Variant report

Variant	nsv470815
Chromosome Location	chr6:39022698-39051694
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:39046271..39047893-chr6:39050344..39052466,2	K562	blood:
2	chr6:39032106..39033612-chr6:39039523..39041550,2	K562	blood:
3	chr6:39025094..39027190-chr6:39031133..39033531,2	K562	blood:
4	chr6:39040219..39042267-chr6:39046191..39048280,2	K562	blood:
5	chr6:39047800..39050333-chr6:39052277..39054288,2	K562	blood:
6	chr6:39035659..39037472-chr6:39041322..39043034,2	K562	blood:
7	chr6:39042906..39044931-chr6:39052683..39055087,2	MCF-7	breast:
8	chr6:39032106..39033612-chr6:39039523..39041550,2	K562	blood:
9	chr6:39040219..39042267-chr6:39046191..39048280,2	K562	blood:
10	chr6:39046271..39047893-chr6:39050344..39052466,2	K562	blood:
11	chr6:39049293..39050891-chr6:39079605..39081561,2	K562	blood:
12	chr6:39035655..39037159-chr6:39041534..39043180,2	K562	blood:
13	chr6:39016886..39018824-chr6:39023068..39025617,2	MCF-7	breast:
14	chr6:39035659..39037472-chr6:39041322..39043034,2	K562	blood:
15	chr6:39014785..39017346-chr6:39021538..39023370,2	K562	blood:
16	chr6:39049391..39052267-chr6:39080061..39083528,3	K562	blood:
17	chr6:39025094..39027190-chr6:39031133..39033531,2	K562	blood:
18	chr6:39035655..39037159-chr6:39041534..39043180,2	K562	blood:
19	chr6:39016643..39019473-chr6:39022041..39023583,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112164	chromatin interactions
ENSG00000112167	chromatin interactions

Extended variants
information (count: 1394 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1394 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13202369	chr6:39022698-39022699	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575357985	chr6:39022702-39022703	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs141748357	chr6:39022749-39022750	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541396374	chr6:39022805-39022806	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs544268429	chr6:39022806-39022807	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10305425	chr6:39022813-39022814	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141109053	chr6:39022824-39022825	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530481630	chr6:39022854-39022855	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs76748002	chr6:39022871-39022872	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs35724039	chr6:39022872-39022873	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs550251783	chr6:39022881-39022882	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs10305426	chr6:39022882-39022883	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564746861	chr6:39022900-39022901	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs533340813	chr6:39022913-39022914	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547303778	chr6:39022935-39022936	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10305427	chr6:39022991-39022992	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567016752	chr6:39022992-39022993	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536836266	chr6:39022997-39022998	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535847852	chr6:39023025-39023026	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556923034	chr6:39023034-39023035	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569266934	chr6:39023043-39023044	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184188551	chr6:39023049-39023050	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs186642724	chr6:39023083-39023084	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10305428	chr6:39023094-39023095	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs113237926	chr6:39023113-39023114	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs10305429	chr6:39023141-39023142	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs553255399	chr6:39023147-39023148	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191594034	chr6:39023179-39023180	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs541433320	chr6:39023270-39023271	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs10305430	chr6:39023302-39023303	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs4714209	chr6:39023359-39023360	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs116118711	chr6:39023371-39023372	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564007487	chr6:39023399-39023400	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533586473	chr6:39023409-39023410	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150584203	chr6:39023415-39023416	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560852932	chr6:39023432-39023433	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74897780	chr6:39023438-39023439	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549697125	chr6:39023442-39023443	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569303051	chr6:39023492-39023493	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112730162	chr6:39023500-39023501	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs386700357	chr6:39023501-39023502	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551921199	chr6:39023502-39023503	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371584809	chr6:39023503-39023504	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs3799706	chr6:39023504-39023505	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571623320	chr6:39023505-39023506	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200164020	chr6:39023508-39023509	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201769110	chr6:39023510-39023511	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs3839538	chr6:39023511-39023512	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567099746	chr6:39023552-39023553	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534499076	chr6:39023562-39023563	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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	17603634	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21510904	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39017200-39030200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:39017800-39026400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:39018800-39023400	Enhancers	Pancreas	Pancrea
4	chr6:39019600-39023600	Weak transcription	Right Atrium	heart
5	chr6:39019800-39023800	Weak transcription	Right Ventricle	heart
6	chr6:39020000-39024000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:39020400-39025000	Weak transcription	Dnd41	blood
8	chr6:39020800-39023000	Enhancers	Fetal Intestine Large	intestine
9	chr6:39020800-39023800	Enhancers	Fetal Heart	heart
10	chr6:39021000-39023000	Enhancers	Duodenum Mucosa	Duodenum
11	chr6:39021000-39023000	Enhancers	Fetal Intestine Small	intestine
12	chr6:39021200-39072000	Weak transcription	Gastric	stomach
13	chr6:39021400-39022800	Enhancers	Colonic Mucosa	Colon
14	chr6:39021400-39022800	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr6:39021600-39022800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr6:39021800-39022800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr6:39021800-39022800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr6:39021800-39023000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:39022000-39022800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:39022200-39022800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:39022200-39023200	Enhancers	Left Ventricle	heart
22	chr6:39022400-39023600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:39022400-39025600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:39022400-39026000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:39022400-39028000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:39022400-39028600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:39022400-39041600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr6:39022600-39024000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:39022800-39023000	Enhancers	Fetal Lung	lung
30	chr6:39022800-39023200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:39022800-39025600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:39022800-39026800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:39023000-39025000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:39023000-39026800	Weak transcription	Fetal Intestine Small	intestine
35	chr6:39023200-39023400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr6:39023200-39023600	Weak transcription	Left Ventricle	heart
37	chr6:39023400-39025000	Weak transcription	Pancreas	Pancrea
38	chr6:39023400-39029200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr6:39023600-39023800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:39023600-39024000	Enhancers	Right Atrium	heart
41	chr6:39023600-39024200	Enhancers	Left Ventricle	heart
42	chr6:39023800-39024000	Flanking Active TSS	Fetal Heart	heart
43	chr6:39023800-39025000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:39023800-39025600	Enhancers	Right Ventricle	heart
45	chr6:39024000-39024200	Enhancers	Fetal Heart	heart
46	chr6:39024000-39024200	Strong transcription	Pancreatic Islets	Pancreatic Islet
47	chr6:39024000-39027200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:39024000-39030000	Weak transcription	Right Atrium	heart
49	chr6:39024200-39024400	Flanking Active TSS	Fetal Heart	heart
50	chr6:39024200-39028400	Weak transcription	Left Ventricle	heart

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