Variant report

Variant	nsv965715
Chromosome Location	chr6:34991241-34991989
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:34990918-34991247	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr6:34991400-34991550	HEEpiC	esophagus:	n/a	n/a
3	STAT3	chr6:34991769-34991969	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34984374..34990603-chr6:34991816..34996687,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UHRF1BP1-2	chr6:34991299-34991608	NONHSAT112157

Variant related genes	Relation type
HSPE1P11	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564136777	chr6:34991276-34991277	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528261359	chr6:34991302-34991303	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs116330803	chr6:34991337-34991338	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs193293858	chr6:34991356-34991357	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs536732702	chr6:34991372-34991373	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs548646349	chr6:34991411-34991412	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs373871219	chr6:34991477-34991478	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs577253819	chr6:34991478-34991479	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs75279491	chr6:34991488-34991489	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs559172309	chr6:34991489-34991490	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs549287709	chr6:34991496-34991497	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs184905873	chr6:34991590-34991591	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs77797133	chr6:34991598-34991599	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs553137667	chr6:34991610-34991611	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574234495	chr6:34991632-34991633	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541521199	chr6:34991677-34991678	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116056669	chr6:34991713-34991714	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188399030	chr6:34991719-34991720	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180811697	chr6:34991725-34991726	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564432207	chr6:34991750-34991751	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528358698	chr6:34991805-34991806	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs546856486	chr6:34991880-34991881	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs550213042	chr6:34991885-34991886	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs184239560	chr6:34991895-34991896	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs541690435	chr6:34991901-34991902	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs17608770	chr6:34991953-34991954	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs189742122	chr6:34991959-34991960	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs571051104	chr6:34991970-34991971	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Glioblastoma multiforme	21510904	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34926800-34992200	Weak transcription	Small Intestine	intestine
2	chr6:34939400-35016000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:34963600-35006600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:34979800-35002000	Weak transcription	GM12878-XiMat	blood
5	chr6:34982800-34991800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:34982800-34992200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:34983000-34991800	Weak transcription	HMEC	breast
8	chr6:34983600-34992000	Weak transcription	A549	lung
9	chr6:34983800-34992200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr6:34985000-34991400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr6:34986000-34992200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:34986200-34991800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:34986200-34991800	Weak transcription	NHDF-Ad	bronchial
14	chr6:34986200-34991800	Weak transcription	NHLF	lung
15	chr6:34986200-34992000	Weak transcription	NHEK	skin
16	chr6:34986200-34992200	Weak transcription	Osteobl	bone
17	chr6:34986200-34996400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr6:34986200-35015000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:34986400-35011800	Weak transcription	Dnd41	blood
20	chr6:34986600-34991600	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr6:34986600-34992400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:34986600-34993000	Weak transcription	Esophagus	oesophagus
23	chr6:34986800-35014800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:34987000-35009000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr6:34987000-35015800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:34987200-34991800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:34987200-34992000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:34987200-34993200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:34987400-34991800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:34987400-34991800	Weak transcription	HSMM	muscle
31	chr6:34987400-34992400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:34987400-34998600	Weak transcription	Primary B cells from cord blood	blood
33	chr6:34987400-34999200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr6:34987400-34999600	Weak transcription	Fetal Kidney	kidney
35	chr6:34987400-35015800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr6:34987600-34992200	Weak transcription	Fetal Brain Female	brain
37	chr6:34987800-34992000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr6:34987800-34993200	Enhancers	Psoas Muscle	Psoas
39	chr6:34988000-34992000	Weak transcription	Brain Germinal Matrix	brain
40	chr6:34988000-34992600	Genic enhancers	Fetal Muscle Leg	muscle
41	chr6:34988200-34993600	Enhancers	Brain Angular Gyrus	brain
42	chr6:34988200-34994200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr6:34988400-34991400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:34988400-34992400	Weak transcription	HepG2	liver
45	chr6:34988400-34993200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr6:34988400-34995000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr6:34988400-34995600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr6:34988600-34992400	Weak transcription	Spleen	Spleen
49	chr6:34988600-34993200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr6:34988600-34999200	Enhancers	Brain Anterior Caudate	brain

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