Variant report

Variant	nsv877223
Chromosome Location	chr3:100817043-100871443
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:100427252..100429023-chr3:100866394..100868641,2	K562	blood:
2	chr3:100853979..100855977-chr3:100858915..100860520,2	K562	blood:
3	chr3:100838567..100841463-chr3:100850450..100853216,2	K562	blood:
4	chr3:100818159..100820573-chr3:100849584..100852444,2	K562	blood:
5	chr3:100837034..100839594-chr3:100842737..100844659,2	K562	blood:
6	chr3:100861127..100863800-chr3:100869872..100872013,3	K562	blood:
7	chr3:100860391..100862524-chr3:100864035..100866712,2	K562	blood:
8	chr3:100860391..100862524-chr3:100864035..100866712,2	K562	blood:
9	chr3:100838567..100841463-chr3:100849603..100853216,3	K562	blood:
10	chr3:100859668..100862524-chr3:100863503..100868980,10	K562	blood:
11	chr3:100853979..100855977-chr3:100858915..100860520,2	K562	blood:
12	chr3:100862214..100864223-chr3:100875141..100877999,2	K562	blood:
13	chr3:100853621..100855255-chr3:100868123..100871054,2	K562	blood:
14	chr3:100837034..100839594-chr3:100842737..100844659,2	K562	blood:
15	chr3:100859668..100862524-chr3:100863503..100868980,10	K562	blood:
16	chr3:100788987..100791271-chr3:100835784..100837518,2	K562	blood:
17	chr3:100826454..100827093-chr3:100915072..100915625,2	MCF-7	breast:
18	chr3:100862855..100865653-chr3:100866375..100868963,2	K562	blood:
19	chr3:100862855..100865653-chr3:100866375..100868963,2	K562	blood:
20	chr3:100818159..100820573-chr3:100849584..100852444,2	K562	blood:
21	chr3:100858738..100861546-chr3:100886065..100888231,2	K562	blood:
22	chr3:100838567..100841463-chr3:100849603..100853216,3	K562	blood:
23	chr3:100838567..100841463-chr3:100850450..100853216,2	K562	blood:
24	chr3:100853621..100855255-chr3:100868123..100871054,2	K562	blood:
25	chr3:100865942..100869097-chr3:100876811..100879865,3	K562	blood:
26	chr3:100861127..100863800-chr3:100869872..100872013,3	K562	blood:
27	chr3:100847381..100850295-chr3:100875116..100876933,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000114354	chromatin interactions

Extended variants
information (count: 1513 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1513 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562261980	chr3:100817814-100817815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529529045	chr3:100817823-100817824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79340431	chr3:100817848-100817849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77987999	chr3:100817928-100817929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530560146	chr3:100817944-100817945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551995515	chr3:100817950-100817951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148357816	chr3:100817958-100817959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575288992	chr3:100817977-100817978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370551995	chr3:100818019-100818020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143298411	chr3:100818032-100818033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115198048	chr3:100818050-100818051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35628033	chr3:100818069-100818070	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564133326	chr3:100818091-100818092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535743131	chr3:100818094-100818095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572938760	chr3:100818202-100818203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557230830	chr3:100818223-100818224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569080127	chr3:100818224-100818225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555511006	chr3:100818225-100818226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557994664	chr3:100818234-100818235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192716491	chr3:100818276-100818277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540943978	chr3:100818330-100818331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184702237	chr3:100818341-100818342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1449316	chr3:100818342-100818343	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs574043016	chr3:100818343-100818344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75388038	chr3:100818421-100818422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13099994	chr3:100818423-100818424	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs531598876	chr3:100818453-100818454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189491999	chr3:100818549-100818550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545548605	chr3:100818573-100818574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181494179	chr3:100818597-100818598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528166931	chr3:100818669-100818670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7610265	chr3:100818693-100818694	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs147539653	chr3:100818708-100818709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138623572	chr3:100818755-100818756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1848252	chr3:100818827-100818828	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs142704859	chr3:100818834-100818835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184444987	chr3:100818835-100818836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557920221	chr3:100818852-100818853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566882842	chr3:100818915-100818916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534297700	chr3:100818934-100818935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78261566	chr3:100818941-100818942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150730081	chr3:100818947-100818948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139092460	chr3:100818963-100818964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77109309	chr3:100819032-100819033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13067042	chr3:100819042-100819043	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs60334089	chr3:100819080-100819081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190325226	chr3:100819092-100819093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73864319	chr3:100819093-100819094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568698059	chr3:100819126-100819127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572890664	chr3:100819155-100819156	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	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
Neurodevelopmental disorder	22521361	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100817800-100819400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:100817800-100819400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:100819600-100820800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr3:100820800-100821200	Enhancers	Fetal Stomach	stomach
5	chr3:100820800-100822000	Enhancers	Fetal Lung	lung
6	chr3:100820800-100822800	Enhancers	Rectal Smooth Muscle	rectum
7	chr3:100821000-100821400	Enhancers	Stomach Smooth Muscle	stomach
8	chr3:100821000-100822400	Enhancers	Colon Smooth Muscle	Colon
9	chr3:100821200-100822600	Weak transcription	Fetal Stomach	stomach
10	chr3:100821400-100821600	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr3:100821400-100821800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:100821600-100821800	Enhancers	Stomach Smooth Muscle	stomach
13	chr3:100821800-100822000	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr3:100822000-100822200	Enhancers	Stomach Smooth Muscle	stomach
15	chr3:100822000-100823000	Weak transcription	Fetal Lung	lung
16	chr3:100822600-100823400	Enhancers	Fetal Stomach	stomach
17	chr3:100823200-100823400	Enhancers	Fetal Lung	lung
18	chr3:100834400-100834800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:100836400-100837000	Enhancers	K562	blood
20	chr3:100836600-100837200	Enhancers	NHDF-Ad	bronchial
21	chr3:100836600-100839000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:100836800-100837000	Enhancers	HSMM	muscle
23	chr3:100837000-100837800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr3:100837000-100838000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:100837200-100838200	Weak transcription	HSMM	muscle
26	chr3:100837200-100838200	Weak transcription	NHDF-Ad	bronchial
27	chr3:100837800-100838600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr3:100837800-100838800	Enhancers	NHLF	lung
29	chr3:100837800-100839200	Enhancers	Osteobl	bone
30	chr3:100838000-100839000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr3:100838200-100838600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:100838200-100838800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:100838200-100838800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:100838200-100838800	Enhancers	HSMM	muscle
35	chr3:100838200-100839000	Enhancers	NHDF-Ad	bronchial
36	chr3:100838400-100838800	Enhancers	NH-A	brain
37	chr3:100838600-100839000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr3:100838600-100839000	Enhancers	HSMMtube	muscle
39	chr3:100839000-100842800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr3:100839000-100842800	Weak transcription	NHDF-Ad	bronchial
41	chr3:100839200-100847800	Weak transcription	Osteobl	bone
42	chr3:100840000-100840200	Enhancers	Fetal Intestine Small	intestine
43	chr3:100840200-100840400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:100840200-100841400	Weak transcription	Fetal Intestine Small	intestine
45	chr3:100841400-100843000	Enhancers	Fetal Intestine Small	intestine
46	chr3:100841400-100843200	Enhancers	Fetal Intestine Large	intestine
47	chr3:100842800-100843000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr3:100842800-100843200	Enhancers	NHDF-Ad	bronchial
49	chr3:100843000-100843800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:100845600-100846000	Bivalent Enhancer	Fetal Brain Male	brain

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