Variant report

Variant	nsv527561
Chromosome Location	chr3:24285768-24313506
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:0)
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	chr3:24305546..24307619-chr3:24343999..24346600,2	MCF-7	breast:
2	chr3:24310446..24312352-chr3:24315902..24317669,2	MCF-7	breast:
3	chr17:59493988..59494767-chr3:24306189..24306755,2	MCF-7	breast:
4	chr3:23958551..23960055-chr3:24295858..24297898,2	K562	blood:
5	chr3:24305947..24306863-chr3:24537889..24538429,2	MCF-7	breast:
6	chr3:24284818..24287512-chr3:24293603..24295471,2	MCF-7	breast:
7	chr3:24305746..24306763-chr3:24537733..24538685,3	MCF-7	breast:
8	chr3:24253238..24254897-chr3:24293051..24294557,2	K562	blood:
9	chr3:24301681..24305392-chr3:24534206..24538059,6	K562	blood:
10	chr3:24304507..24306976-chr3:24398262..24401260,2	MCF-7	breast:
11	chr3:24285217..24287129-chr3:24288339..24291168,2	K562	blood:
12	chr3:24295617..24298486-chr3:24535596..24538208,2	MCF-7	breast:
13	chr3:24303622..24310321-chr3:24533981..24541253,19	MCF-7	breast:
14	chr3:24305596..24307842-chr3:24555614..24558189,2	K562	blood:
15	chr3:24298797..24301703-chr3:24554490..24556064,2	K562	blood:
16	chr3:24310060..24312090-chr3:24531891..24534333,2	MCF-7	breast:
17	chr3:24284818..24287512-chr3:24293603..24295471,2	MCF-7	breast:
18	chr3:24305621..24308372-chr3:24314750..24317719,2	K562	blood:
19	chr3:24306694..24308356-chr3:24311478..24313888,2	K562	blood:
20	chr3:24311445..24313082-chr3:24536182..24537899,2	K562	blood:
21	chr3:24313227..24314767-chr3:24532940..24535103,2	MCF-7	breast:
22	chr3:24305905..24306801-chr3:24537491..24538283,2	K562	blood:
23	chr3:24312622..24314336-chr3:24535893..24537745,3	MCF-7	breast:
24	chr3:24305304..24306760-chr3:24623707..24624748,5	MCF-7	breast:
25	chr3:24297598..24300449-chr3:24300690..24305218,5	K562	blood:
26	chr3:24108403..24110217-chr3:24304127..24305953,2	K562	blood:
27	chr3:24292380..24293972-chr3:24295078..24296685,2	K562	blood:
28	chr3:24292380..24293972-chr3:24295078..24296685,2	K562	blood:
29	chr3:24305875..24306747-chr3:24681516..24682374,2	K562	blood:
30	chr3:24297598..24300449-chr3:24300690..24305218,5	K562	blood:
31	chr21:18341843..18342363-chr3:24310025..24310623,2	MCF-7	breast:
32	chr3:24309111..24311960-chr3:24536410..24538505,2	MCF-7	breast:
33	chr3:24300206..24302334-chr3:24536691..24538229,2	MCF-7	breast:
34	chr3:24310466..24314073-chr3:24315479..24317996,3	K562	blood:
35	chr3:24060176..24062310-chr3:24299277..24301761,2	K562	blood:
36	chr3:24308640..24310849-chr3:24311608..24314563,2	MCF-7	breast:
37	chr3:24296130..24297967-chr3:24299752..24301340,2	MCF-7	breast:
38	chr3:24306694..24308356-chr3:24311478..24313888,2	K562	blood:
39	chr3:24298149..24300449-chr3:24302708..24304769,2	K562	blood:
40	chr3:24313081..24314941-chr3:24318565..24320167,2	K562	blood:
41	chr3:24285217..24287129-chr3:24288339..24291168,2	K562	blood:
42	chr3:24308640..24310849-chr3:24311608..24314563,2	MCF-7	breast:
43	chr3:24299984..24301754-chr3:24305650..24307661,2	K562	blood:
44	chr3:24309007..24309812-chr3:24400838..24401771,2	MCF-7	breast:
45	chr3:24305982..24306914-chr3:24681528..24682464,3	MCF-7	breast:
46	chr3:24305072..24307020-chr3:24526305..24529102,2	K562	blood:
47	chr3:24298149..24300449-chr3:24302708..24304769,2	K562	blood:
48	chr3:24305879..24306714-chr3:24400956..24401773,2	MCF-7	breast:
49	chr3:24305923..24306824-chr3:24401700..24402457,2	MCF-7	breast:
50	chr3:24310959..24313922-chr3:24535459..24537992,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228791	chromatin interactions
ENSG00000151090	chromatin interactions
ENSG00000197885	chromatin interactions
ENSG00000272554	chromatin interactions
ENSG00000174748	chromatin interactions

Extended variants
information (count: 1198 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1198 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1562737	chr3:24285768-24285769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573861682	chr3:24285810-24285811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs202233254	chr3:24285830-24285831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544444477	chr3:24285858-24285859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556289909	chr3:24285926-24285927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113338039	chr3:24285940-24285941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544978584	chr3:24285943-24285944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144006893	chr3:24285971-24285972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528750409	chr3:24286025-24286026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544683316	