Variant report

Variant	nsv538928
Chromosome Location	chr7:69913860-70004248
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:17)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:69951787..69954250-chr7:69957841..69960555,2	K562	blood:
2	chr7:69926473..69928841-chr7:69935166..69939263,3	K562	blood:
3	chr7:69988462..69991199-chr7:69994385..69996785,2	MCF-7	breast:
4	chr7:69923675..69926139-chr7:69934403..69936695,2	K562	blood:
5	chr7:69919039..69921545-chr7:69922833..69924700,2	K562	blood:
6	chr7:69990964..69992504-chr7:69994517..69996335,2	MCF-7	breast:
7	chr7:69923675..69926139-chr7:69934403..69936695,2	K562	blood:
8	chr7:69911189..69912929-chr7:69913285..69916011,2	MCF-7	breast:
9	chr7:69962073..69964244-chr7:69965970..69968066,2	K562	blood:
10	chr7:69962073..69964244-chr7:69965970..69968066,2	K562	blood:
11	chr7:69951787..69954250-chr7:69957841..69960555,2	K562	blood:
12	chr7:69974438..69975056-chr9:110290515..110291142,2	MCF-7	breast:
13	chr7:69988462..69991199-chr7:69994385..69996785,2	MCF-7	breast:
14	chr7:69926473..69928841-chr7:69935166..69939263,3	K562	blood:
15	chr7:69990964..69992504-chr7:69994517..69996335,2	MCF-7	breast:
16	chr7:69919039..69921545-chr7:69922833..69924700,2	K562	blood:
17	chr7:69997760..70000305-chr7:70252452..70255075,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WBSCR17-4	chr7:69961634-69962155	NONHSAT121332
2	lnc-WBSCR17-4	chr7:69960515-69961328	NONHSAT121332

No data

Extended variants
information (count: 3318 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:3318 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577260296	chr7:69913898-69913899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544614683	chr7:69913916-69913917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560049803	chr7:69913946-69913947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527418419	chr7:69914013-69914014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542675027	chr7:69914021-69914022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73175953	chr7:69914047-69914048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185364370	chr7:69914049-69914050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531509123	chr7:69914159-69914160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6970937	chr7:69914177-69914178	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs189009763	chr7:69914192-69914193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532405663	chr7:69914225-69914226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368099624	chr7:69914312-69914313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536809170	chr7:69914340-69914341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11772085	chr7:69914358-69914359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547476338	chr7:69914405-69914406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6970184	chr7:69914410-69914411	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs558031504	chr7:69914431-69914432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138420288	chr7:69914433-69914434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34836058	chr7:69914434-69914435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536363334	chr7:69914486-69914487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140740790	chr7:69914503-69914504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569962728	chr7:69914512-69914513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537238736	chr7:69914559-69914560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558686174	chr7:69914629-69914630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577124486	chr7:69914638-69914639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573235296	chr7:69914674-69914675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553506275	chr7:69914683-69914684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181401250	chr7:69914711-69914712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78067393	chr7:69914762-69914763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575643948	chr7:69914765-69914766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376840712	chr7:69914770-69914771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531574955	chr7:69914785-69914786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543649870	chr7:69914786-69914787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186275867	chr7:69914787-69914788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565024902	chr7:69914798-69914799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532470016	chr7:69914856-69914857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547635951	chr7:69914862-69914863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73448873	chr7:69914867-69914868	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs114582039	chr7:69914903-69914904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548435252	chr7:69914944-69914945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558129916	chr7:69914957-69914958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569826130	chr7:69915038-69915039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537102327	chr7:69915085-69915086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552377975	chr7:69915134-69915135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570679306	chr7:69915136-69915137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535044852	chr7:69915172-69915173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553611340	chr7:69915201-69915202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572435653	chr7:69915219-69915220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573651927	chr7:69915264-69915265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190872177	chr7:69915284-69915285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Autism	19246517	CNVD
Williams Syndrome	20824207	CNVD
Dyslexia	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:750 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69896800-69914200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:69898200-69918400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr7:69899000-69930200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:69899800-69918000	Weak transcription	Fetal Stomach	stomach
5	chr7:69900600-69922800	Weak transcription	Ovary	ovary
6	chr7:69901000-69918000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:69904000-69922200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:69906400-69914200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:69911800-69922200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:69912400-69924800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:69913200-69915400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:69913400-69914600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:69913400-69914600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:69913400-69914600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:69913400-69915400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:69913400-69920200	Weak transcription	Primary B cells from cord blood	blood
17	chr7:69913600-69914000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:69913600-69914400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:69913600-69914600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr7:69913800-69915400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr7:69914000-69914600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:69914000-69921400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:69914200-69914400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:69914200-69914600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:69914200-69914600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:69914600-69922600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:69915400-69915600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
28	chr7:69916800-69917000	Enhancers	Primary B cells from peripheral blood	blood
29	chr7:69917000-69919800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr7:69918000-69918200	ZNF genes & repeats	Fetal Stomach	stomach
31	chr7:69918000-69919000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr7:69918200-69918600	Weak transcription	Fetal Stomach	stomach
33	chr7:69918400-69918600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
34	chr7:69918400-69918800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:69918600-69918800	ZNF genes & repeats	Fetal Stomach	stomach
36	chr7:69918600-69921600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:69918800-69919000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:69918800-69922200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:69918800-69922400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:69918800-69922400	Weak transcription	Fetal Stomach	stomach
41	chr7:69919000-69922600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:69919000-69923000	Weak transcription	Brain Germinal Matrix	brain
43	chr7:69919800-69920200	Enhancers	Fetal Thymus	thymus
44	chr7:69919800-69924000	Enhancers	Primary B cells from peripheral blood	blood
45	chr7:69920200-69920600	Weak transcription	Fetal Thymus	thymus
46	chr7:69920200-69923600	Enhancers	Primary B cells from cord blood	blood
47	chr7:69920200-69924600	Enhancers	Primary T cells from cord blood	blood
48	chr7:69920400-69922000	Enhancers	Primary hematopoietic stem cells	blood
49	chr7:69920400-69922000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:69920400-69922600	Enhancers	GM12878-XiMat	blood

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