Variant report

Variant	esv3434815
Chromosome Location	chr16:71695718-71696318
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71694547..71697173-chr16:71755401..71757599,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261513	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376025830	chr16:71695741-71695742	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs12919374	chr16:71695744-71695745	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs370600303	chr16:71695775-71695776	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374306159	chr16:71695828-71695829	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545613546	chr16:71695853-71695854	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563824666	chr16:71695880-71695881	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs75086131	chr16:71695941-71695942	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs575901884	chr16:71695972-71695973	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572369793	chr16:71695977-71695978	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs62053108	chr16:71696020-71696021	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs560959321	chr16:71696021-71696022	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs77365751	chr16:71696032-71696033	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191823858	chr16:71696051-71696052	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564636988	chr16:71696057-71696058	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112147406	chr16:71696071-71696072	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs532034774	chr16:71696117-71696118	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368449073	chr16:71696133-71696134	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536571444	chr16:71696205-71696206	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs367848148	chr16:71696240-71696241	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548166749	chr16:71696246-71696247	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571771130	chr16:71696258-71696259	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567685981	chr16:71696289-71696290	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71668000-71703000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr16:71671800-71704000	Weak transcription	Fetal Brain Male	brain
3	chr16:71672000-71741400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:71674800-71704600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:71675000-71724000	Weak transcription	Esophagus	oesophagus
6	chr16:71681200-71710800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:71681200-71716000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr16:71682800-71698000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr16:71683800-71704800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:71683800-71756600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:71684000-71697800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr16:71684000-71704000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:71685200-71741200	Weak transcription	Psoas Muscle	Psoas
14	chr16:71685400-71718800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:71685800-71726000	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr16:71686200-71705400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr16:71686800-71703000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr16:71686800-71717200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr16:71687000-71700200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr16:71687800-71725000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr16:71688600-71703400	Weak transcription	Pancreas	Pancrea
22	chr16:71688600-71704000	Weak transcription	Gastric	stomach
23	chr16:71689000-71703200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr16:71689000-71710000	Weak transcription	Thymus	Thymus
25	chr16:71690000-71696800	Weak transcription	Fetal Kidney	kidney
26	chr16:71690200-71696600	Weak transcription	Colonic Mucosa	Colon
27	chr16:71690400-71696200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr16:71690600-71696200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr16:71690600-71696200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr16:71690600-71696600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr16:71690600-71696800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr16:71690600-71696800	Weak transcription	Spleen	Spleen
33	chr16:71690600-71697200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr16:71690600-71699400	Weak transcription	Brain Substantia Nigra	brain
35	chr16:71690600-71700200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr16:71690600-71701000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr16:71690600-71702800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr16:71690600-71703200	Weak transcription	Lung	lung
39	chr16:71690600-71703400	Weak transcription	Right Ventricle	heart
40	chr16:71690600-71706400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr16:71690600-71708800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr16:71690600-71709600	Weak transcription	Small Intestine	intestine
43	chr16:71690600-71733600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr16:71690600-71741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr16:71690800-71699400	Weak transcription	Brain Hippocampus Middle	brain
46	chr16:71690800-71725600	Weak transcription	Fetal Thymus	thymus
47	chr16:71691200-71703800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr16:71692200-71696000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr16:71692400-71696400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr16:71692600-71696600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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