Variant report

Variant	esv3409136
Chromosome Location	chr3:23912173-23914721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:23914292..23917263-chr3:23918458..23921233,2	K562	blood:
2	chr3:23910955..23912484-chr3:23917775..23920072,2	MCF-7	breast:
3	chr3:23910182..23913152-chr3:23957732..23959978,2	MCF-7	breast:
4	chr3:23913990..23915626-chr3:23916378..23919022,2	K562	blood:

Variant related genes	Relation type
ENSG00000231395	chromatin interactions
ENSG00000197885	chromatin interactions
ENSG00000174748	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139951452	chr3:23912173-23912174	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs33936640	chr3:23912174-23912175	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs367814084	chr3:23912178-23912179	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs3035237	chr3:23912182-23912183	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs542889513	chr3:23912211-23912212	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs62255313	chr3:23912265-23912266	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs36136359	chr3:23912313-23912314	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs546977797	chr3:23912326-23912327	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs368698543	chr3:23912368-23912369	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs372451554	chr3:23912370-23912371	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs529539767	chr3:23912419-23912420	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs531201223	chr3:23912505-23912506	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs189228628	chr3:23912519-23912520	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs570968098	chr3:23912560-23912561	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs533351115	chr3:23912614-23912615	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs551653954	chr3:23912619-23912620	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs550569523	chr3:23912626-23912627	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs576866036	chr3:23912642-23912643	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs569260678	chr3:23912695-23912696	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs567039962	chr3:23912769-23912770	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs71057631	chr3:23912775-23912776	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs28380005	chr3:23912776-23912777	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs112229146	chr3:23912779-23912780	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs538049610	chr3:23912793-23912794	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs534254022	chr3:23912820-23912821	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs556023464	chr3:23912821-23912822	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs369045135	chr3:23912824-23912825	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs567706356	chr3:23912848-23912849	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs538205342	chr3:23912849-23912850	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs372772604	chr3:23912853-23912854	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs112412720	chr3:23912857-23912858	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs556699837	chr3:23912865-23912866	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs189102696	chr3:23912866-23912867	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs545203020	chr3:23912868-23912869	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs553716094	chr3:23912875-23912876	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs572180669	chr3:23912880-23912881	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs77808788	chr3:23912909-23912910	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs542599708	chr3:23912935-23912936	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs560839412	chr3:23912977-23912978	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs376749847	chr3:23912978-23912979	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs542966513	chr3:23912981-23912982	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs564658277	chr3:23912987-23912988	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs532111841	chr3:23913027-23913028	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs547448417	chr3:23913039-23913040	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs567000572	chr3:23913043-23913044	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs62255315	chr3:23913050-23913051	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs572697138	chr3:23913196-23913197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567914516	chr3:23913219-23913220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538266939	chr3:23913225-23913226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556565177	chr3:23913229-23913230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23901200-23914800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:23901200-23915400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:23901200-23915400	Weak transcription	HSMM	muscle
4	chr3:23901200-23942000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr3:23901400-23915200	Weak transcription	NHEK	skin
6	chr3:23901800-23928800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr3:23901800-23935600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:23903400-23929400	Weak transcription	Dnd41	blood
9	chr3:23904000-23918200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr3:23904800-23930800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr3:23906400-23922000	Weak transcription	Primary T cells from cord blood	blood
12	chr3:23906600-23931800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr3:23907000-23918400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr3:23907000-23920400	Weak transcription	Primary B cells from cord blood	blood
15	chr3:23907200-23915400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:23907400-23915400	Weak transcription	HMEC	breast
17	chr3:23907600-23917600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr3:23907600-23920000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:23907600-23922200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr3:23907600-23940200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:23908000-23914600	Weak transcription	Small Intestine	intestine
22	chr3:23908000-23915000	Weak transcription	Ovary	ovary
23	chr3:23908000-23915400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:23908000-23915400	Weak transcription	Aorta	Aorta
25	chr3:23908000-23915400	Weak transcription	NH-A	brain
26	chr3:23908000-23915600	Weak transcription	Esophagus	oesophagus
27	chr3:23908000-23916200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:23908000-23918200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:23908000-23918400	Weak transcription	Spleen	Spleen
30	chr3:23908000-23918600	Weak transcription	Stomach Mucosa	stomach
31	chr3:23908000-23918800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:23908000-23922400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr3:23908000-23923600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:23908000-23931600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr3:23908000-23935600	Weak transcription	Fetal Kidney	kidney
36	chr3:23908000-23935600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:23908000-23940200	Weak transcription	Gastric	stomach
38	chr3:23908200-23914800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr3:23908200-23915200	Weak transcription	NHLF	lung
40	chr3:23908200-23915400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:23908200-23915600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr3:23908200-23915800	Weak transcription	Brain Substantia Nigra	brain
43	chr3:23908200-23916200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr3:23908200-23919400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr3:23908200-23930400	Weak transcription	HepG2	liver
46	chr3:23908400-23915400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr3:23908400-23915800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr3:23908400-23916000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr3:23908600-23915800	Weak transcription	Brain Anterior Caudate	brain
50	chr3:23909200-23915400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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