Variant report

Variant	nsv1001888
Chromosome Location	chr3:144239415-144272509
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:144251291..144253188-chr3:144254585..144256641,2	K562	blood:
2	chr3:144251291..144253188-chr3:144254585..144256641,2	K562	blood:

Extended variants
information (count: 861 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:861 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547556909	chr3:144239455-144239456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577682250	chr3:144239463-144239464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544575668	chr3:144239513-144239514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149837628	chr3:144239579-144239580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575011042	chr3:144240608-144240609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372186006	chr3:144240643-144240644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190656342	chr3:144240682-144240683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1178896	chr3:144240689-144240690	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs573014641	chr3:144240696-144240697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114868310	chr3:144240722-144240723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182580400	chr3:144240723-144240724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577139950	chr3:144240772-144240773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540144459	chr3:144240773-144240774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563735597	chr3:144240835-144240836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73871205	chr3:144240845-144240846	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549059109	chr3:144240906-144240907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373360625	chr3:144240944-144240945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561342654	chr3:144240946-144240947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs137965610	chr3:144240976-144240977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185754745	chr3:144240980-144240981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375151246	chr3:144240987-144240988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190375575	chr3:144241019-144241020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141676199	chr3:144241020-144241021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550784077	chr3:144241066-144241067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150564168	chr3:144241069-144241070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56719595	chr3:144241160-144241161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1178897	chr3:144241161-144241162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs370800601	chr3:144241184-144241185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534469008	chr3:144241199-144241200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554261002	chr3:144241246-144241247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35469177	chr3:144241285-144241286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138558985	chr3:144241295-144241296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533826263	chr3:144241297-144241298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7627154	chr3:144241298-144241299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs57148889	chr3:144241299-144241300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577222183	chr3:144241345-144241346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548446677	chr3:144241385-144241386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552574255	chr3:144241403-144241404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544391124	chr3:144241416-144241417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556393846	chr3:144241432-144241433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73011046	chr3:144241454-144241455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1182797	chr3:144241495-144241496	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs56178175	chr3:144241517-144241518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs149329834	chr3:144241518-144241519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540284346	chr3:144241532-144241533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565211190	chr3:144241533-144241534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532670102	chr3:144241548-144241549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187769415	chr3:144241558-144241559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs193243896	chr3:144241567-144241568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111721389	chr3:144241583-144241584	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	21509527	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144239200-144239600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:144240600-144241600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:144240600-144241800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:144240800-144241600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:144240800-144241600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:144241000-144241400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:144241000-144242000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:144241000-144242400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:144241200-144241800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:144241800-144243200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:144242400-144242600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:144242400-144243200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:144243200-144243600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:144243200-144243800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:144243200-144244000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:144243200-144244000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:144243200-144244000	Enhancers	Adipose Nuclei	Adipose
18	chr3:144243400-144244000	Enhancers	NHDF-Ad	bronchial
19	chr3:144247200-144249200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:144247600-144247800	Enhancers	Fetal Intestine Large	intestine
21	chr3:144247600-144250000	Enhancers	Fetal Intestine Small	intestine
22	chr3:144248000-144248600	Weak transcription	Fetal Intestine Large	intestine
23	chr3:144248600-144248800	Enhancers	Fetal Intestine Large	intestine
24	chr3:144248800-144249400	Weak transcription	Fetal Intestine Large	intestine
25	chr3:144249200-144252600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:144249600-144249800	Enhancers	Fetal Intestine Large	intestine
27	chr3:144252600-144252800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:144252800-144253400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:144253400-144254400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:144254400-144256200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:144255200-144259000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:144256200-144256600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:144266000-144266600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:144266400-144267800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr3:144266400-144268800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr3:144266400-144269000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:144266600-144267800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr3:144266600-144267800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:144266600-144267800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr3:144266600-144269000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:144266600-144269400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr3:144266600-144271000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:144266800-144268800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr3:144267000-144269000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr3:144267200-144268400	Enhancers	Fetal Lung	lung
46	chr3:144267200-144268600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr3:144267200-144268800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:144267200-144269000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:144267400-144268800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:144267800-144268200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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