Variant report

Variant	nsv888340
Chromosome Location	chr7:69879914-69959059
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:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:69926473..69928841-chr7:69935166..69939263,3	K562	blood:
2	chr7:69919039..69921545-chr7:69922833..69924700,2	K562	blood:
3	chr7:69923675..69926139-chr7:69934403..69936695,2	K562	blood:
4	chr7:69951787..69954250-chr7:69957841..69960555,2	K562	blood:
5	chr7:69923675..69926139-chr7:69934403..69936695,2	K562	blood:
6	chr7:69911189..69912929-chr7:69913285..69916011,2	MCF-7	breast:
7	chr7:69911189..69912929-chr7:69913285..69916011,2	MCF-7	breast:
8	chr7:69951787..69954250-chr7:69957841..69960555,2	K562	blood:
9	chr7:69919039..69921545-chr7:69922833..69924700,2	K562	blood:
10	chr7:69926473..69928841-chr7:69935166..69939263,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WBSCR17-5	chr7:69900738-69901163	NONHSAT121328

No data

Extended variants
information (count: 2833 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2833 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10486878	chr7:69879914-69879915	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556550209	chr7:69879917-69879918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547987925	chr7:69879938-69879939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569722609	chr7:69880035-69880036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548015819	chr7:69880095-69880096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536895320	chr7:69880137-69880138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558761293	chr7:69880143-69880144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370238714	chr7:69880173-69880174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534932360	chr7:69880174-69880175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553277490	chr7:69880193-69880194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74327862	chr7:69880253-69880254	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs542166492	chr7:69880262-69880263	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs538159177	chr7:69880281-69880282	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs139810616	chr7:69880302-69880303	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs557740291	chr7:69880309-69880310	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs577915114	chr7:69880310-69880311	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs540388261	chr7:69880333-69880334	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs546018583	chr7:69880386-69880387	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs560378639	chr7:69880457-69880458	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs573826814	chr7:69880493-69880494	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs564354333	chr7:69880545-69880546	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs528632494	chr7:69880551-69880552	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs189918973	chr7:69880573-69880574	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs369566068	chr7:69880611-69880612	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs546890322	chr7:69880615-69880616	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs534440046	chr7:69880629-69880630	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs562002184	chr7:69880661-69880662	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs143692257	chr7:69880662-69880663	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs548165369	chr7:69880663-69880664	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs569677639	chr7:69880678-69880679	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs368389871	chr7:69880721-69880722	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs369291396	chr7:69880723-69880724	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs537133894	chr7:69880734-69880735	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs373652280	chr7:69880742-69880743	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs537201591	chr7:69880743-69880744	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs182132524	chr7:69880751-69880752	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs35274585	chr7:69880758-69880759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs78907173	chr7:69880783-69880784	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs139555856	chr7:69880791-69880792	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs553314293	chr7:69880818-69880819	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs574669858	chr7:69880822-69880823	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs552195886	chr7:69880864-69880865	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs372809617	chr7:69880866-69880867	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs535529109	chr7:69880883-69880884	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs73175914	chr7:69880959-69880960	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575684619	chr7:69880968-69880969	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs185715671	chr7:69880982-69880983	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs190235302	chr7:69881010-69881011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370880396	chr7:69881070-69881071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557781873	chr7:69881175-69881176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Autism	19246517	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Dyslexia	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:659 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69871800-69908000	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:69872000-69882000	Weak transcription	Fetal Lung	lung
3	chr7:69872200-69881800	Weak transcription	Fetal Stomach	stomach
4	chr7:69872400-69880000	Weak transcription	Fetal Brain Male	brain
5	chr7:69875000-69883800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:69875600-69880000	Weak transcription	Primary B cells from cord blood	blood
7	chr7:69875600-69903600	Weak transcription	Spleen	Spleen
8	chr7:69877200-69884400	Weak transcription	Right Atrium	heart
9	chr7:69877400-69882600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:69878600-69881600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:69879600-69882200	Enhancers	Primary B cells from peripheral blood	blood
12	chr7:69879800-69880200	Enhancers	GM12878-XiMat	blood
13	chr7:69879800-69880600	Weak transcription	Fetal Brain Female	brain
14	chr7:69880000-69882200	Enhancers	Primary B cells from cord blood	blood
15	chr7:69880000-69888000	Enhancers	Fetal Brain Male	brain
16	chr7:69880200-69881000	Flanking Active TSS	GM12878-XiMat	blood
17	chr7:69880600-69881000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:69880600-69881800	Enhancers	Fetal Brain Female	brain
19	chr7:69880600-69882200	Enhancers	Fetal Thymus	thymus
20	chr7:69880800-69883800	Weak transcription	Gastric	stomach
21	chr7:69881000-69881400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:69881000-69881400	Enhancers	GM12878-XiMat	blood
23	chr7:69881000-69882200	Enhancers	Brain Germinal Matrix	brain
24	chr7:69881400-69881600	Enhancers	Brain Cingulate Gyrus	brain
25	chr7:69881400-69881600	Flanking Active TSS	GM12878-XiMat	blood
26	chr7:69881400-69882200	Enhancers	Brain Angular Gyrus	brain
27	chr7:69881400-69882400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr7:69881400-69882800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr7:69881400-69882800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:69881400-69883000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:69881400-69883400	Enhancers	Brain Anterior Caudate	brain
32	chr7:69881400-69883600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:69881400-69887400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:69881600-69882200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:69881600-69882200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr7:69881600-69882200	Enhancers	GM12878-XiMat	blood
37	chr7:69881600-69882600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:69881600-69882800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr7:69881600-69882800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:69881600-69883000	Enhancers	Brain Substantia Nigra	brain
41	chr7:69881600-69883600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:69881600-69883800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:69881800-69882000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:69881800-69882000	Flanking Active TSS	Fetal Brain Female	brain
45	chr7:69881800-69882600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr7:69881800-69882600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr7:69881800-69882600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr7:69881800-69882600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr7:69881800-69882800	Enhancers	Fetal Stomach	stomach
50	chr7:69882000-69882200	Active TSS	Fetal Brain Female	brain

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