Variant report

Variant	esv2757014
Chromosome Location	chr3:142905661-142964373
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:69)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:69 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:142945884..142947891-chr3:142949125..142952561,4	K562	blood:
2	chr3:142910443..142912503-chr3:142926393..142928620,2	K562	blood:
3	chr3:142955679..142958275-chr3:142964132..142966713,2	K562	blood:
4	chr3:142943499..142945080-chr3:143037580..143040276,2	K562	blood:
5	chr3:142929546..142932145-chr3:142933219..142936261,3	K562	blood:
6	chr3:142917669..142921522-chr3:142924910..142927664,3	K562	blood:
7	chr3:142918300..142920057-chr3:142921412..142923080,2	K562	blood:
8	chr3:142951557..142953116-chr3:142953358..142955384,2	K562	blood:
9	chr3:142746681..142748663-chr3:142941428..142944295,2	K562	blood:
10	chr3:142914308..142916627-chr3:142918947..142921480,2	K562	blood:
11	chr3:142929546..142932145-chr3:142933219..142936261,3	K562	blood:
12	chr3:142940072..142941625-chr3:142954271..142955900,2	K562	blood:
13	chr3:142908825..142914026-chr3:142914356..142919906,7	K562	blood:
14	chr3:142926220..142927861-chr3:142959735..142962076,2	K562	blood:
15	chr3:142907861..142909717-chr3:142911559..142913814,2	K562	blood:
16	chr3:142930578..142932212-chr3:142932647..142934719,2	K562	blood:
17	chr3:142901683..142905677-chr3:142909688..142913196,5	K562	blood:
18	chr3:142904057..142907019-chr3:142910125..142912001,3	K562	blood:
19	chr3:142925537..142928123-chr3:142932131..142934327,2	K562	blood:
20	chr3:142948047..142951312-chr3:142952653..142957193,4	K562	blood:
21	chr3:142940072..142941625-chr3:142954271..142955900,2	K562	blood:
22	chr3:142955679..142958275-chr3:142964132..142966713,2	K562	blood:
23	chr3:142917101..142918800-chr3:142923414..142925582,2	K562	blood:
24	chr3:142954351..142956458-chr3:142960764..142964653,3	K562	blood:
25	chr3:142951962..142955904-chr3:142971401..142974768,3	K562	blood:
26	chr3:142918300..142920057-chr3:142921412..142923080,2	K562	blood:
27	chr3:142930578..142932212-chr3:142932647..142934719,2	K562	blood:
28	chr3:142945884..142947891-chr3:142949125..142952561,4	K562	blood:
29	chr3:142917669..142921522-chr3:142924910..142927664,3	K562	blood:
30	chr3:142922192..142925185-chr3:142931380..142934358,2	K562	blood:
31	chr3:142836629..142840100-chr3:142963244..142965654,3	K562	blood:
32	chr3:142938667..142941480-chr3:142941937..142946054,4	K562	blood:
33	chr3:142935120..142937637-chr3:142937877..142939570,2	MCF-7	breast:
34	chr3:142904057..142907019-chr3:142910125..142912001,3	K562	blood:
35	chr3:142837172..142841368-chr3:142932749..142935572,3	K562	blood:
36	chr3:142938667..142941480-chr3:142941937..142946054,4	K562	blood:
37	chr3:142901683..142905677-chr3:142909688..142913196,5	K562	blood:
38	chr3:142935120..142937637-chr3:142937877..142939570,2	MCF-7	breast:
39	chr3:142899439..142901462-chr3:142905793..142908005,2	K562	blood:
40	chr3:142907021..142910266-chr3:142911152..142913564,3	K562	blood:
41	chr3:142938475..142939430-chr3:142950578..142951319,2	MCF-7	breast:
42	chr3:142907861..142909717-chr3:142911559..142913814,2	K562	blood:
43	chr3:142918145..142921332-chr3:143025862..143029822,3	K562	blood:
44	chr3:142908825..142914026-chr3:142914356..142919906,7	K562	blood:
45	chr3:142948047..142951312-chr3:142952653..142957193,4	K562	blood:
46	chr3:142938475..142939430-chr3:142950578..142951319,2	MCF-7	breast:
47	chr3:142962865..142964794-chr3:142967835..142970348,2	K562	blood:
48	chr3:142921678..142924452-chr3:142925121..142926893,2	K562	blood:
49	chr3:142842312..142844525-chr3:142920222..142922927,2	K562	blood:
50	chr3:142910443..142912503-chr3:142926393..142928620,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHST2-10	chr3:142951611-142951872	l_2486_chr3:142951418-142976230_ovary
2	lnc-CHST2-10	chr3:142951419-142951544	l_2486_chr3:142951418-142976230_ovary

