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	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
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33927000-33942400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:33934800-33943600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:33941800-33942800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:33941800-33942800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:33941800-33942800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
6	chr6:33942000-33942200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:33942000-33942400	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr6:33942000-33942600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr6:33942000-33942800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr6:33942400-33942600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:33942400-33942800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr6:33942400-33942800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:33942400-33942800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr6:33942800-33943200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr6:33942800-33943400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:33942800-33943400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:33942800-33943600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:33942800-33944000	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr6:33943200-33943800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr6:33943200-33944200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:33943200-33944400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr6:33943400-33943600	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr6:33943400-33943600	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr6:33943400-33943600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:33943400-33943600	Enhancers	Primary hematopoietic stem cells	blood
26	chr6:33943400-33943600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
27	chr6:33943400-33943800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:33943400-33944000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr6:33943400-33944000	Active TSS	H9 Cell Line	embryonic stem cell
30	chr6:33943400-33944000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:33943400-33944000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr6:33943400-33944200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:33943400-33944200	Bivalent Enhancer	Fetal Brain Male	brain
34	chr6:33943400-33944200	Bivalent/Poised TSS	Fetal Brain Female	brain
35	chr6:33943400-33944400	Bivalent Enhancer	Fetal Thymus	thymus
36	chr6:33943600-33943800	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr6:33943600-33943800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:33943600-33943800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:33943600-33943800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
40	chr6:33943600-33943800	Flanking Bivalent TSS/Enh	Thymus	Thymus
41	chr6:33943600-33944000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr6:33943600-33944000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr6:33943600-33944000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:33943600-33944000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
45	chr6:33943600-33944000	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr6:33943600-33944000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
47	chr6:33943600-33944000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr6:33943600-33944000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr6:33943600-33944200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr6:33943600-33944200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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