Variant report

Variant	nsv966871
Chromosome Location	chr7:102395247-102397635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:102395483-102395507	Lung_OC	lung:	n/a	n/a
2	POLR2A	chr7:102396053-102396294	MCF-7	breast:	n/a	n/a
3	POLR2A	chr7:102397505-102397578	ProgFib	skin:	n/a	n/a
4	POLR2A	chr7:102395587-102395798	ProgFib	skin:	n/a	n/a
5	POLR2A	chr7:102397402-102397408	MCF-7	breast:	n/a	n/a
6	POLR2A	chr7:102395999-102396002	A549	lung:	n/a	n/a
7	POLR2A	chr7:102397506-102397539	MCF-7	breast:	n/a	n/a
8	POLR2A	chr7:102397356-102397364	MCF-7	breast:	n/a	n/a
9	POLR2A	chr7:102397459-102397495	MCF-7	breast:	n/a	n/a
10	POLR2A	chr7:102396004-102396327	A549	lung:	n/a	n/a
11	POLR2A	chr7:102397294-102397304	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102396782..102398459-chr7:102714684..102716364,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213385	TF binding region
ENSG00000170632	chromatin interactions
ENSG00000161040	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545118851	chr7:102395264-102395265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183719245	chr7:102395290-102395291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140345623	chr7:102395357-102395358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572414438	chr7:102395386-102395387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4729856	chr7:102395394-102395395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79055606	chr7:102395455-102395456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561165969	chr7:102395467-102395468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188147552	chr7:102395494-102395495	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs550653983	chr7:102395533-102395534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543591656	chr7:102395572-102395573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564861293	chr7:102395608-102395609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568908270	chr7:102395617-102395618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547119188	chr7:102395662-102395663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370676974	chr7:102395699-102395700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371946755	chr7:102395725-102395726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548476874	chr7:102395773-102395774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569881193	chr7:102395798-102395799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537277330	chr7:102395829-102395830	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372516469	chr7:102395867-102395868	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375076926	chr7:102395894-102395895	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571690785	chr7:102395902-102395903	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs28478484	chr7:102395923-102395924	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs138276669	chr7:102395926-102395927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553881646	chr7:102395966-102395967	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2537463	chr7:102395975-102395976	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2537462	chr7:102396012-102396013	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9690473	chr7:102396043-102396044	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs374906240	chr7:102396056-102396057	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554874699	chr7:102396063-102396064	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540011222	chr7:102396081-102396082	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2537461	chr7:102396119-102396120	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576304556	chr7:102396162-102396163	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543707027	chr7:102396198-102396199	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150669946	chr7:102396251-102396252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532119062	chr7:102396275-102396276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558424325	chr7:102396304-102396305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559413684	chr7:102396344-102396345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372510654	chr7:102396369-102396370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555651466	chr7:102396440-102396441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578062116	chr7:102396443-102396444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548192968	chr7:102396458-102396459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181338315	chr7:102396527-102396528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113572099	chr7:102396531-102396532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117315933	chr7:102396543-102396544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571255534	chr7:102396568-102396569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9690623	chr7:102396579-102396580	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs538776457	chr7:102396581-102396582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186296120	chr7:102396609-102396610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543021029	chr7:102396612-102396613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2537459	chr7:102396670-102396671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
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
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102390000-102396400	Weak transcription	Spleen	Spleen
2	chr7:102390000-102402000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:102390000-102404000	Weak transcription	Aorta	Aorta
4	chr7:102390000-102405000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:102390000-102405200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:102390000-102421000	Weak transcription	Lung	lung
7	chr7:102390000-102434400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:102390200-102397600	Weak transcription	Placenta	Placenta
9	chr7:102390200-102397800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:102390200-102401200	Weak transcription	Gastric	stomach
11	chr7:102390200-102419200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:102390200-102432000	Weak transcription	Left Ventricle	heart
13	chr7:102390400-102411400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:102390400-102421000	Weak transcription	Fetal Intestine Large	intestine
15	chr7:102390400-102421200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:102390600-102396200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:102390600-102396400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:102390600-102402000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:102390600-102404000	Weak transcription	Pancreas	Pancrea
20	chr7:102390600-102404200	Weak transcription	Ovary	ovary
21	chr7:102390600-102405400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:102390600-102406400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr7:102390600-102420400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr7:102390600-102421000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:102390600-102421000	Weak transcription	Thymus	Thymus
26	chr7:102390600-102421200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:102390600-102422600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr7:102390800-102396800	Weak transcription	Osteobl	bone
29	chr7:102390800-102397800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:102390800-102397800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr7:102390800-102397800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:102390800-102398200	Weak transcription	HMEC	breast
33	chr7:102390800-102398600	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:102390800-102402200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr7:102390800-102403600	Weak transcription	Fetal Heart	heart
36	chr7:102390800-102404000	Weak transcription	Fetal Lung	lung
37	chr7:102390800-102405000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:102390800-102406800	Weak transcription	Brain Anterior Caudate	brain
39	chr7:102390800-102421200	Weak transcription	Brain Germinal Matrix	brain
40	chr7:102390800-102421200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:102390800-102448800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:102391000-102398000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr7:102391000-102398000	Weak transcription	A549	lung
44	chr7:102391000-102402000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:102391000-102404000	Weak transcription	Fetal Brain Female	brain
46	chr7:102391000-102404000	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:102391000-102420000	Weak transcription	Liver	Liver
48	chr7:102391000-102420400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr7:102391000-102420400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:102391000-102421000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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