Variant report

Variant	nsv981055
Chromosome Location	chr6:38124102-38125392
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38119695..38122096-chr6:38125014..38126527,2	K562	blood:
2	chr6:37786224..37788976-chr6:38123206..38127132,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156639	chromatin interactions
ENSG00000225945	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144932944	chr6:38124188-38124189	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs558758784	chr6:38124197-38124198	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs2395693	chr6:38124219-38124220	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188183084	chr6:38124222-38124223	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs9462393	chr6:38124360-38124361	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs146726341	chr6:38124431-38124432	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs55804510	chr6:38124441-38124442	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs374201105	chr6:38124473-38124474	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs574598522	chr6:38124476-38124477	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs55665017	chr6:38124489-38124490	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs62396993	chr6:38124492-38124493	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs182238941	chr6:38124501-38124502	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs543409151	chr6:38124509-38124510	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs147876409	chr6:38124585-38124586	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs368538791	chr6:38124602-38124603	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs9470801	chr6:38124645-38124646	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546114739	chr6:38124665-38124666	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs531629161	chr6:38124666-38124667	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs61572813	chr6:38124676-38124677	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs559504419	chr6:38124689-38124690	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs141590569	chr6:38124718-38124719	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs34952988	chr6:38124729-38124730	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs9380720	chr6:38124743-38124744	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs187297991	chr6:38124797-38124798	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs549477960	chr6:38124803-38124804	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs573648360	chr6:38124807-38124808	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs538915406	chr6:38124819-38124820	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs552535211	chr6:38124896-38124897	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs565874719	chr6:38124903-38124904	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs147058910	chr6:38125032-38125033	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs151070814	chr6:38125062-38125063	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs574801998	chr6:38125117-38125118	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs537571545	chr6:38125119-38125120	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs112656175	chr6:38125150-38125151	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs34054123	chr6:38125154-38125155	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552666535	chr6:38125182-38125183	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs202142267	chr6:38125191-38125192	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs576859703	chr6:38125221-38125222	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs368503654	chr6:38125251-38125252	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs78106651	chr6:38125274-38125275	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs573202665	chr6:38125307-38125308	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs542018116	chr6:38125347-38125348	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38084600-38124200	Weak transcription	Hela-S3	cervix
2	chr6:38091400-38141800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:38103000-38127200	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:38109200-38129000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:38111800-38138200	Weak transcription	Fetal Brain Female	brain
6	chr6:38112400-38128400	Weak transcription	Brain Germinal Matrix	brain
7	chr6:38112400-38138200	Weak transcription	Fetal Brain Male	brain
8	chr6:38113000-38127800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:38113200-38134400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:38113200-38138000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr6:38114400-38138200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:38114600-38127200	Weak transcription	HSMM	muscle
13	chr6:38117200-38131800	Weak transcription	Stomach Mucosa	stomach
14	chr6:38117600-38137200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:38119400-38127800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:38119800-38129400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:38119800-38134800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:38120200-38125600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr6:38120400-38132800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:38120600-38125400	Weak transcription	Primary T cells from cord blood	blood
21	chr6:38120800-38125400	Enhancers	Fetal Thymus	thymus
22	chr6:38121000-38125800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr6:38121000-38126200	Weak transcription	GM12878-XiMat	blood
24	chr6:38121000-38126400	Weak transcription	NHEK	skin
25	chr6:38121000-38159600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr6:38121200-38128400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:38121200-38136400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:38121400-38136600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:38121400-38141000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr6:38121600-38127600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:38121600-38128400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:38121600-38131600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:38121600-38132600	Weak transcription	Osteobl	bone
34	chr6:38121600-38137800	Weak transcription	Colonic Mucosa	Colon
35	chr6:38121800-38126600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr6:38121800-38132200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:38121800-38132600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:38121800-38132800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:38121800-38138000	Weak transcription	Dnd41	blood
40	chr6:38121800-38153600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr6:38122000-38127200	Weak transcription	HSMMtube	muscle
42	chr6:38122000-38129400	Weak transcription	Liver	Liver
43	chr6:38122000-38137600	Weak transcription	Esophagus	oesophagus
44	chr6:38122200-38134200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:38122600-38124400	Enhancers	Fetal Lung	lung
46	chr6:38122800-38124600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:38122800-38131400	Weak transcription	Right Ventricle	heart
48	chr6:38122800-38135800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:38123000-38124200	Enhancers	Brain Anterior Caudate	brain
50	chr6:38123200-38124200	Enhancers	Muscle Satellite Cultured Cells	--

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