Variant report

Variant	esv2491896
Chromosome Location	chr3:112294002-112295506
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112294905..112297769-chr3:112358184..112360725,3	MCF-7	breast:
2	chr3:112280239..112282206-chr3:112293782..112295982,2	K562	blood:
3	chr3:112290282..112294480-chr3:112295112..112298665,4	K562	blood:
4	chr3:112290282..112294480-chr3:112295112..112298665,4	K562	blood:
5	chr3:112285735..112288489-chr3:112291503..112294225,2	K562	blood:
6	chr3:112285735..112289374-chr3:112291760..112294225,3	K562	blood:

Variant related genes	Relation type
ENSG00000091986	chromatin interactions
ENSG00000144848	chromatin interactions
ENSG00000138459	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534187491	chr3:112294042-112294043	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs373946534	chr3:112294080-112294081	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs2638039	chr3:112294120-112294121	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs28414730	chr3:112294168-112294169	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs574199843	chr3:112294177-112294178	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs185191005	chr3:112294185-112294186	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs7648413	chr3:112294251-112294252	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576108482	chr3:112294265-112294266	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs529200202	chr3:112294266-112294267	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs564898947	chr3:112294281-112294282	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs532441581	chr3:112294286-112294287	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs189950447	chr3:112294305-112294306	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs540919357	chr3:112294313-112294314	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs10541187	chr3:112294317-112294318	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs552155545	chr3:112294339-112294340	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs561229410	chr3:112294345-112294346	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs183344366	chr3:112294363-112294364	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs189256688	chr3:112294374-112294375	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs552059550	chr3:112294414-112294415	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs563399080	chr3:112294415-112294416	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs532215819	chr3:112294438-112294439	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs552213443	chr3:112294472-112294473	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs191980318	chr3:112294478-112294479	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs567004435	chr3:112294521-112294522	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs74284575	chr3:112294550-112294551	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs367872754	chr3:112294568-112294569	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs552220918	chr3:112294606-112294607	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs548468014	chr3:112294674-112294675	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs188440206	chr3:112294687-112294688	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs74457854	chr3:112294701-112294702	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs2933139	chr3:112294719-112294720	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556312092	chr3:112294808-112294809	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs549360968	chr3:112294843-112294844	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs538704748	chr3:112294863-112294864	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs147565442	chr3:112294880-112294881	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs572392622	chr3:112294898-112294899	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs192859841	chr3:112294932-112294933	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs561062538	chr3:112294936-112294937	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs538322227	chr3:112294970-112294971	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs34538509	chr3:112294980-112294981	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs13088467	chr3:112294999-112295000	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs114218201	chr3:112295001-112295002	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs563434077	chr3:112295007-112295008	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs532248534	chr3:112295026-112295027	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs552348153	chr3:112295029-112295030	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs559389697	chr3:112295039-112295040	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs528110949	chr3:112295049-112295050	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs548150086	chr3:112295069-112295070	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs567888914	chr3:112295070-112295071	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs184094228	chr3:112295087-112295088	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112281800-112299400	Weak transcription	Left Ventricle	heart
2	chr3:112281800-112301600	Weak transcription	HepG2	liver
3	chr3:112281800-112312000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:112281800-112315400	Weak transcription	Pancreas	Pancrea
5	chr3:112281800-112324200	Weak transcription	Spleen	Spleen
6	chr3:112281800-112325400	Weak transcription	Gastric	stomach
7	chr3:112282000-112312200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:112282000-112330400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:112282000-112330600	Weak transcription	Esophagus	oesophagus
10	chr3:112282200-112303400	Weak transcription	Psoas Muscle	Psoas
11	chr3:112282400-112299400	Weak transcription	Fetal Stomach	stomach
12	chr3:112282400-112301600	Weak transcription	Hela-S3	cervix
13	chr3:112282400-112304400	Weak transcription	Fetal Heart	heart
14	chr3:112282400-112306600	Weak transcription	Right Ventricle	heart
15	chr3:112282400-112307200	Weak transcription	Small Intestine	intestine
16	chr3:112282400-112312400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr3:112282400-112316800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:112282400-112322800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:112282400-112324200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:112282400-112340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:112282600-112297200	Weak transcription	Thymus	Thymus
22	chr3:112282600-112298200	Weak transcription	NHEK	skin
23	chr3:112282600-112301200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr3:112282600-112301400	Weak transcription	A549	lung
25	chr3:112282600-112306800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:112282800-112298600	Weak transcription	Brain Angular Gyrus	brain
27	chr3:112282800-112301400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr3:112282800-112302200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr3:112283000-112299200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr3:112283000-112301800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:112283000-112316400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr3:112283600-112295800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:112283800-112295400	Strong transcription	Liver	Liver
34	chr3:112284000-112297600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:112284000-112298600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr3:112284400-112294400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:112284600-112294600	Weak transcription	Fetal Intestine Small	intestine
38	chr3:112284800-112294200	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:112285200-112294400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr3:112285200-112294600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:112286200-112294200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr3:112286600-112298000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr3:112287600-112304000	Weak transcription	HMEC	breast
44	chr3:112287800-112298000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr3:112287800-112299400	Weak transcription	Aorta	Aorta
46	chr3:112287800-112299400	Weak transcription	GM12878-XiMat	blood
47	chr3:112288000-112294200	Strong transcription	Placenta	Placenta
48	chr3:112288200-112294600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:112288200-112295400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr3:112288400-112294200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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