Variant report

Variant	nsv967508
Chromosome Location	chr7:116769813-116772201
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:7)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:116769743..116772310-chr7:116777915..116779667,2	MCF-7	breast:
2	chr7:116596278..116599178-chr7:116769841..116772254,2	K562	blood:
3	chr7:116766263..116769254-chr7:116771656..116774222,2	K562	blood:
4	chr7:116755208..116758629-chr7:116767388..116769858,3	K562	blood:
5	chr7:116768426..116770966-chr7:116780853..116782813,2	K562	blood:
6	chr7:116768585..116771168-chr7:116773289..116776749,4	K562	blood:
7	chr7:116766902..116769350-chr7:116769710..116771683,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WNT2-1	chr7:116770582-116770741	ENSG00000226367.1
2	lnc-CAPZA2-2	chr7:116770545-116770559	NONHSAT122920
3	lnc-CAPZA2-2	chr7:116769847-116769901	NONHSAT122920
4	lnc-WNT2-1	chr7:116770582-116770741	NR_002331

No data

Variant related genes	Relation type
ENSG00000214188	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116961120	chr7:116769814-116769815	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373145918	chr7:116769815-116769816	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201299981	chr7:116769816-116769817	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377291566	chr7:116769817-116769818	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375400694	chr7:116769819-116769820	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528877219	chr7:116769862-116769863	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs547128860	chr7:116769887-116769888	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs150914345	chr7:116769922-116769923	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534149265	chr7:116769948-116769949	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139001773	chr7:116769965-116769966	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs570827995	chr7:116769986-116769987	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375701344	chr7:116769991-116769992	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538492268	chr7:116770011-116770012	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs113707269	chr7:116770016-116770017	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556288725	chr7:116770017-116770018	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111904204	chr7:116770020-116770021	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs181294276	chr7:116770066-116770067	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185553288	chr7:116770091-116770092	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189920833	chr7:116770110-116770111	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs572544438	chr7:116770113-116770114	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546036201	chr7:116770139-116770140	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182176081	chr7:116770144-116770145	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs185241829	chr7:116770185-116770186	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs142376247	chr7:116770202-116770203	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560512481	chr7:116770290-116770291	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs561823955	chr7:116770297-116770298	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs7809908	chr7:116770405-116770406	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546964262	chr7:116770410-116770411	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532943364	chr7:116770430-116770431	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559046390	chr7:116770454-116770455	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532832452	chr7:116770463-116770464	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145955324	chr7:116770467-116770468	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs139870477	chr7:116770468-116770469	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369336459	chr7:116770499-116770500	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373914871	chr7:116770525-116770526	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs377516151	chr7:116770542-116770543	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs200268110	chr7:116770548-116770549	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs370453542	chr7:116770572-116770573	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs550492993	chr7:116770584-116770585	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs77060569	chr7:116770635-116770636	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs149128799	chr7:116770646-116770647	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs144973249	chr7:116770650-116770651	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs201219065	chr7:116770651-116770652	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs554173032	chr7:116770677-116770678	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs376961317	chr7:116770681-116770682	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs374812510	chr7:116770684-116770685	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs377736422	chr7:116770697-116770698	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs3808218	chr7:116770715-116770716	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs539893448	chr7:116770755-116770756	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558278777	chr7:116770759-116770760	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Squamous cell cancer	20885788	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Glioblastoma multiforme	21922591	CNVD
Sudden cardiac death	19188705	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	21569311	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116738400-116774200	Weak transcription	Ovary	ovary
2	chr7:116738400-116779600	Weak transcription	Esophagus	oesophagus
3	chr7:116751400-116778600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:116754200-116797400	Weak transcription	Fetal Stomach	stomach
5	chr7:116755200-116772000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:116759200-116778200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:116759600-116774200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:116761200-116771200	Weak transcription	Fetal Brain Female	brain
9	chr7:116763800-116771600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:116763800-116772400	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:116764000-116774400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:116765000-116771600	Weak transcription	Placenta	Placenta
13	chr7:116765000-116771800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:116765000-116772200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:116765000-116773800	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:116765000-116774400	Weak transcription	Brain Angular Gyrus	brain
17	chr7:116765000-116778000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:116765000-116782000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:116765000-116783000	Weak transcription	Fetal Intestine Small	intestine
20	chr7:116765000-116790200	Weak transcription	Psoas Muscle	Psoas
21	chr7:116765000-116792400	Weak transcription	Fetal Kidney	kidney
22	chr7:116765000-116797200	Weak transcription	Pancreas	Pancrea
23	chr7:116765200-116771600	Weak transcription	NHEK	skin
24	chr7:116765200-116773000	Weak transcription	Liver	Liver
25	chr7:116765200-116773800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr7:116765200-116773800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:116765200-116774200	Weak transcription	Left Ventricle	heart
28	chr7:116765200-116778400	Weak transcription	Aorta	Aorta
29	chr7:116765400-116770000	Enhancers	NHLF	lung
30	chr7:116765400-116770400	Weak transcription	K562	blood
31	chr7:116765400-116771400	Weak transcription	HMEC	breast
32	chr7:116765400-116771400	Weak transcription	HSMMtube	muscle
33	chr7:116765400-116771600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:116765400-116772400	Weak transcription	Fetal Intestine Large	intestine
35	chr7:116765400-116776000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:116765400-116779400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:116765400-116784200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr7:116765400-116791800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:116765400-116798000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:116765600-116771000	Weak transcription	HSMM	muscle
41	chr7:116765600-116771400	Weak transcription	HUVEC	blood vessel
42	chr7:116765600-116771600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:116765600-116775800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:116765600-116783000	Weak transcription	HepG2	liver
45	chr7:116766200-116771400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:116766800-116771400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr7:116766800-116772800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:116767000-116771600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:116767000-116771600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:116767000-116774200	Weak transcription	Brain Inferior Temporal Lobe	brain

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