Variant report

Variant	esv3448551
Chromosome Location	chr9:140457511-140458006
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:140456633..140458761-chr9:140463562..140466881,4	K562	blood:
2	chr9:140450468..140452580-chr9:140456810..140458829,2	MCF-7	breast:
3	chr9:140448822..140451446-chr9:140457626..140459240,2	K562	blood:
4	chr9:140457953..140460745-chr9:140471921..140474546,2	K562	blood:
5	chr9:140455710..140458390-chr9:140463319..140465184,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148399	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 20 )

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	rs821321	chr9:140457533-140457534	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544971200	chr9:140457550-140457551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35488923	chr9:140457569-140457570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12352468	chr9:140457570-140457571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs821320	chr9:140457589-140457590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192279830	chr9:140457654-140457655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143148859	chr9:140457684-140457685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138651579	chr9:140457713-140457714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537640870	chr9:140457751-140457752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376867649	chr9:140457766-140457767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530220609	chr9:140457800-140457801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141688988	chr9:140457807-140457808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574251748	chr9:140457847-140457848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566962436	chr9:140457870-140457871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532435106	chr9:140457916-140457917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182253892	chr9:140457976-140457977	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376008114	chr9:140457978-140457979	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs75065678	chr9:140457982-140457983	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs78511089	chr9:140457983-140457984	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs3041762	chr9:140457998-140457999	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs398012606	chr9:140458001-140458002	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:20)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140446800-140459800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:140447000-140464200	Weak transcription	Fetal Kidney	kidney
3	chr9:140447200-140458200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr9:140447200-140458200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr9:140447200-140459400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr9:140447200-140466400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr9:140447200-140470200	Weak transcription	Stomach Mucosa	stomach
8	chr9:140447200-140471800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr9:140447400-140459800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:140447400-140466400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr9:140447400-140466800	Weak transcription	Psoas Muscle	Psoas
12	chr9:140447400-140469400	Weak transcription	Right Atrium	heart
13	chr9:140447400-140471800	Weak transcription	Small Intestine	intestine
14	chr9:140447600-140458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:140447600-140459600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:140447600-140459800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:140447600-140459800	Strong transcription	Fetal Stomach	stomach
18	chr9:140448000-140459600	Strong transcription	Fetal Brain Female	brain
19	chr9:140448400-140459600	Strong transcription	Fetal Intestine Large	intestine
20	chr9:140448800-140459800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr9:140449000-140459600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:140449200-140459600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr9:140449400-140459600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr9:140449400-140459600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:140449400-140459600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:140449400-140459600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr9:140450400-140458200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr9:140451000-140459600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:140451000-140459600	Strong transcription	Fetal Intestine Small	intestine
30	chr9:140451000-140459800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr9:140451200-140459800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:140451200-140466800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr9:140451400-140457600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr9:140451400-140458000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:140451400-140458000	Weak transcription	Brain Substantia Nigra	brain
36	chr9:140451400-140458200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr9:140451400-140458200	Weak transcription	NHDF-Ad	bronchial
38	chr9:140451400-140459800	Strong transcription	Fetal Muscle Leg	muscle
39	chr9:140451400-140465000	Weak transcription	HSMM	muscle
40	chr9:140451600-140458000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:140451600-140458000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr9:140452400-140458000	Weak transcription	Gastric	stomach
43	chr9:140452600-140459400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr9:140452600-140459600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr9:140452800-140457600	Weak transcription	Pancreas	Pancrea
46	chr9:140452800-140457800	Weak transcription	Left Ventricle	heart
47	chr9:140453000-140458000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr9:140453000-140458200	Weak transcription	Colonic Mucosa	Colon
49	chr9:140453000-140458400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr9:140453000-140471400	Weak transcription	Fetal Brain Male	brain

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