Variant report

Variant	nsv602873
Chromosome Location	chr6:34315284-34318314
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34303886..34306765-chr6:34314497..34316952,3	K562	blood:
2	chr6:34314465..34317126-chr6:34317621..34320996,4	K562	blood:
3	chr6:34318109..34321086-chr6:34360029..34361626,2	MCF-7	breast:
4	chr6:34309301..34312552-chr6:34312659..34315940,4	K562	blood:
5	chr6:34314465..34317126-chr6:34317621..34320996,4	K562	blood:
6	chr6:34308267..34311502-chr6:34313780..34316538,3	K562	blood:
7	chr6:34305355..34307280-chr6:34313931..34315752,2	MCF-7	breast:
8	chr6:34305147..34308643-chr6:34314207..34316952,4	K562	blood:
9	chr6:34299992..34302647-chr6:34315891..34318733,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMGA1-6	chr6:34316007-34316342	expReg_chr6_3780_+

No data

Variant related genes	Relation type
ENSG00000272325	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs466031	chr6:34315284-34315285	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371297543	chr6:34315296-34315297	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539730291	chr6:34315408-34315409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557764040	chr6:34315468-34315469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527551802	chr6:34315474-34315475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540415412	chr6:34315517-34315518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560783411	chr6:34315554-34315555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184217338	chr6:34315566-34315567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373647607	chr6:34315569-34315570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555182464	chr6:34315606-34315607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146930062	chr6:34315627-34315628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs137857442	chr6:34315673-34315674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540260010	chr6:34315699-34315700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367780217	chr6:34315724-34315725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201382276	chr6:34315750-34315751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573779274	chr6:34315754-34315755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140070236	chr6:34315755-34315756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200370585	chr6:34315758-34315759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531747122	chr6:34315762-34315763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545317005	chr6:34315878-34315879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189672239	chr6:34315882-34315883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541308613	chr6:34315891-34315892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112753011	chr6:34315941-34315942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369395352	chr6:34315984-34315985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117207022	chr6:34315997-34315998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs80014111	chr6:34316008-34316009	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs529313934	chr6:34316029-34316030	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs550797985	chr6:34316077-34316078	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs532670818	chr6:34316091-34316092	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs546508200	chr6:34316097-34316098	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs182337038	chr6:34316111-34316112	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs539791001	chr6:34316119-34316120	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs551781173	chr6:34316149-34316150	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs567115119	chr6:34316166-34316167	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs533558877	chr6:34316172-34316173	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs555316080	chr6:34316203-34316204	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs573812716	chr6:34316230-34316231	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs187053602	chr6:34316237-34316238	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs141634083	chr6:34316282-34316283	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs7768455	chr6:34316287-34316288	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs545147965	chr6:34316311-34316312	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs138659917	chr6:34316326-34316327	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs374284633	chr6:34316361-34316362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572275519	chr6:34316381-34316382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540282497	chr6:34316390-34316391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562099135	chr6:34316407-34316408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529376061	chr6:34316410-34316411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550657334	chr6:34316414-34316415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563054641	chr6:34316422-34316423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533361173	chr6:34316426-34316427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34261800-34330800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:34285200-34330600	Weak transcription	Thymus	Thymus
3	chr6:34285800-34326600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:34289000-34325200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:34298600-34326400	Weak transcription	A549	lung
6	chr6:34301600-34318000	Weak transcription	Fetal Brain Female	brain
7	chr6:34306000-34327800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:34306000-34328800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr6:34307000-34320000	Weak transcription	Ovary	ovary
10	chr6:34308800-34330800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:34309200-34315800	Weak transcription	Placenta	Placenta
12	chr6:34309200-34318200	Weak transcription	Fetal Lung	lung
13	chr6:34309400-34317200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:34309400-34317800	Weak transcription	Brain Germinal Matrix	brain
15	chr6:34309600-34317200	Weak transcription	NHDF-Ad	bronchial
16	chr6:34309600-34319800	Weak transcription	Small Intestine	intestine
17	chr6:34309600-34329200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr6:34309800-34316800	Weak transcription	Osteobl	bone
19	chr6:34309800-34317000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:34309800-34317000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:34309800-34317200	Weak transcription	HSMM	muscle
22	chr6:34309800-34318000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:34309800-34318000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:34309800-34318000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr6:34309800-34318000	Weak transcription	Fetal Intestine Small	intestine
26	chr6:34309800-34318600	Weak transcription	HMEC	breast
27	chr6:34309800-34320000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:34309800-34320000	Weak transcription	Pancreas	Pancrea
29	chr6:34309800-34320200	Weak transcription	HepG2	liver
30	chr6:34309800-34321400	Weak transcription	Lung	lung
31	chr6:34309800-34327000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr6:34309800-34329800	Weak transcription	Fetal Thymus	thymus
33	chr6:34309800-34330800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr6:34309800-34337600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:34309800-34347200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:34310000-34317000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:34310000-34318000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr6:34310000-34320200	Weak transcription	Fetal Stomach	stomach
39	chr6:34310000-34330600	Weak transcription	Dnd41	blood
40	chr6:34310200-34318000	Weak transcription	Liver	Liver
41	chr6:34310200-34318000	Weak transcription	Fetal Muscle Leg	muscle
42	chr6:34310200-34318000	Weak transcription	NHLF	lung
43	chr6:34310200-34318200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:34310400-34318000	Weak transcription	Colon Smooth Muscle	Colon
45	chr6:34310400-34320000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:34310400-34321600	Weak transcription	Right Ventricle	heart
47	chr6:34310400-34329200	Weak transcription	Brain Angular Gyrus	brain
48	chr6:34310600-34317200	Weak transcription	Fetal Heart	heart
49	chr6:34310600-34320000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr6:34310600-34326400	Weak transcription	Rectal Smooth Muscle	rectum

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