No data

Variant related genes	Relation type
ENSG00000175040	chromatin interactions

Extended variants
information (count: 2209 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2209 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6776634	chr3:142905661-142905662	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146009482	chr3:142905697-142905698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1667719	chr3:142905729-142905730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190900	chr3:142905754-142905755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546278842	chr3:142905757-142905758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549330065	chr3:142905769-142905770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567555937	chr3:142905786-142905787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374277027	chr3:142905803-142905804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528343691	chr3:142905830-142905831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1667721	chr3:142905859-142905860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546772551	chr3:142905865-142905866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571330818	chr3:142905880-142905881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538323335	chr3:142905938-142905939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs973681	chr3:142905950-142905951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556938418	chr3:142905960-142905961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142243960	chr3:142906004-142906005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151245146	chr3:142906015-142906016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554885140	chr3:142906052-142906053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573153693	chr3:142906110-142906111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534131938	chr3:142906174-142906175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182897369	chr3:142906253-142906254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577286860	chr3:142906273-142906274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549687521	chr3:142906317-142906318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112672650	chr3:142906329-142906330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186625451	chr3:142906338-142906339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544417805	chr3:142906372-142906373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115972699	chr3:142906382-142906383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561603035	chr3:142906414-142906415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74863173	chr3:142906423-142906424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34006968	chr3:142906434-142906435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542239937	chr3:142906450-142906451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140423888	chr3:142906503-142906504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528355915	chr3:142906558-142906559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546789363	chr3:142906580-142906581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528948459	chr3:142906595-142906596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145351233	chr3:142906634-142906635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368487014	chr3:142906654-142906655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550440771	chr3:142906659-142906660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368610369	chr3:142906661-142906662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568927196	chr3:142906675-142906676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs294469	chr3:142906681-142906682	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs374690036	chr3:142906733-142906734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547740564	chr3:142906746-142906747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566837705	chr3:142906766-142906767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534191322	chr3:142906817-142906818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559182501	chr3:142906818-142906819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369484826	chr3:142906834-142906835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147686070	chr3:142906838-142906839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112204874	chr3:142906866-142906867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs294468	chr3:142906885-142906886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Cancer	20164919	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142893200-142909200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr3:142902400-142908600	Weak transcription	Primary T cells from cord blood	blood
3	chr3:142902600-142909200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr3:142902600-142909200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr3:142903000-142906800	Enhancers	K562	blood
6	chr3:142903200-142908000	Weak transcription	Fetal Thymus	thymus
7	chr3:142904800-142906600	Enhancers	Dnd41	blood
8	chr3:142905800-142906400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:142906000-142906200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:142906400-142907400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:142906400-142907600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:142906600-142909600	Weak transcription	Dnd41	blood
13	chr3:142906800-142910400	Weak transcription	K562	blood
14	chr3:142907600-142907800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:142907600-142907800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:142907600-142908200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:142908000-142908800	Enhancers	Fetal Thymus	thymus
18	chr3:142908600-142909600	Strong transcription	Primary T cells from cord blood	blood
19	chr3:142908800-142910600	Weak transcription	Fetal Thymus	thymus
20	chr3:142909200-142909600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:142909200-142909800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr3:142909200-142909800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:142909200-142910600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr3:142909200-142911000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr3:142909400-142910600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr3:142909400-142911400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr3:142909600-142909800	Genic enhancers	Primary T cells from cord blood	blood
28	chr3:142909600-142910400	Enhancers	Dnd41	blood
29	chr3:142909800-142910200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr3:142909800-142910200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr3:142909800-142910600	Weak transcription	Primary T cells from cord blood	blood
32	chr3:142910200-142911000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr3:142910400-142910600	Flanking Active TSS	Dnd41	blood
34	chr3:142910400-142911000	Enhancers	K562	blood
35	chr3:142910400-142911200	Enhancers	GM12878-XiMat	blood
36	chr3:142910400-142911400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr3:142910600-142911000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr3:142910600-142911000	Enhancers	Aorta	Aorta
39	chr3:142910600-142911000	Enhancers	Dnd41	blood
40	chr3:142910600-142911400	Enhancers	Primary T cells from cord blood	blood
41	chr3:142910600-142911400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr3:142910600-142911600	Enhancers	Fetal Thymus	thymus
43	chr3:142911000-142911400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr3:142911000-142911400	Weak transcription	Aorta	Aorta
45	chr3:142911000-142911600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr3:142911000-142911600	Flanking Active TSS	Dnd41	blood
47	chr3:142911200-142911400	Flanking Active TSS	GM12878-XiMat	blood
48	chr3:142911400-142911600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr3:142911400-142911600	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr3:142911400-142911600	Enhancers	Aorta	Aorta

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