Variant report

Variant	nsv885771
Chromosome Location	chr6:33626717-33660143
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:60)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:60 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:33625658..33632208-chr6:33632440..33635133,7	MCF-7	breast:
2	chr6:33625658..33632208-chr6:33632440..33635133,7	MCF-7	breast:
3	chr6:33638667..33640711-chr6:33662007..33664504,2	MCF-7	breast:
4	chr10:61869603..61870582-chr6:33654152..33655064,2	MCF-7	breast:
5	chr6:33599307..33602028-chr6:33636164..33638489,2	MCF-7	breast:
6	chr6:33587314..33592159-chr6:33656861..33661736,6	K562	blood:
7	chr6:33587884..33589809-chr6:33639279..33641252,2	MCF-7	breast:
8	chr6:33628674..33633402-chr6:33634889..33637916,6	MCF-7	breast:
9	chr6:33623872..33628631-chr6:33630927..33635524,5	K562	blood:
10	chr6:33566688..33568911-chr6:33636835..33638571,2	K562	blood:
11	chr6:33635449..33638444-chr6:33638493..33640843,3	K562	blood:
12	chr6:33536613..33539410-chr6:33637420..33640374,2	K562	blood:
13	chr6:33635650..33638003-chr6:33745189..33746765,2	K562	blood:
14	chr6:33632367..33634802-chr6:33639776..33642394,2	K562	blood:
15	chr6:33640895..33643218-chr6:33644237..33647078,2	MCF-7	breast:
16	chr6:33638337..33641498-chr6:33643269..33645828,4	K562	blood:
17	chr6:33625809..33628481-chr6:33628600..33630329,2	K562	blood:
18	chr6:33648020..33651730-chr6:33656230..33658624,3	MCF-7	breast:
19	chr6:33632139..33634646-chr6:33635663..33639290,5	K562	blood:
20	chr6:33586963..33589383-chr6:33633701..33635230,2	K562	blood:
21	chr6:33632939..33634646-chr6:33637340..33638930,2	K562	blood:
22	chr6:33659672..33661992-chr6:33673865..33675730,2	MCF-7	breast:
23	chr6:33648020..33651730-chr6:33656230..33658624,3	MCF-7	breast:
24	chr6:33598960..33600739-chr6:33624531..33626836,2	K562	blood:
25	chr6:33657954..33660672-chr6:33660957..33664215,4	MCF-7	breast:
26	chr6:33626128..33628558-chr6:33646495..33648052,2	K562	blood:
27	chr6:33625809..33628481-chr6:33628600..33630329,2	K562	blood:
28	chr6:33557115..33558665-chr6:33640289..33641376,5	K562	blood:
29	chr6:33604565..33606650-chr6:33635359..33638294,2	K562	blood:
30	chr6:33632367..33634802-chr6:33639776..33642394,2	K562	blood:
31	chr6:33587821..33589670-chr6:33648207..33649948,2	K562	blood:
32	chr6:33632939..33634646-chr6:33637340..33638930,2	K562	blood:
33	chr6:33638801..33640404-chr6:33640561..33642617,2	K562	blood:
34	chr6:33635449..33638444-chr6:33638493..33640843,3	K562	blood:
35	chr6:33553164..33555974-chr6:33639876..33642136,2	MCF-7	breast:
36	chr6:33587231..33590444-chr6:33650700..33653055,3	K562	blood:
37	chr6:33640895..33643218-chr6:33644237..33647078,2	MCF-7	breast:
38	chr6:33480361..33482958-chr6:33629089..33631311,2	K562	blood:
39	chr6:33638337..33641498-chr6:33643269..33645828,4	K562	blood:
40	chr6:33557167..33558102-chr6:33640434..33641022,2	MCF-7	breast:
41	chr6:33392300..33395210-chr6:33647730..33650382,2	MCF-7	breast:
42	chr6:33634324..33636697-chr6:33642308..33645021,2	MCF-7	breast:
43	chr6:33595746..33598066-chr6:33631456..33633008,2	K562	blood:
44	chr6:33626651..33628941-chr6:33628944..33631916,2	MCF-7	breast:
45	chr6:33632139..33634646-chr6:33635663..33639290,5	K562	blood:
46	chr6:33644740..33654543-chr6:33656969..33664772,16	MCF-7	breast:
47	chr6:33627824..33631151-chr6:33635216..33637671,3	MCF-7	breast:
48	chr6:33626651..33628941-chr6:33628944..33631916,2	MCF-7	breast:
49	chr6:33628674..33633402-chr6:33634889..33637916,6	MCF-7	breast:
50	chr6:33606855..33609657-chr6:33651468..33653388,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000030110	chromatin interactions
ENSG00000096433	chromatin interactions
ENSG00000161904	chromatin interactions
ENSG00000269490	chromatin interactions
ENSG00000137288	chromatin interactions

