Variant report

Variant	nsv967053
Chromosome Location	chr3:121566564-121567922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:121552701..121555986-chr3:121566308..121570556,4	MCF-7	breast:
2	chr3:121566038..121567568-chr3:121569275..121571033,2	K562	blood:
3	chr3:121559897..121561834-chr3:121567497..121569683,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145088	chromatin interactions
ENSG00000173226	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561025010	chr3:121566600-121566601	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs529721610	chr3:121566716-121566717	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs13065245	chr3:121566729-121566730	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs560623502	chr3:121566782-121566783	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs2877539	chr3:121566844-121566845	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552895331	chr3:121566853-121566854	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs569496898	chr3:121566858-121566859	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs9856641	chr3:121566859-121566860	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs112286906	chr3:121566884-121566885	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs548328255	chr3:121566931-121566932	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs568455827	chr3:121566987-121566988	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs534000170	chr3:121567037-121567038	Weak transcription Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs138115613	chr3:121567076-121567077	Weak transcription Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs572658880	chr3:121567121-121567122	Weak transcription Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs184924150	chr3:121567199-121567200	Weak transcription Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs189369254	chr3:121567200-121567201	Weak transcription Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575487460	chr3:121567210-121567211	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs143688023	chr3:121567227-121567228	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs146125220	chr3:121567230-121567231	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs574379220	chr3:121567248-121567249	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs540291154	chr3:121567286-121567287	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs181070423	chr3:121567333-121567334	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs532750306	chr3:121567348-121567349	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs546447828	chr3:121567370-121567371	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs554415176	chr3:121567404-121567405	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs34911559	chr3:121567431-121567432	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs531875411	chr3:121567434-121567435	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs397730340	chr3:121567440-121567441	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs548883689	chr3:121567460-121567461	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs568315537	chr3:121567510-121567511	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs530344039	chr3:121567537-121567538	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs527687070	chr3:121567575-121567576	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs184882237	chr3:121567582-121567583	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs543166206	chr3:121567593-121567594	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs13093978	chr3:121567654-121567655	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs4296627	chr3:121567684-121567685	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs189508169	chr3:121567694-121567695	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs558436477	chr3:121567720-121567721	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs35162657	chr3:121567726-121567727	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs577255738	chr3:121567727-121567728	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs181442324	chr3:121567728-121567729	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs34359537	chr3:121567732-121567733	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs201677543	chr3:121567733-121567734	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs200142326	chr3:121567734-121567735	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs199867588	chr3:121567738-121567739	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs554859007	chr3:121567759-121567760	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs186176702	chr3:121567770-121567771	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs4610269	chr3:121567778-121567779	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs74638448	chr3:121567789-121567790	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs577046598	chr3:121567809-121567810	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121554600-121566800	Weak transcription	Spleen	Spleen
2	chr3:121554800-121570600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:121554800-121576600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:121554800-121581800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:121554800-121583400	Weak transcription	Psoas Muscle	Psoas
6	chr3:121554800-121604000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:121555000-121571000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:121555000-121585600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:121555000-121592600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:121555000-121593400	Weak transcription	Liver	Liver
11	chr3:121555200-121592000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:121555600-121568200	Weak transcription	Fetal Thymus	thymus
13	chr3:121555600-121569600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:121555600-121582000	Weak transcription	Thymus	Thymus
15	chr3:121555600-121586200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:121555600-121593800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:121555800-121615600	Weak transcription	Primary T cells from cord blood	blood
18	chr3:121556600-121581600	Weak transcription	Fetal Intestine Small	intestine
19	chr3:121556600-121591400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr3:121559200-121613200	Weak transcription	Brain Angular Gyrus	brain
21	chr3:121561200-121581800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:121563200-121566800	Strong transcription	GM12878-XiMat	blood
23	chr3:121563200-121568600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr3:121563400-121566800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr3:121563400-121576800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr3:121563400-121577600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:121563600-121567000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:121564200-121567000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:121565000-121570600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:121565000-121582200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:121565400-121568600	Strong transcription	Primary B cells from cord blood	blood
32	chr3:121565800-121581400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr3:121566200-121566600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr3:121566400-121569400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr3:121566600-121566800	Strong transcription	Primary hematopoietic stem cells	blood
36	chr3:121566600-121567000	Enhancers	Duodenum Mucosa	Duodenum
37	chr3:121566800-121567000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
38	chr3:121566800-121569200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr3:121566800-121571200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr3:121567000-121567200	Active TSS	GM12878-XiMat	blood
41	chr3:121567000-121567800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:121567000-121574600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr3:121567200-121569800	Weak transcription	GM12878-XiMat	blood
44	chr3:121567800-121578000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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