Variant report

Variant	nsv349398
Chromosome Location	chr6:24735195-24736679
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:24735312..24737192-chr6:24737819..24739636,2	K562	blood:
2	chr6:24719434..24722977-chr6:24734415..24737253,4	MCF-7	breast:
3	chr6:24719100..24724705-chr6:24735495..24739885,7	K562	blood:
4	chr6:24735694..24737854-chr6:24742539..24745038,3	K562	blood:
5	chr6:24736323..24738975-chr6:24757709..24759492,2	K562	blood:
6	chr6:24724660..24726985-chr6:24733254..24735455,2	K562	blood:

Variant related genes	Relation type
ENSG00000112308	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59273632	chr6:24735198-24735199	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs200272081	chr6:24735199-24735200	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs386406529	chr6:24735203-24735204	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537959142	chr6:24735221-24735222	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146499136	chr6:24735229-24735230	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs574713457	chr6:24735241-24735242	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534091103	chr6:24735248-24735249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554478770	chr6:24735291-24735292	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10946724	chr6:24735308-24735309	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
10	rs545029949	chr6:24735412-24735413	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs76126470	chr6:24735436-24735437	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575266513	chr6:24735439-24735440	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374984763	chr6:24735508-24735509	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112593896	chr6:24735546-24735547	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs189373919	chr6:24735591-24735592	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs544499949	chr6:24735645-24735646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs72832608	chr6:24735665-24735666	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs577799264	chr6:24735684-24735685	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs193198179	chr6:24735721-24735722	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs539365299	chr6:24735730-24735731	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560332575	chr6:24735763-24735764	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs185124272	chr6:24735786-24735787	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs552407707	chr6:24735801-24735802	Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368519393	chr6:24735853-24735854	Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370710843	chr6:24735864-24735865	Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs548291110	chr6:24735919-24735920	Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs78608150	chr6:24735984-24735985	Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs375087012	chr6:24735985-24735986	Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534171290	chr6:24736012-24736013	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs554063116	chr6:24736062-24736063	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577327831	chr6:24736067-24736068	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs189591066	chr6:24736075-24736076	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs74709299	chr6:24736085-24736086	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs115891850	chr6:24736105-24736106	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149058847	chr6:24736184-24736185	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs560991601	chr6:24736223-24736224	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs9358795	chr6:24736232-24736233	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs181847742	chr6:24736248-24736249	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs560096341	chr6:24736266-24736267	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs143095553	chr6:24736328-24736329	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs552210003	chr6:24736353-24736354	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs562407071	chr6:24736390-24736391	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs550803313	chr6:24736484-24736485	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs80346374	chr6:24736514-24736515	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs548176040	chr6:24736521-24736522	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184791861	chr6:24736546-24736547	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs534044389	chr6:24736576-24736577	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs7742872	chr6:24736627-24736628	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148190144	chr6:24736632-24736633	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10806992	chr6:24736644-24736645	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	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
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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24735800-24736000	Bivalent/Poised TSS	NHLF	lung
2	chr6:24735800-24736600	Enhancers	Fetal Intestine Small	intestine
3	chr6:24735800-24736600	Enhancers	HepG2	liver
4	chr6:24735800-24737000	Enhancers	Fetal Intestine Large	intestine
5	chr6:24736000-24736200	Enhancers	Stomach Mucosa	stomach
6	chr6:24736200-24736800	Weak transcription	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links