Variant report

Variant	esv3399871
Chromosome Location	chr3:121465162-121467310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:121463605..121466506-chr3:121466686..121468331,2	MCF-7	breast:
2	chr15:90776770..90777664-chr3:121467083..121467876,2	Hela-S3	cervix:
3	chr3:121465631..121470383-chr3:122100201..122104501,4	MCF-7	breast:
4	chr3:121465792..121467849-chr3:121506947..121509810,2	MCF-7	breast:
5	chr3:121466624..121468797-chr3:121553319..121555550,2	MCF-7	breast:
6	chr3:121465799..121468529-chr3:121552939..121555166,2	MCF-7	breast:
7	chr3:121462008..121465920-chr3:121468429..121472755,5	MCF-7	breast:
8	chr3:121451393..121453533-chr3:121465182..121467129,2	K562	blood:
9	chr3:121264143..121265643-chr3:121465613..121467128,2	MCF-7	breast:
10	chr3:121442817..121449533-chr3:121463247..121470201,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173230	chromatin interactions
ENSG00000183208	chromatin interactions
ENSG00000173226	chromatin interactions
ENSG00000185043	chromatin interactions
ENSG00000114023	chromatin interactions
ENSG00000160124	chromatin interactions
ENSG00000051341	chromatin interactions
ENSG00000145088	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553735912	chr3:121465190-121465191	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530951253	chr3:121465191-121465192	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs9849087	chr3:121465220-121465221	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs545388923	chr3:121465224-121465225	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558743580	chr3:121465238-121465239	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575709334	chr3:121465296-121465297	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140550284	chr3:121465301-121465302	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs201180091	chr3:121465315-121465316	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs398062752	chr3:121465325-121465326	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570850859	chr3:121465418-121465419	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs552511485	chr3:121465480-121465481	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563123561	chr3:121465547-121465548	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs13062428	chr3:121465646-121465647	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs16832541	chr3:121465668-121465669	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs559644890	chr3:121465822-121465823	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs187596947	chr3:121465856-121465857	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs528025512	chr3:121465941-121465942	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs116719485	chr3:121465985-121465986	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs548032779	chr3:121465998-121465999	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs564792737	chr3:121465999-121466000	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs34971348	chr3:121466078-121466079	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs35969345	chr3:121466083-121466084	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs35702847	chr3:121466088-121466089	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs9854234	chr3:121466118-121466119	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs199651103	chr3:121466133-121466134	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs146856967	chr3:121466150-121466151	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs567057330	chr3:121466151-121466152	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs373998819	chr3:121466155-121466156	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs112126833	chr3:121466168-121466169	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs567843795	chr3:121466170-121466171	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs183051583	chr3:121466173-121466174	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs547269125	chr3:121466176-121466177	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs568018951	chr3:121466186-121466187	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs200614522	chr3:121466187-121466188	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs556447412	chr3:121466193-121466194	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs140703127	chr3:121466198-121466199	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs538623462	chr3:121466206-121466207	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs536154161	chr3:121466217-121466218	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs112485604	chr3:121466220-121466221	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs556038886	chr3:121466221-121466222	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs558933264	chr3:121466224-121466225	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs575580065	chr3:121466231-121466232	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs188439422	chr3:121466254-121466255	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs554686895	chr3:121466261-121466262	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs367819486	chr3:121466317-121466318	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs566435304	chr3:121466360-121466361	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs544307014	chr3:121466373-121466374	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs573500326	chr3:121466412-121466413	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs192223504	chr3:121466452-121466453	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs78535641	chr3:121466501-121466502	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121436600-121466600	Weak transcription	Stomach Mucosa	stomach
2	chr3:121439400-121467200	Weak transcription	Small Intestine	intestine
3	chr3:121444600-121466400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr3:121444800-121466400	Weak transcription	Colonic Mucosa	Colon
5	chr3:121444800-121467200	Weak transcription	Aorta	Aorta
6	chr3:121444800-121467400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:121444800-121467400	Weak transcription	Spleen	Spleen
8	chr3:121445200-121466200	Weak transcription	Fetal Intestine Small	intestine
9	chr3:121445200-121466800	Weak transcription	Thymus	Thymus
10	chr3:121445200-121467400	Weak transcription	Esophagus	oesophagus
11	chr3:121445800-121467000	Weak transcription	Fetal Stomach	stomach
12	chr3:121445800-121467400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:121447600-121467000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:121447800-121466400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr3:121447800-121467000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:121448000-121466400	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:121448000-121466400	Weak transcription	Fetal Kidney	kidney
18	chr3:121448200-121466600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr3:121448400-121466400	Weak transcription	HSMM	muscle
20	chr3:121448400-121466800	Weak transcription	Hela-S3	cervix
21	chr3:121448600-121466400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:121448800-121465600	Weak transcription	HUVEC	blood vessel
23	chr3:121448800-121466400	Weak transcription	Fetal Lung	lung
24	chr3:121448800-121466400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr3:121448800-121466800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr3:121448800-121467400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr3:121448800-121467400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr3:121449000-121466400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr3:121449000-121466400	Weak transcription	HepG2	liver
30	chr3:121449000-121466800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr3:121449000-121467200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr3:121449000-121467200	Weak transcription	Fetal Thymus	thymus
33	chr3:121449600-121466400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:121449600-121466800	Weak transcription	Primary B cells from cord blood	blood
35	chr3:121449800-121467000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr3:121449800-121467200	Weak transcription	Placenta	Placenta
37	chr3:121450000-121466400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr3:121450000-121466400	Weak transcription	Fetal Intestine Large	intestine
39	chr3:121450000-121467000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr3:121450400-121466400	Weak transcription	HSMMtube	muscle
41	chr3:121450400-121466800	Weak transcription	Primary T cells from cord blood	blood
42	chr3:121450400-121467400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:121450600-121466400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr3:121450600-121466400	Weak transcription	Brain Substantia Nigra	brain
45	chr3:121451000-121466400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:121453800-121466400	Weak transcription	HMEC	breast
47	chr3:121454200-121466400	Weak transcription	NHDF-Ad	bronchial
48	chr3:121454200-121466800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:121454400-121466400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:121455000-121466800	Weak transcription	NHEK	skin

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