Variant report

Variant	nsv437507
Chromosome Location	chr6:33932442-33944014
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33928944..33932796-chr6:33933214..33936694,5	K562	blood:
2	chr6:33819352..33820057-chr6:33935715..33936362,3	MCF-7	breast:
3	chr6:33916864..33919171-chr6:33930801..33933029,2	MCF-7	breast:
4	chr6:33935283..33936415-chr6:33994982..33996031,6	MCF-7	breast:
5	chr6:33934133..33938274-chr6:33943444..33948778,6	MCF-7	breast:
6	chr6:33936123..33939292-chr6:33941917..33944139,3	MCF-7	breast:
7	chr6:33935685..33937732-chr6:33955927..33958373,2	MCF-7	breast:
8	chr6:33935012..33937459-chr6:33942472..33944353,2	K562	blood:
9	chr6:33933752..33935770-chr6:33949390..33952772,4	MCF-7	breast:
10	chr6:33936123..33939292-chr6:33941917..33944139,3	MCF-7	breast:
11	chr6:33819661..33820304-chr6:33935521..33936307,2	MCF-7	breast:
12	chr6:33935782..33936335-chr6:33955656..33956622,2	MCF-7	breast:
13	chr6:33935012..33937459-chr6:33942472..33944353,2	K562	blood:
14	chr6:33935012..33937286-chr6:33941317..33943972,2	K562	blood:
15	chr6:33934133..33938274-chr6:33943444..33948778,6	MCF-7	breast:
16	chr6:33942809..33944696-chr6:33949318..33951158,2	MCF-7	breast:
17	chr6:33935558..33936417-chr6:34023156..34023663,2	K562	blood:
18	chr6:33928944..33932796-chr6:33933214..33936694,5	K562	blood:
19	chr6:33935012..33937286-chr6:33941317..33943972,2	K562	blood:

No data

Extended variants
information (count: 442 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2495972	chr6:33932442-33932443	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs528733455	chr6:33932453-33932454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546923161	chr6:33932459-33932460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567941246	chr6:33932463-33932464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189876772	chr6:33932464-33932465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556769908	chr6:33932474-33932475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74389803	chr6:33932481-33932482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182515473	chr6:33932532-33932533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138959896	chr6:33932587-33932588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573088278	chr6:33932593-33932594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73402440	chr6:33932611-33932612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562457714	chr6:33932614-33932615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574740418	chr6:33932634-33932635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114974385	chr6:33932699-33932700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187257439	chr6:33932717-33932718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530987684	chr6:33932745-33932746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545915989	chr6:33932812-33932813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7759010	chr6:33932813-33932814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528688751	chr6:33932905-33932906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375112647	chr6:33932907-33932908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368517353	chr6:33932925-33932926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568775217	chr6:33933033-33933034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372090244	chr6:33933055-33933056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550501378	chr6:33933074-33933075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192030554	chr6:33933077-33933078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539502715	chr6:33933097-33933098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149402795	chr6:33933125-33933126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199768984	chr6:33933151-33933152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200008215	chr6:33933161-33933162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138044877	chr6:33933163-33933164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370505009	chr6:33933170-33933171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201371538	chr6:33933179-33933180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566652902	chr6:33933195-33933196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534027768	chr6:33933197-33933198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs386700011	chr6:33933198-33933199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200272033	chr6:33933206-33933207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183810673	chr6:33933207-33933208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537754931	chr6:33933211-33933212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374350889	chr6:33933220-33933221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12195430	chr6:33933228-33933229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs66462358	chr6:33933229-33933230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200938159	chr6:33933232-33933233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs386700012	chr6:33933236-33933237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557295261	chr6:33933240-33933241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575565905	chr6:33933243-33933244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76934212	chr6:33933272-33933273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201802989	chr6:33933279-33933280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200370429	chr6:33933290-33933291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71000018	chr6:33933291-33933292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376671203	chr6:33933331-33933332	Weak transcription	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:93 , 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	chr6:33932200-33933600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:33933600-33934200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:33934600-33934800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:33934800-33943600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:33935400-33935800	Bivalent Enhancer	HSMMtube	muscle
7	chr6:33935600-33935800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:33935600-33936000	Enhancers	Fetal Muscle Leg	muscle
9	chr6:33935600-33936400	Bivalent Enhancer	NHDF-Ad	bronchial
10	chr6:33935800-33936200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:33935800-33936200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:33941800-33942800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:33941800-33942800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:33941800-33942800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
15	chr6:33942000-33942200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:33942000-33942400	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr6:33942000-33942600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr6:33942000-33942800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr6:33942400-33942600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:33942400-33942800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr6:33942400-33942800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:33942400-33942800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr6:33942800-33943200	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr6:33942800-33943400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:33942800-33943400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:33942800-33943600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:33942800-33944000	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr6:33943200-33943800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr6:33943200-33944200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr6:33943200-33944400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr6:33943400-33943600	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr6:33943400-33943600	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr6:33943400-33943600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:33943400-33943600	Enhancers	Primary hematopoietic stem cells	blood
35	chr6:33943400-33943600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
36	chr6:33943400-33943800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:33943400-33944000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr6:33943400-33944000	Active TSS	H9 Cell Line	embryonic stem cell
39	chr6:33943400-33944000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:33943400-33944000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr6:33943400-33944200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:33943400-33944200	Bivalent Enhancer	Fetal Brain Male	brain
43	chr6:33943400-33944200	Bivalent/Poised TSS	Fetal Brain Female	brain
44	chr6:33943400-33944400	Bivalent Enhancer	Fetal Thymus	thymus
45	chr6:33943600-33943800	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr6:33943600-33943800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:33943600-33943800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:33943600-33943800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
49	chr6:33943600-33943800	Flanking Bivalent TSS/Enh	Thymus	Thymus
50	chr6:33943600-33944000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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