Variant report

Variant	nsv1004792
Chromosome Location	chr3:144658885-145191801
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:54)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:145047302..145049061-chr3:145051775..145054184,2	K562	blood:
2	chr3:144921874..144923525-chr3:144926968..144929647,2	K562	blood:
3	chr3:144801248..144803452-chr3:144804044..144806004,2	MCF-7	breast:
4	chr3:145070588..145072380-chr3:145074616..145076227,2	MCF-7	breast:
5	chr3:145072717..145074625-chr3:145076447..145079320,2	MCF-7	breast:
6	chr3:144984029..144984834-chr3:145416240..145416755,2	MCF-7	breast:
7	chr3:144968846..144970924-chr3:144975225..144978166,2	MCF-7	breast:
8	chr3:144743763..144746296-chr3:144748926..144751445,2	MCF-7	breast:
9	chr11:39310342..39312522-chr3:144736797..144739466,2	MCF-7	breast:
10	chr3:144921874..144923525-chr3:144926968..144929647,2	K562	blood:
11	chr3:144681479..144683361-chr3:144684268..144686826,2	K562	blood:
12	chr3:144677268..144680196-chr3:144681533..144683917,2	MCF-7	breast:
13	chr3:145089993..145092059-chr3:145098025..145100330,2	MCF-7	breast:
14	chr3:144968846..144970924-chr3:144975225..144978166,2	MCF-7	breast:
15	chr3:145070588..145072380-chr3:145074616..145076227,2	MCF-7	breast:
16	chr3:144907743..144909618-chr3:144913661..144915223,2	K562	blood:
17	chr3:145063874..145066771-chr3:145068629..145070450,2	K562	blood:
18	chr3:144677268..144680196-chr3:144681533..144683917,2	MCF-7	breast:
19	chr3:145182997..145184814-chr3:145187596..145189465,2	MCF-7	breast:
20	chr3:145006504..145009118-chr3:145011068..145013301,2	MCF-7	breast:
21	chr3:144561362..144562332-chr3:144947459..144947984,2	MCF-7	breast:
22	chr3:144983651..144984522-chr3:145123095..145123660,2	MCF-7	breast:
23	chr3:145083751..145085344-chr3:145088911..145090506,2	K562	blood:
24	chr3:145047302..145049061-chr3:145051775..145054184,2	K562	blood:
25	chr3:144704871..144707532-chr3:144708547..144711084,3	K562	blood:
26	chr3:145151670..145153633-chr3:145165383..145167143,2	K562	blood:
27	chr3:144801248..144803452-chr3:144804044..144806004,2	MCF-7	breast:
28	chr3:144983996..144984506-chr3:145485486..145486139,2	MCF-7	breast:
29	chr3:144984069..144984806-chr3:145485343..145486312,4	MCF-7	breast:
30	chr3:144743763..144746296-chr3:144748926..144751445,2	MCF-7	breast:
31	chr3:145151670..145153633-chr3:145165383..145167143,2	K562	blood:
32	chr3:145061451..145063891-chr3:145082446..145084868,2	K562	blood:
33	chr3:145083751..145085344-chr3:145088911..145090506,2	K562	blood:
34	chr3:145089993..145092059-chr3:145098025..145100330,2	MCF-7	breast:
35	chr3:144681479..144683361-chr3:144684268..144686826,2	K562	blood:
36	chr3:145182997..145184814-chr3:145187596..145189465,2	MCF-7	breast:
37	chr3:145113957..145115664-chr3:145117395..145120125,2	MCF-7	breast:
38	chr3:145113957..145115664-chr3:145117395..145120125,2	MCF-7	breast:
39	chr3:145011656..145013483-chr3:145013706..145015700,2	MCF-7	breast:
40	chr3:145061451..145063891-chr3:145082446..145084868,2	K562	blood:
41	chr3:144956656..144959403-chr3:144961256..144963279,2	K562	blood:
42	chr3:145063874..145066771-chr3:145068629..145070450,2	K562	blood:
43	chr3:144893866..144896730-chr3:144914828..144916651,2	MCF-7	breast:
44	chr3:145021934..145024791-chr3:145028136..145030465,2	K562	blood:
45	chr3:145021934..145024791-chr3:145028136..145030465,2	K562	blood:
46	chr3:145011656..145013483-chr3:145013706..145015700,2	MCF-7	breast:
47	chr12:57751005..57751961-chr3:144675108..144675976,2	MCF-7	breast:
48	chr3:144893866..144896730-chr3:144914828..144916651,2	MCF-7	breast:
49	chr3:144704871..144707532-chr3:144708547..144711084,3	K562	blood:
50	chr3:145072717..145074625-chr3:145076447..145079320,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC107021.1-9	chr3:145093215-145098582	NONHSAT092537
2	lnc-AC107021.1-9	chr3:145091512-145091541	NONHSAT092537

