Variant report

Variant	nsv524922
Chromosome Location	chr3:24265142-24267039
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:23958230..23959847-chr3:24266678..24268323,2	MCF-7	breast:
2	chr3:24259435..24261786-chr3:24263751..24265876,2	K562	blood:
3	chr3:24258383..24262308-chr3:24263138..24268304,6	K562	blood:

Variant related genes	Relation type
ENSG00000197885	chromatin interactions
ENSG00000174748	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2683532	chr3:24265142-24265143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572426338	chr3:24265144-24265145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4858109	chr3:24265184-24265185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554912047	chr3:24265229-24265230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576446730	chr3:24265295-24265296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543641363	chr3:24265368-24265369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111952927	chr3:24265383-24265384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs68056592	chr3:24265384-24265385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148803754	chr3:24265385-24265386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373155466	chr3:24265386-24265387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559060625	chr3:24265389-24265390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572618739	chr3:24265428-24265429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192410742	chr3:24265544-24265545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369053551	chr3:24265554-24265555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78343964	chr3:24265619-24265620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183297333	chr3:24265628-24265629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188959056	chr3:24265635-24265636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531906754	chr3:24265639-24265640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193089715	chr3:24265660-24265661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571522239	chr3:24265665-24265666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185196617	chr3:24265670-24265671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554649986	chr3:24265671-24265672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138605449	chr3:24265673-24265674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189658146	chr3:24265682-24265683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377596927	chr3:24265723-24265724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149390749	chr3:24265757-24265758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62253717	chr3:24265758-24265759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs711733	chr3:24265759-24265760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs576383453	chr3:24265762-24265763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62253718	chr3:24265765-24265766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs558753051	chr3:24265815-24265816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201452550	chr3:24265842-24265843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73144436	chr3:24265848-24265849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192744258	chr3:24265857-24265858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373539104	chr3:24265861-24265862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559410265	chr3:24265908-24265909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574492360	chr3:24265940-24265941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6773583	chr3:24265942-24265943	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs115462688	chr3:24265943-24265944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12637774	chr3:24265951-24265952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550082444	chr3:24265964-24265965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565289959	chr3:24265979-24265980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542135876	chr3:24265994-24265995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138533338	chr3:24265996-24265997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116112793	chr3:24266005-24266006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6784894	chr3:24266091-24266092	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs370345179	chr3:24266140-24266141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73037699	chr3:24266177-24266178	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs62253719	chr3:24266187-24266188	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs142723138	chr3:24266200-24266201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24239000-24268200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:24251400-24279200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr3:24252400-24276400	Weak transcription	HepG2	liver
4	chr3:24255000-24268000	Weak transcription	Brain Anterior Caudate	brain
5	chr3:24257400-24274000	Weak transcription	Pancreas	Pancrea
6	chr3:24262000-24268600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:24262200-24283200	Weak transcription	Fetal Stomach	stomach
8	chr3:24262400-24266200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:24262600-24266000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:24262600-24266200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr3:24262600-24266200	Weak transcription	Adipose Nuclei	Adipose
12	chr3:24262600-24268600	Weak transcription	Lung	lung
13	chr3:24262600-24283200	Weak transcription	Left Ventricle	heart
14	chr3:24262800-24265800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:24262800-24265800	Weak transcription	Fetal Lung	lung
16	chr3:24263000-24265800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:24263000-24265800	Weak transcription	HUVEC	blood vessel
18	chr3:24263000-24266200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:24263000-24266200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:24263000-24266400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:24263000-24266600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:24263000-24266600	Weak transcription	Ovary	ovary
23	chr3:24263000-24283000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:24263200-24265800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:24263200-24266000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr3:24263200-24266800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:24263200-24273800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:24264000-24266200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr3:24264000-24275400	Weak transcription	Psoas Muscle	Psoas
30	chr3:24264200-24266000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:24264600-24266000	Weak transcription	Colon Smooth Muscle	Colon
32	chr3:24264600-24270600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr3:24264600-24276800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:24264800-24265800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr3:24264800-24266000	Weak transcription	Aorta	Aorta
36	chr3:24264800-24266400	Weak transcription	HMEC	breast
37	chr3:24264800-24266600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:24264800-24266600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:24264800-24266800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:24264800-24267000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr3:24264800-24267000	Weak transcription	NHLF	lung
42	chr3:24264800-24268000	Weak transcription	Fetal Intestine Large	intestine
43	chr3:24264800-24268000	Weak transcription	Fetal Intestine Small	intestine
44	chr3:24264800-24268600	Weak transcription	Liver	Liver
45	chr3:24264800-24271000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:24264800-24276400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr3:24265000-24266400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:24265800-24266000	Enhancers	HUVEC	blood vessel
49	chr3:24265800-24267000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr3:24265800-24267200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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