Variant report

Variant	esv3384757
Chromosome Location	chr6:28143357-28145067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:28144213-28144403	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28144649..28146793-chr6:28148487..28151313,2	K562	blood:
2	chr6:28133761..28136004-chr6:28144085..28147042,3	K562	blood:
3	chr6:27858835..27861043-chr6:28141226..28144128,2	K562	blood:
4	chr6:27863620..27866470-chr6:28144337..28146765,2	K562	blood:
5	chr6:28143030..28145517-chr6:28186267..28188999,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF192-4	chr6:28143966-28144452	NONHSAT108446

No data

Variant related genes	Relation type
ENSG00000216901	TF binding region
ENSG00000233224	chromatin interactions
ENSG00000226314	chromatin interactions
ENSG00000238610	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000176933	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574752547	chr6:28143382-28143383	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs540228725	chr6:28143385-28143386	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs77481217	chr6:28143431-28143432	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs370523188	chr6:28143466-28143467	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs147017749	chr6:28143482-28143483	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs73400525	chr6:28143562-28143563	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186098457	chr6:28143583-28143584	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs191818778	chr6:28143615-28143616	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs540207794	chr6:28143678-28143679	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs561970332	chr6:28143725-28143726	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs562017872	chr6:28143732-28143733	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs374821126	chr6:28143750-28143751	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs368915080	chr6:28143816-28143817	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs9468301	chr6:28143857-28143858	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs377534755	chr6:28143874-28143875	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs546989583	chr6:28143897-28143898	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs548580379	chr6:28143900-28143901	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs138192535	chr6:28143920-28143921	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs371154496	chr6:28143923-28143924	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs145985940	chr6:28143962-28143963	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs200660616	chr6:28143965-28143966	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs552300526	chr6:28143982-28143983	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs569002764	chr6:28144089-28144090	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs538061964	chr6:28144103-28144104	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
25	rs375688055	chr6:28144121-28144122	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
26	rs568438491	chr6:28144142-28144143	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs182558814	chr6:28144157-28144158	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs554429715	chr6:28144200-28144201	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs6904045	chr6:28144229-28144230	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs563604852	chr6:28144236-28144237	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs77060174	chr6:28144290-28144291	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs539413903	chr6:28144299-28144300	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs543645805	chr6:28144315-28144316	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs556334675	chr6:28144320-28144321	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs530941633	chr6:28144329-28144330	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs576166522	chr6:28144331-28144332	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs12191250	chr6:28144386-28144387	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs9468302	chr6:28144406-28144407	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs186086493	chr6:28144438-28144439	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs6904277	chr6:28144444-28144445	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs552339378	chr6:28144540-28144541	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs150527915	chr6:28144597-28144598	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs369115278	chr6:28144601-28144602	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs386406618	chr6:28144602-28144603	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs58218618	chr6:28144628-28144629	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs1233668	chr6:28144642-28144643	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs540997117	chr6:28144661-28144662	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs368899772	chr6:28144666-28144667	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs58909320	chr6:28144686-28144687	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs532444889	chr6:28144687-28144688	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	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
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
Bipolar disorder	19114987	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28129800-28145400	Weak transcription	Brain Angular Gyrus	brain
2	chr6:28138000-28145600	Weak transcription	K562	blood
3	chr6:28139000-28144400	Weak transcription	Brain Anterior Caudate	brain
4	chr6:28139400-28145600	Weak transcription	Brain Inferior Temporal Lobe	brain

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