Variant report

Variant	nsv5283
Chromosome Location	chr6:44505982-44517131
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44499630..44501385-chr6:44506323..44508850,2	K562	blood:
2	chr6:44500312..44506091-chr6:44519423..44524807,5	K562	blood:
3	chr6:44504867..44507271-chr6:44510365..44512110,2	K562	blood:
4	chr6:44510267..44512106-chr6:44515045..44516562,2	K562	blood:
5	chr6:44498823..44500668-chr6:44503756..44506295,2	K562	blood:
6	chr6:44510267..44512106-chr6:44515045..44516562,2	K562	blood:
7	chr6:44504867..44507271-chr6:44510365..44512110,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AARS2-2	chr6:44513902-44514193	NONHSAT112964

No data

Extended variants
information (count: 430 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:430 , 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	rs556467887	chr6:44505992-44505993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116260386	chr6:44505993-44505994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542345622	chr6:44506001-44506002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367555019	chr6:44506002-44506003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371863883	chr6:44506045-44506046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145806992	chr6:44506125-44506126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528218335	chr6:44506131-44506132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75838488	chr6:44506140-44506141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35624019	chr6:44506221-44506222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540439320	chr6:44506233-44506234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148963462	chr6:44506251-44506252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532297045	chr6:44506280-44506281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575324390	chr6:44506307-44506308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550899553	chr6:44506338-44506339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560563124	chr6:44506351-44506352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529932587	chr6:44506483-44506484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532794698	chr6:44506544-44506545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566597845	chr6:44506561-44506562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534029124	chr6:44506594-44506595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115964627	chr6:44506666-44506667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570862837	chr6:44506674-44506675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538151902	chr6:44506697-44506698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556852506	chr6:44506702-44506703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114847438	chr6:44506717-44506718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143697102	chr6:44506729-44506730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560761224	chr6:44506731-44506732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72871226	chr6:44506732-44506733	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs183813183	chr6:44506849-44506850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7738902	chr6:44506858-44506859	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs564872930	chr6:44506912-44506913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368128377	chr6:44506966-44506967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576801381	chr6:44507014-44507015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544161485	chr6:44507033-44507034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9472297	chr6:44507043-44507044	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs72871228	chr6:44507082-44507083	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs55839388	chr6:44507083-44507084	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs542758086	chr6:44507129-44507130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188583641	chr6:44507131-44507132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527767040	chr6:44507148-44507149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181536683	chr6:44507152-44507153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550831681	chr6:44507200-44507201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570690758	chr6:44507213-44507214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570743568	chr6:44507294-44507295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12191687	chr6:44507368-44507369	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549932042	chr6:44507377-44507378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568693730	chr6:44507386-44507387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536166165	chr6:44507405-44507406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554397740	chr6:44507419-44507420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35051145	chr6:44507429-44507430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572726159	chr6:44507500-44507501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
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
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44492400-44509800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:44497200-44508000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:44503400-44508400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:44503400-44510200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:44505600-44506000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:44506000-44510200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:44506200-44506600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:44506400-44508400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr6:44506600-44507000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr6:44507000-44507400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr6:44507200-44507600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:44507400-44508200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr6:44508000-44509600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:44508400-44509000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr6:44509000-44509600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:44509000-44511200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:44509200-44510000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:44509200-44511600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:44509400-44509800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:44509400-44509800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:44509400-44510200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:44509400-44510200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:44509400-44510200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr6:44509400-44510200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:44509400-44510200	Enhancers	Ovary	ovary
26	chr6:44509400-44510400	Enhancers	Adipose Nuclei	Adipose
27	chr6:44509400-44510600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:44509400-44510600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:44509400-44511000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr6:44509400-44511000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:44509400-44511000	Enhancers	HSMMtube	muscle
32	chr6:44509400-44511400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:44509600-44509800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr6:44509600-44509800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:44509600-44509800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:44509600-44509800	Enhancers	Brain Hippocampus Middle	brain
37	chr6:44509600-44509800	Enhancers	Osteobl	bone
38	chr6:44509600-44510000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:44509600-44510000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:44509600-44510000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chr6:44509600-44510000	Enhancers	Right Atrium	heart
42	chr6:44509600-44510200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr6:44509600-44510200	Enhancers	Brain Anterior Caudate	brain
44	chr6:44509600-44510200	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr6:44509600-44510400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:44509600-44510800	Enhancers	Fetal Lung	lung
47	chr6:44509600-44511000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:44509600-44511000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr6:44509600-44511200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr6:44509800-44510000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain

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