Variant report

Variant	nsv602852
Chromosome Location	chr6:33941227-33942588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33936123..33939292-chr6:33941917..33944139,3	MCF-7	breast:
2	chr6:33935012..33937286-chr6:33941317..33943972,2	K562	blood:
3	chr6:33935012..33937459-chr6:33942472..33944353,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557259602	chr6:33941262-33941263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549689924	chr6:33941267-33941268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539485315	chr6:33941291-33941292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558141457	chr6:33941297-33941298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201943897	chr6:33941342-33941343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372618656	chr6:33941412-33941413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186365013	chr6:33941460-33941461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191688580	chr6:33941514-33941515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555645845	chr6:33941572-33941573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183573389	chr6:33941583-33941584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6924243	chr6:33941600-33941601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111628929	chr6:33941641-33941642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368146256	chr6:33941670-33941671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560522216	chr6:33941680-33941681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556944763	chr6:33941688-33941689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376031134	chr6:33941698-33941699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187674320	chr6:33941831-33941832	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs368657395	chr6:33941832-33941833	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs371772299	chr6:33941843-33941844	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560099775	chr6:33941852-33941853	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs374974543	chr6:33941853-33941854	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs191071971	chr6:33941901-33941902	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs145135399	chr6:33942021-33942022	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs182158596	chr6:33942026-33942027	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs186482202	chr6:33942104-33942105	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs137932393	chr6:33942132-33942133	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs116606699	chr6:33942134-33942135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs532276105	chr6:33942171-33942172	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs564184125	chr6:33942188-33942189	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	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
31	rs192324007	chr6:33942235-33942236	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs184788374	chr6:33942309-33942310	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs562038170	chr6:33942322-33942323	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs188051729	chr6:33942382-33942383	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs529142945	chr6:33942393-33942394	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs567857725	chr6:33942413-33942414	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs193083603	chr6:33942424-33942425	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs142415472	chr6:33942448-33942449	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs578238872	chr6:33942463-33942464	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs113549375	chr6:33942502-33942503	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs553457340	chr6:33942537-33942538	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking 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:13 , 50 per page) page: 1

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

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