Extended variants
information (count: 1687 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:1687 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2296343	chr6:33626717-33626718	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186376540	chr6:33626723-33626724	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs201990563	chr6:33626751-33626752	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs373153941	chr6:33626752-33626753	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs560853496	chr6:33626769-33626770	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs142940932	chr6:33626783-33626784	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs201097102	chr6:33626795-33626796	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs375290619	chr6:33626803-33626804	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs376222480	chr6:33626820-33626821	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs571328324	chr6:33626828-33626829	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs369395929	chr6:33626875-33626876	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs142938900	chr6:33626881-33626882	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs151088791	chr6:33626882-33626883	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs200331040	chr6:33626885-33626886	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs61757118	chr6:33626896-33626897	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs373099512	chr6:33626902-33626903	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs75742993	chr6:33626905-33626906	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs554562975	chr6:33626907-33626908	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs113742628	chr6:33626912-33626913	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs374459011	chr6:33626922-33626923	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs201866396	chr6:33626933-33626934	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs559133317	chr6:33626989-33626990	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs577349463	chr6:33627008-33627009	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs541169175	chr6:33627024-33627025	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs189645908	chr6:33627033-33627034	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs2296342	chr6:33627077-33627078	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs541832786	chr6:33627095-33627096	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs529842077	chr6:33627133-33627134	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs563501812	chr6:33627190-33627191	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs376062413	chr6:33627216-33627217	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs375940111	chr6:33627221-33627222	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs147723375	chr6:33627238-33627239	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs549788742	chr6:33627254-33627255	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs139600413	chr6:33627298-33627299	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs145088908	chr6:33627314-33627315	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs147562464	chr6:33627317-33627318	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs41271249	chr6:33627367-33627368	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs376774381	chr6:33627391-33627392	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs536717256	chr6:33627406-33627407	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs182084152	chr6:33627407-33627408	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs370913520	chr6:33627433-33627434	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs548229656	chr6:33627448-33627449	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs569528046	chr6:33627504-33627505	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs558144068	chr6:33627512-33627513	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs570310192	chr6:33627521-33627522	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs9394160	chr6:33627563-33627564	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs199559733	chr6:33627568-33627569	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs2296341	chr6:33627573-33627574	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs572639709	chr6:33627599-33627600	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs577414062	chr6:33627620-33627621	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1008 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33602400-33636400	Weak transcription	HSMMtube	muscle
2	chr6:33602600-33631600	Weak transcription	Osteobl	bone
3	chr6:33603000-33628600	Weak transcription	Primary B cells from cord blood	blood
4	chr6:33603400-33640400	Weak transcription	HUVEC	blood vessel
5	chr6:33603400-33641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:33605200-33636400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:33606600-33633000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:33606800-33646600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:33608200-33640800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:33611400-33626800	Weak transcription	Right Ventricle	heart
11	chr6:33611400-33643400	Weak transcription	Left Ventricle	heart
12	chr6:33613000-33659400	Strong transcription	Fetal Intestine Small	intestine
13	chr6:33613200-33660400	Strong transcription	Thymus	Thymus
14	chr6:33613400-33635400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr6:33613600-33635000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr6:33614400-33636200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr6:33615000-33660800	Strong transcription	Fetal Intestine Large	intestine
18	chr6:33616600-33631400	Weak transcription	GM12878-XiMat	blood
19	chr6:33617200-33629200	Strong transcription	Hela-S3	cervix
20	chr6:33619000-33632800	Strong transcription	NHEK	skin
21	chr6:33619400-33629600	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr6:33619600-33628400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr6:33619600-33660800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr6:33620000-33632400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:33621000-33629200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:33621000-33659400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr6:33621200-33636200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr6:33621200-33636400	Strong transcription	Primary T cells from cord blood	blood
29	chr6:33621200-33636400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:33621400-33628000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:33621400-33635800	Strong transcription	Colonic Mucosa	Colon
32	chr6:33621400-33636400	Strong transcription	Lung	lung
33	chr6:33621400-33643400	Strong transcription	Spleen	Spleen
34	chr6:33621400-33662200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:33621400-33672600	Strong transcription	Dnd41	blood
36	chr6:33622000-33660000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:33622200-33630000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:33622400-33629200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr6:33622400-33629400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr6:33622400-33644400	Strong transcription	Gastric	stomach
41	chr6:33622600-33628000	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr6:33622800-33627400	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr6:33623000-33627200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr6:33623000-33629600	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr6:33623000-33635200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:33623200-33628800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:33623200-33634800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:33623200-33635600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:33623200-33636200	Strong transcription	HMEC	breast
50	chr6:33623200-33649000	Weak transcription	Monocytes-CD14+_RO01746	blood

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