Variant report

Variant	nsv970909
Chromosome Location	chr7:98941697-98942197
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:98939617..98942522-chr7:98988353..98990006,2	K562	blood:
2	chr7:98939839..98942137-chr7:98946322..98948026,2	K562	blood:
3	chr7:98940912..98943570-chr7:99037512..99039699,2	K562	blood:

Variant related genes	Relation type
ENSG00000130429	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541429508	chr7:98941717-98941718	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs559445719	chr7:98941749-98941750	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs181594003	chr7:98941763-98941764	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs73709643	chr7:98941810-98941811	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73709644	chr7:98941822-98941823	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs375487934	chr7:98941858-98941859	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531113906	chr7:98941862-98941863	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549930978	chr7:98941863-98941864	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201938621	chr7:98941901-98941902	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs17161687	chr7:98941909-98941910	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs547379680	chr7:98941918-98941919	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs146155916	chr7:98941938-98941939	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs140164246	chr7:98941986-98941987	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs377098965	chr7:98942028-98942029	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs369324399	chr7:98942035-98942036	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201834442	chr7:98942037-98942038	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143619408	chr7:98942061-98942062	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536180933	chr7:98942064-98942065	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370232879	chr7:98942099-98942100	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs58197546	chr7:98942150-98942151	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368213509	chr7:98942167-98942168	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Cancer	20164920	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
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98924400-98957200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:98924600-98971600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:98925200-98965200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:98927200-98966800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:98927600-98944200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:98927800-98960600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:98928400-98967200	Strong transcription	Fetal Thymus	thymus
8	chr7:98928600-98965200	Strong transcription	Dnd41	blood
9	chr7:98929000-98965600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:98929400-98965200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:98929600-98962800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr7:98929600-98965400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr7:98929800-98965000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr7:98930000-98950200	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr7:98930000-98962800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:98930000-98968200	Strong transcription	Fetal Intestine Small	intestine
17	chr7:98930200-98954600	Weak transcription	Fetal Heart	heart
18	chr7:98930200-98968400	Strong transcription	Fetal Stomach	stomach
19	chr7:98930600-98946000	Strong transcription	Osteobl	bone
20	chr7:98930600-98950400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:98930600-98965200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr7:98930600-98965200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr7:98930600-98965200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:98930800-98950000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:98930800-98955200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:98930800-98960200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:98930800-98965200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:98930800-98965200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:98930800-98965400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr7:98930800-98966800	Strong transcription	Adipose Nuclei	Adipose
31	chr7:98930800-98967000	Strong transcription	Fetal Muscle Leg	muscle
32	chr7:98930800-98967600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr7:98931000-98943200	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr7:98931000-98950400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:98931000-98953400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:98931000-98959600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:98931000-98960200	Strong transcription	Placenta	Placenta
38	chr7:98931000-98965000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:98931200-98951200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:98931400-98947400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:98932600-98966400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:98933000-98950000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:98934200-98950400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr7:98934400-98965200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr7:98935000-98943400	Strong transcription	Fetal Lung	lung
46	chr7:98935600-98971600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr7:98935800-98942800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:98937600-98946000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:98937600-98955200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:98937800-98946000	Weak transcription	Small Intestine	intestine

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