No data

Extended variants
information (count: 6972 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:6972 , 50 per page) page: 1 2 3 4 5 6 7 ... 140

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528326964	chr3:144661009-144661010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113961438	chr3:144661025-144661026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187992519	chr3:144661038-144661039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564782741	chr3:144661116-144661117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78676446	chr3:144661139-144661140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368135963	chr3:144661152-144661153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4611857	chr3:144661211-144661212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79177412	chr3:144661240-144661241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77534234	chr3:144661288-144661289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556106478	chr3:144661289-144661290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540394917	chr3:144661342-144661343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567951152	chr3:144661376-144661377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535272742	chr3:144661379-144661380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114334572	chr3:144661394-144661395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180922502	chr3:144661402-144661403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558755409	chr3:144661433-144661434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79993478	chr3:144661435-144661436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544793598	chr3:144661440-144661441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4541446	chr3:144661442-144661443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs185179446	chr3:144661444-144661445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs66492371	chr3:144661471-144661472	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs140376523	chr3:144661487-144661488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528352437	chr3:144661495-144661496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540453218	chr3:144661499-144661500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112330386	chr3:144661512-144661513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145643767	chr3:144661522-144661523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551909002	chr3:144661552-144661553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537915880	chr3:144661553-144661554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372365374	chr3:144661595-144661596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140410965	chr3:144664404-144664405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538053369	chr3:144664412-144664413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549779491	chr3:144664428-144664429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568396840	chr3:144664431-144664432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6794760	chr3:144664456-144664457	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs201893288	chr3:144664461-144664462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189360314	chr3:144664465-144664466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574794613	chr3:144664533-144664534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144149017	chr3:144664537-144664538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370229823	chr3:144664540-144664541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146558843	chr3:144664556-144664557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576922641	chr3:144664581-144664582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182195822	chr3:144664590-144664591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73159547	chr3:144664737-144664738	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs372915841	chr3:144666661-144666662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75758364	chr3:144666723-144666724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147321988	chr3:144666733-144666734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116465977	chr3:144666737-144666738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541061930	chr3:144666744-144666745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559095571	chr3:144666765-144666766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532718556	chr3:144666779-144666780	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Basal cell lymphoma	21115979	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
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Schizophrenia	20967226	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144661000-144661600	Enhancers	HUVEC	blood vessel
2	chr3:144664400-144664800	Enhancers	Liver	Liver
3	chr3:144666600-144668000	Enhancers	Colon Smooth Muscle	Colon
4	chr3:144676200-144677000	Enhancers	Rectal Smooth Muscle	rectum
5	chr3:144677000-144677200	Enhancers	Colon Smooth Muscle	Colon
6	chr3:144677800-144678000	Enhancers	Colon Smooth Muscle	Colon
7	chr3:144681800-144682600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:144682000-144682400	Enhancers	Fetal Muscle Leg	muscle
9	chr3:144687200-144689000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:144702400-144702600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:144702600-144703000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:144703000-144703400	Enhancers	HMEC	breast
13	chr3:144703000-144704200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:144703400-144703600	Weak transcription	HMEC	breast
15	chr3:144703600-144704000	Enhancers	HMEC	breast
16	chr3:144704000-144708600	Weak transcription	HMEC	breast
17	chr3:144704200-144708600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:144704600-144705200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr3:144704800-144705200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr3:144704800-144705400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:144708600-144709000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:144708600-144709200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:144708600-144709200	Enhancers	HMEC	breast
24	chr3:144708600-144709200	Enhancers	NHDF-Ad	bronchial
25	chr3:144714000-144714800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:144714200-144714600	Active TSS	Brain Anterior Caudate	brain
27	chr3:144714400-144714800	Enhancers	Brain Hippocampus Middle	brain
28	chr3:144717800-144722200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:144718400-144718800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:144720000-144721200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:144724800-144725200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:144725200-144725800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:144725800-144726200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:144726200-144731800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:144729400-144730200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr3:144730200-144736400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr3:144731800-144732800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:144733000-144735400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:144733200-144733600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:144733600-144734800	Enhancers	NHEK	skin
41	chr3:144733800-144734600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr3:144733800-144734800	Enhancers	HMEC	breast
43	chr3:144733800-144734800	Enhancers	HUVEC	blood vessel
44	chr3:144734000-144734600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr3:144734600-144735400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:144734800-144735200	Weak transcription	HMEC	breast
47	chr3:144734800-144736600	Weak transcription	NHEK	skin
48	chr3:144735200-144735400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:144735200-144735400	Enhancers	HMEC	breast
50	chr3:144735400-144736200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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