Variant report

Variant	nsv819817
Chromosome Location	chr7:99634978-99635910
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99612911..99615256-chr7:99631449..99635300,4	MCF-7	breast:
2	chr7:99631794..99640933-chr7:99644912..99651639,12	K562	blood:
3	chr7:99634660..99636728-chr7:99636829..99638955,3	MCF-7	breast:
4	chr7:99634823..99637646-chr7:99648903..99650452,2	K562	blood:
5	chr7:99634010..99640137-chr7:99643841..99648236,8	K562	blood:
6	chr7:99633198..99635210-chr7:99638775..99640947,2	K562	blood:
7	chr7:99613150..99615882-chr7:99635213..99637801,4	MCF-7	breast:
8	chr7:99611956..99613934-chr7:99634714..99636555,2	K562	blood:
9	chr7:99635895..99638032-chr7:99640487..99642322,2	MCF-7	breast:
10	chr7:99612213..99613947-chr7:99635282..99637746,3	K562	blood:
11	chr7:99633170..99637307-chr7:99685245..99688799,3	K562	blood:
12	chr7:99617125..99619542-chr7:99633323..99635330,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166529	chromatin interactions
ENSG00000168090	chromatin interactions
ENSG00000106261	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3800954	chr7:99635055-99635056	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571578773	chr7:99635075-99635076	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs3800955	chr7:99635103-99635104	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs80091244	chr7:99635146-99635147	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs189784996	chr7:99635206-99635207	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs536799608	chr7:99635237-99635238	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs554751338	chr7:99635243-99635244	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs567470476	chr7:99635315-99635316	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs193106735	chr7:99635318-99635319	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs73395910	chr7:99635354-99635355	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs537879949	chr7:99635363-99635364	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs1141057	chr7:99635369-99635370	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs370594545	chr7:99635389-99635390	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs545315186	chr7:99635423-99635424	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs185018812	chr7:99635436-99635437	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs571927768	chr7:99635478-99635479	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs34477115	chr7:99635499-99635500	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs546374077	chr7:99635512-99635513	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs560785990	chr7:99635516-99635517	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs189095785	chr7:99635518-99635519	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs112095838	chr7:99635626-99635627	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs543560735	chr7:99635631-99635632	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs544692110	chr7:99635632-99635633	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs563075382	chr7:99635644-99635645	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs565245914	chr7:99635660-99635661	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs373709542	chr7:99635767-99635768	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs532708004	chr7:99635804-99635805	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs547768179	chr7:99635806-99635807	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs117374675	chr7:99635867-99635868	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs9641261	chr7:99635869-99635870	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs530009695	chr7:99635883-99635884	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	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
Acute lymphoblastic leukemia	21339820	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
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99614200-99639000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:99615200-99636400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:99615200-99637800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:99615400-99639600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:99616400-99636200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:99618800-99636400	Strong transcription	Dnd41	blood
7	chr7:99619000-99636000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr7:99619200-99636200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:99619200-99636200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:99619200-99636400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:99619200-99636400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:99619200-99636800	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:99619400-99635200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:99619400-99635200	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:99619400-99635600	Strong transcription	Thymus	Thymus
16	chr7:99619400-99636200	Strong transcription	Fetal Brain Female	brain
17	chr7:99619400-99636400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:99619400-99637200	Strong transcription	Brain Germinal Matrix	brain
19	chr7:99619600-99636200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr7:99619800-99636200	Strong transcription	Brain Hippocampus Middle	brain
21	chr7:99620000-99636200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:99620000-99636400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr7:99620000-99636400	Strong transcription	Stomach Smooth Muscle	stomach
24	chr7:99620200-99635000	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr7:99620600-99636400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:99621400-99636600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:99623200-99636000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:99624400-99635200	Strong transcription	Primary hematopoietic stem cells	blood
29	chr7:99624800-99635200	Strong transcription	K562	blood
30	chr7:99626600-99636400	Strong transcription	Fetal Thymus	thymus
31	chr7:99626800-99636200	Strong transcription	Primary T cells from cord blood	blood
32	chr7:99627200-99635600	Strong transcription	GM12878-XiMat	blood
33	chr7:99627400-99635000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr7:99627400-99636200	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr7:99627400-99636400	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr7:99627600-99635400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:99628000-99636000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:99628000-99636000	Strong transcription	NHEK	skin
39	chr7:99628200-99635200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:99628600-99635600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:99629200-99637800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:99629600-99638200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:99629600-99639000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr7:99631000-99635400	ZNF genes & repeats	A549	lung
45	chr7:99631400-99636200	Strong transcription	Fetal Muscle Leg	muscle
46	chr7:99631400-99636200	Strong transcription	NH-A	brain
47	chr7:99631600-99635800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr7:99631800-99636600	Strong transcription	Fetal Stomach	stomach
49	chr7:99631800-99647000	Weak transcription	Colonic Mucosa	Colon
50	chr7:99632200-99637600	Weak transcription	Aorta	Aorta

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