Variant report

Variant	nsv524794
Chromosome Location	chr6:30066031-30067892
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30067592..30070049-chr6:30312859..30314391,2	K562	blood:
2	chr6:30063791..30066840-chr6:30067476..30070156,3	MCF-7	breast:
3	chr6:30039276..30042217-chr6:30067253..30069841,2	K562	blood:
4	chr6:30027986..30030809-chr6:30067690..30071011,4	K562	blood:
5	chr6:30031856..30036259-chr6:30064937..30071315,10	MCF-7	breast:
6	chr6:30039673..30045870-chr6:30065915..30071954,9	MCF-7	breast:
7	chr6:30059482..30063646-chr6:30064744..30071169,8	MCF-7	breast:
8	chr6:30027914..30030220-chr6:30065122..30067982,3	MCF-7	breast:
9	chr6:30043035..30044565-chr6:30066202..30069074,2	MCF-7	breast:
10	chr6:30067195..30070112-chr6:30098151..30100617,2	MCF-7	breast:
11	chr6:30029240..30031636-chr6:30067690..30069434,2	K562	blood:
12	chr6:30059663..30061808-chr6:30067229..30070058,2	K562	blood:
13	chr6:30063791..30066840-chr6:30067476..30070156,3	MCF-7	breast:
14	chr6:30036068..30037732-chr6:30063349..30066200,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000066379	chromatin interactions
ENSG00000241370	chromatin interactions
ENSG00000204619	chromatin interactions
ENSG00000204623	chromatin interactions
ENSG00000204618	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs916570	chr6:30066031-30066032	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150116739	chr6:30066050-30066051	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs138559848	chr6:30066058-30066059	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs916569	chr6:30066097-30066098	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs149303853	chr6:30066161-30066162	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs555549696	chr6:30066175-30066176	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs557797322	chr6:30066179-30066180	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs572976565	chr6:30066195-30066196	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs9295834	chr6:30066245-30066246	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575805625	chr6:30066360-30066361	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs188422887	chr6:30066461-30066462	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs144581850	chr6:30066515-30066516	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs138225505	chr6:30066542-30066543	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs143811839	chr6:30066579-30066580	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs113410910	chr6:30066596-30066597	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs368351986	chr6:30066613-30066614	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs144676399	chr6:30066672-30066673	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs552812478	chr6:30066682-30066683	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs150851472	chr6:30066691-30066692	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs6457148	chr6:30066713-30066714	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
21	rs6457149	chr6:30066714-30066715	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs7739676	chr6:30066750-30066751	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567111595	chr6:30066751-30066752	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs536361834	chr6:30066777-30066778	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs568683082	chr6:30066798-30066799	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs552622507	chr6:30066811-30066812	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs373757207	chr6:30066853-30066854	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs35956419	chr6:30066855-30066856	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs535511074	chr6:30066859-30066860	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs565961152	chr6:30066860-30066861	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs55683292	chr6:30066861-30066862	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs534873926	chr6:30066865-30066866	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs200908612	chr6:30066867-30066868	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs200078539	chr6:30066871-30066872	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs199534429	chr6:30066885-30066886	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs558072629	chr6:30066893-30066894	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs555952546	chr6:30066904-30066905	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs56292230	chr6:30066905-30066906	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs201068977	chr6:30066907-30066908	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs55973185	chr6:30066910-30066911	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs79406827	chr6:30066913-30066914	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs9280890	chr6:30066914-30066915	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs200752578	chr6:30066929-30066930	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs543713114	chr6:30066945-30066946	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs557337241	chr6:30066947-30066948	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs201863303	chr6:30066960-30066961	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs11968439	chr6:30066963-30066964	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs12210073	chr6:30066975-30066976	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs10807062	chr6:30066988-30066989	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs558020850	chr6:30066989-30066990	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
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
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	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
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571809	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	21509527	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	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
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30061000-30066800	Enhancers	Stomach Mucosa	stomach
2	chr6:30062000-30067000	Enhancers	Fetal Intestine Small	intestine
3	chr6:30062200-30067800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:30063400-30068400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:30063600-30068200	Weak transcription	HMEC	breast
6	chr6:30063800-30068000	Weak transcription	Lung	lung
7	chr6:30064000-30068000	Enhancers	HepG2	liver
8	chr6:30064400-30067000	Enhancers	Primary T cells from cord blood	blood
9	chr6:30064800-30066800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr6:30064800-30067200	Enhancers	K562	blood
11	chr6:30064800-30068400	Bivalent Enhancer	Fetal Intestine Large	intestine
12	chr6:30064800-30069600	Bivalent Enhancer	Fetal Thymus	thymus
13	chr6:30065000-30066600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
14	chr6:30065200-30066400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr6:30065200-30066600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr6:30065200-30066600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr6:30065400-30066200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:30065400-30066200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
19	chr6:30065400-30066200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:30065400-30066200	Enhancers	NHEK	skin
21	chr6:30065400-30068800	Weak transcription	Gastric	stomach
22	chr6:30065600-30066200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr6:30065600-30066200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr6:30065600-30066400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:30065600-30066600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
26	chr6:30065800-30066200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:30065800-30066400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
28	chr6:30065800-30066600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
29	chr6:30066000-30066200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:30066000-30066200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
31	chr6:30066000-30066200	Enhancers	Spleen	Spleen
32	chr6:30066000-30066400	Bivalent Enhancer	Colonic Mucosa	Colon
33	chr6:30066000-30066600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
34	chr6:30066200-30066400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:30066200-30068000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:30066200-30068200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:30066600-30067800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr6:30066800-30067800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr6:30067000-30068200	Bivalent Enhancer	Fetal Intestine Small	intestine
40	chr6:30067000-30068400	Bivalent Enhancer	Primary T cells from cord blood	blood
41	chr6:30067200-30067400	Bivalent Enhancer	K562	blood
42	chr6:30067200-30068000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr6:30067600-30067800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
44	chr6:30067600-30068000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
45	chr6:30067600-30068000	Bivalent Enhancer	Rectal Smooth Muscle	rectum
46	chr6:30067600-30068200	Enhancers	Duodenum Mucosa	Duodenum
47	chr6:30067600-30068400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
48	chr6:30067600-30068400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
49	chr6:30067800-30068000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
50	chr6:30067800-30068000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell

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