Variant report

Variant	nsv528424
Chromosome Location	chr6:35289446-35292204
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35288573..35291494-chr6:35419132..35420962,2	K562	blood:
2	chr6:35287361..35290011-chr6:35374509..35376732,2	K562	blood:
3	chr6:35286799..35289883-chr6:35433916..35436639,3	K562	blood:
4	chr6:35285224..35287896-chr6:35288768..35291223,2	MCF-7	breast:
5	chr6:35288465..35291006-chr6:35293846..35295520,2	K562	blood:
6	chr6:35283250..35286184-chr6:35288120..35289623,2	MCF-7	breast:
7	chr6:35289938..35291662-chr6:35465459..35467668,2	K562	blood:
8	chr6:35267234..35269262-chr6:35289191..35290827,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000023892	chromatin interactions
ENSG00000112039	chromatin interactions
ENSG00000198755	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs707969	chr6:35289446-35289447	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375404569	chr6:35289475-35289476	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs546506263	chr6:35289476-35289477	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs1045066	chr6:35289522-35289523	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs564298054	chr6:35289536-35289537	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs187559004	chr6:35289561-35289562	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs192289447	chr6:35289562-35289563	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs76995494	chr6:35289568-35289569	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs568560712	chr6:35289569-35289570	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs529446468	chr6:35289608-35289609	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs550484028	chr6:35289664-35289665	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs569060330	chr6:35289670-35289671	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs146351298	chr6:35289734-35289735	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs376689610	chr6:35289737-35289738	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs558047342	chr6:35289771-35289772	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs73411703	chr6:35289772-35289773	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73411706	chr6:35289823-35289824	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554992232	chr6:35289922-35289923	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs573394343	chr6:35289929-35289930	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs544330300	chr6:35289964-35289965	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs368569308	chr6:35289982-35289983	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs557253423	chr6:35290025-35290026	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs569430091	chr6:35290064-35290065	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs190826093	chr6:35290214-35290215	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs564781385	chr6:35290234-35290235	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs78905512	chr6:35290235-35290236	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs540619194	chr6:35290259-35290260	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs575069222	chr6:35290457-35290458	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs562097269	chr6:35290517-35290518	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs35909448	chr6:35290526-35290527	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs537654449	chr6:35290529-35290530	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs529345037	chr6:35290532-35290533	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs374949232	chr6:35290557-35290558	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs568924202	chr6:35290599-35290600	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs533160194	chr6:35290744-35290745	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs200574006	chr6:35290791-35290792	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs138593805	chr6:35290883-35290884	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs557993641	chr6:35290984-35290985	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs533874611	chr6:35290992-35290993	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs111850745	chr6:35291025-35291026	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs566953749	chr6:35291037-35291038	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs78297292	chr6:35291061-35291062	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs556241506	chr6:35291075-35291076	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs540596989	chr6:35291087-35291088	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs540029936	chr6:35291089-35291090	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs61562178	chr6:35291094-35291095	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs573558857	chr6:35291095-35291096	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs114764024	chr6:35291099-35291100	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs60435459	chr6:35291105-35291106	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs369600034	chr6:35291122-35291123	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	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
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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioblastoma multiforme	21510904	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35276000-35293800	Weak transcription	K562	blood
2	chr6:35280800-35293200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:35281600-35291600	Strong transcription	Primary B cells from peripheral blood	blood
4	chr6:35282000-35293400	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:35282000-35293600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr6:35282000-35293800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:35282200-35293600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr6:35282600-35293600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:35282800-35293600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr6:35283400-35293400	Strong transcription	Primary B cells from cord blood	blood
11	chr6:35283800-35293400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:35284000-35291600	Strong transcription	Dnd41	blood
13	chr6:35284000-35293000	Strong transcription	Primary T cells from cord blood	blood
14	chr6:35284000-35293400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:35284200-35290800	Strong transcription	GM12878-XiMat	blood
16	chr6:35284200-35293400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
17	chr6:35284400-35292800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:35284400-35293600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr6:35284800-35290600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:35285200-35290800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
21	chr6:35285200-35292800	Strong transcription	Thymus	Thymus
22	chr6:35285400-35289800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:35285400-35293400	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr6:35285600-35291400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:35285800-35293000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr6:35286000-35293600	Strong transcription	Fetal Thymus	thymus
27	chr6:35286600-35290200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:35286600-35310000	Weak transcription	Right Atrium	heart
29	chr6:35286800-35290400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr6:35286800-35290400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:35286800-35290400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr6:35286800-35290600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:35286800-35290600	Strong transcription	Placenta	Placenta
34	chr6:35286800-35292200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:35286800-35292600	Weak transcription	Colonic Mucosa	Colon
36	chr6:35286800-35293400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr6:35286800-35294800	Weak transcription	Fetal Muscle Leg	muscle
38	chr6:35286800-35295000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr6:35286800-35295000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr6:35286800-35295200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr6:35286800-35295200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr6:35286800-35299800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:35286800-35299800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:35287200-35290200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:35287200-35293200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:35287200-35293400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:35287400-35289600	Strong transcription	Fetal Stomach	stomach
48	chr6:35287400-35290400	Strong transcription	Primary hematopoietic stem cells	blood
49	chr6:35287400-35290400	Strong transcription	NHEK	skin
50	chr6:35287400-35290600	Strong transcription	Rectal Mucosa Donor 29	rectum

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