Variant report

Variant	nsv237228
Chromosome Location	chr3:113208706-113210471
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:113209361-113209392	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
SPICE1	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35823502	chr3:113208715-113208716	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184097909	chr3:113208751-113208752	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7650930	chr3:113208799-113208800	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577143007	chr3:113208844-113208845	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544485771	chr3:113208883-113208884	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562958120	chr3:113208886-113208887	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7631082	chr3:113208913-113208914	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs188485887	chr3:113208917-113208918	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149847034	chr3:113208926-113208927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570001319	chr3:113209077-113209078	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114103582	chr3:113209133-113209134	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7631335	chr3:113209166-113209167	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs180925425	chr3:113209209-113209210	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538951558	chr3:113209214-113209215	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550867962	chr3:113209238-113209239	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145885936	chr3:113209270-113209271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536611571	chr3:113209273-113209274	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148927493	chr3:113209291-113209292	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116746058	chr3:113209304-113209305	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114087529	chr3:113209353-113209354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116396525	chr3:113209357-113209358	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13092925	chr3:113209375-113209376	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs184256770	chr3:113209418-113209419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562794435	chr3:113209423-113209424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574902881	chr3:113209475-113209476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190419734	chr3:113209480-113209481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369496763	chr3:113209496-113209497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374249590	chr3:113209511-113209512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560699511	chr3:113209534-113209535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528223938	chr3:113209562-113209563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546344538	chr3:113209582-113209583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565099593	chr3:113209597-113209598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143629758	chr3:113209666-113209667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138307480	chr3:113209677-113209678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72946746	chr3:113209685-113209686	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs113981704	chr3:113209768-113209769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536155549	chr3:113209773-113209774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182556757	chr3:113209792-113209793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35860985	chr3:113209828-113209829	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs79097543	chr3:113209848-113209849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187167041	chr3:113209908-113209909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190738973	chr3:113209942-113209943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13098166	chr3:113210038-113210039	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs556328394	chr3:113210067-113210068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574841491	chr3:113210078-113210079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542143409	chr3:113210120-113210121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566562779	chr3:113210126-113210127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71134892	chr3:113210150-113210151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116797265	chr3:113210190-113210191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572722828	chr3:113210194-113210195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Breast cancer	17142309	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	22174824	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113160800-113224800	Weak transcription	Placenta	Placenta
2	chr3:113160800-113232600	Weak transcription	Right Ventricle	heart
3	chr3:113172800-113232800	Weak transcription	HSMMtube	muscle
4	chr3:113176400-113233200	Weak transcription	Gastric	stomach
5	chr3:113177400-113225800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:113177600-113224400	Weak transcription	Spleen	Spleen
7	chr3:113179600-113215200	Weak transcription	HMEC	breast
8	chr3:113179600-113217200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr3:113179600-113232400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:113179600-113232800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:113184000-113233200	Weak transcription	Pancreas	Pancrea
12	chr3:113187200-113224400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:113187800-113209400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:113188000-113211400	Weak transcription	Osteobl	bone
15	chr3:113188000-113215000	Weak transcription	NH-A	brain
16	chr3:113189800-113209400	Weak transcription	Primary B cells from cord blood	blood
17	chr3:113190400-113210600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr3:113191000-113215200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr3:113199600-113217000	Weak transcription	Small Intestine	intestine
20	chr3:113201400-113232600	Weak transcription	Brain Hippocampus Middle	brain
21	chr3:113201600-113209400	Weak transcription	GM12878-XiMat	blood
22	chr3:113202400-113209800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:113202400-113232800	Weak transcription	Fetal Brain Female	brain
24	chr3:113202600-113211600	Weak transcription	Brain Angular Gyrus	brain
25	chr3:113203200-113223600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr3:113203400-113229200	Weak transcription	Lung	lung
27	chr3:113203800-113213000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:113204000-113221200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:113204000-113223400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr3:113204400-113217200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:113204400-113224600	Weak transcription	Aorta	Aorta
32	chr3:113204400-113230600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr3:113204600-113209200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr3:113204600-113209600	Weak transcription	Dnd41	blood
35	chr3:113204600-113217200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr3:113204600-113223000	Weak transcription	HepG2	liver
37	chr3:113204600-113232800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:113204600-113233200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:113204600-113233200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:113204600-113233200	Weak transcription	Esophagus	oesophagus
41	chr3:113204800-113209200	Weak transcription	Primary T cells from cord blood	blood
42	chr3:113204800-113209200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:113204800-113210600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr3:113204800-113211600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr3:113204800-113215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:113204800-113217000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr3:113204800-113217000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:113204800-113221400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:113204800-113222400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:113204800-113232400	Weak transcription	Placenta Amnion	Placenta Amnion

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