Variant report

Variant	esv2755013
Chromosome Location	chr6:70672128-70694162
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:70680703..70682726-chr6:70685209..70687558,2	K562	blood:
2	chr6:70680703..70682726-chr6:70685209..70687558,2	K562	blood:
3	chr6:70669047..70671933-chr6:70674110..70676745,3	MCF-7	breast:
4	chr6:70683823..70685555-chr6:70687830..70690193,2	K562	blood:
5	chr6:70661572..70663140-chr6:70670607..70672802,2	MCF-7	breast:
6	chr6:70683823..70685555-chr6:70687830..70690193,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM135A-5	chr6:70683731-70684088	NONHSAT113426
2	lnc-FAM135A-5	chr6:70672718-70672762	NONHSAT113426

No data

Extended variants
information (count: 775 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:775 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6903421	chr6:70672128-70672129	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538471019	chr6:70672152-70672153	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553364542	chr6:70672192-70672193	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182441441	chr6:70672193-70672194	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576749011	chr6:70672221-70672222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187332614	chr6:70672266-70672267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190239046	chr6:70672317-70672318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6942250	chr6:70672359-70672360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138215155	chr6:70672368-70672369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541597893	chr6:70672412-70672413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143821980	chr6:70672452-70672453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530363894	chr6:70672521-70672522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73746834	chr6:70672541-70672542	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563837421	chr6:70672636-70672637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376444068	chr6:70672667-70672668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535036408	chr6:70672689-70672690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113501564	chr6:70672704-70672705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369566756	chr6:70672708-70672709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373851880	chr6:70672713-70672714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552171890	chr6:70672719-70672720	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs200542337	chr6:70672730-70672731	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs111265263	chr6:70672731-70672732	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs200189940	chr6:70672737-70672738	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs528375585	chr6:70672742-70672743	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs140811577	chr6:70672784-70672785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370994019	chr6:70672791-70672792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371520950	chr6:70672816-70672817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7742627	chr6:70672827-70672828	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531926707	chr6:70672847-70672848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143149930	chr6:70672883-70672884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7761144	chr6:70672902-70672903	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539405424	chr6:70672990-70672991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553013936	chr6:70673018-70673019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562168000	chr6:70673044-70673045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144736428	chr6:70673064-70673065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543132828	chr6:70673070-70673071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535331956	chr6:70673143-70673144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112990212	chr6:70673166-70673167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368812257	chr6:70673206-70673207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181735917	chr6:70673207-70673208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9454927	chr6:70673251-70673252	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563602559	chr6:70673270-70673271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577280715	chr6:70673313-70673314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545749775	chr6:70673330-70673331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185551563	chr6:70673358-70673359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528510207	chr6:70673368-70673369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551705046	chr6:70673373-70673374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548066464	chr6:70673390-70673391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190263873	chr6:70673468-70673469	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530592294	chr6:70673484-70673485	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70669400-70676000	Strong transcription	Primary B cells from cord blood	blood
2	chr6:70669600-70673800	Strong transcription	Primary B cells from peripheral blood	blood
3	chr6:70670800-70672200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr6:70670800-70672200	Enhancers	HSMMtube	muscle
5	chr6:70671200-70672200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:70672000-70672400	Strong transcription	GM12878-XiMat	blood
7	chr6:70672000-70675400	Weak transcription	Fetal Heart	heart
8	chr6:70672200-70673400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:70672200-70684200	Weak transcription	HSMMtube	muscle
10	chr6:70672400-70697600	Weak transcription	GM12878-XiMat	blood
11	chr6:70673400-70673600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:70673600-70679600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:70673800-70675200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr6:70675200-70676000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr6:70675400-70676000	Enhancers	Fetal Heart	heart
16	chr6:70676000-70676600	Weak transcription	Fetal Heart	heart
17	chr6:70676000-70679600	Weak transcription	Primary B cells from cord blood	blood
18	chr6:70676000-70684000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:70676600-70677400	Enhancers	Fetal Heart	heart
20	chr6:70679600-70679800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:70679600-70680000	Strong transcription	Primary B cells from cord blood	blood
22	chr6:70679600-70680000	Enhancers	Right Atrium	heart
23	chr6:70679800-70680400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:70680000-70682800	Weak transcription	Primary B cells from cord blood	blood
25	chr6:70681600-70684000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr6:70682600-70684200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr6:70682800-70683200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:70682800-70686600	Strong transcription	Primary B cells from cord blood	blood
29	chr6:70683000-70683800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr6:70683000-70684000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:70683000-70684000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:70683000-70684200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:70683000-70685400	Enhancers	Fetal Heart	heart
34	chr6:70683200-70684000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr6:70683600-70684400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr6:70683800-70684400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:70683800-70684400	Enhancers	Fetal Muscle Leg	muscle
38	chr6:70683800-70686400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr6:70684000-70684400	Enhancers	Brain Germinal Matrix	brain
40	chr6:70684000-70684600	Enhancers	Fetal Brain Female	brain
41	chr6:70684000-70686800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr6:70684200-70684400	Enhancers	HMEC	breast
43	chr6:70684200-70684600	Enhancers	HSMMtube	muscle
44	chr6:70685400-70690600	Weak transcription	Fetal Heart	heart
45	chr6:70686200-70686600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr6:70686400-70686800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:70686400-70686800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr6:70686600-70704200	Weak transcription	Primary B cells from cord blood	blood
49	chr6:70686800-70698200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr6:70690600-70691200	Enhancers	Fetal Heart	heart

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