chr3:24286039-24286040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146427897	chr3:24286042-24286043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117585049	chr3:24286131-24286132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533175732	chr3:24286193-24286194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191031797	chr3:24286205-24286206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140676046	chr3:24286301-24286302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78692421	chr3:24286307-24286308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75413736	chr3:24286322-24286323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150115131	chr3:24286330-24286331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs58509679	chr3:24286331-24286332	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs566765456	chr3:24286359-24286360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534231813	chr3:24286367-24286368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9812189	chr3:24286407-24286408	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567609614	chr3:24286415-24286416	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370608228	chr3:24286439-24286440	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538028810	chr3:24286461-24286462	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556401931	chr3:24286472-24286473	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183206798	chr3:24286486-24286487	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185808540	chr3:24286489-24286490	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189828632	chr3:24286492-24286493	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4858597	chr3:24286514-24286515	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565890605	chr3:24286522-24286523	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115224804	chr3:24286533-24286534	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562035227	chr3:24286543-24286544	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574007565	chr3:24286545-24286546	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544354504	chr3:24286564-24286565	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114833420	chr3:24286573-24286574	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182454865	chr3:24286601-24286602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551567158	chr3:24286606-24286607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528710982	chr3:24286638-24286639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548269646	chr3:24286668-24286669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13063503	chr3:24286706-24286707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13063031	chr3:24286713-24286714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs13063505	chr3:24286714-24286715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13085803	chr3:24286735-24286736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13085804	chr3:24286736-24286737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201446426	chr3:24286756-24286757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs397945641	chr3:24286758-24286759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187728561	chr3:24286817-24286818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs13063225	chr3:24286822-24286823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9850764	chr3:24286878-24286879	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24268200-24291000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:24272400-24301400	Weak transcription	Fetal Intestine Large	intestine
3	chr3:24276600-24286200	Weak transcription	Liver	Liver
4	chr3:24277200-24286200	Weak transcription	HepG2	liver
5	chr3:24279600-24291400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:24283600-24297000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:24284200-24300600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:24284400-24286400	Weak transcription	Aorta	Aorta
9	chr3:24284400-24295200	Weak transcription	Fetal Stomach	stomach
10	chr3:24284600-24286000	Weak transcription	Brain Anterior Caudate	brain
11	chr3:24284600-24286200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:24284600-24286200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:24284600-24295200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:24284600-24300400	Weak transcription	Pancreas	Pancrea
15	chr3:24284800-24286400	Weak transcription	Psoas Muscle	Psoas
16	chr3:24285000-24296200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:24285200-24286200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:24285200-24286400	Weak transcription	Fetal Brain Male	brain
19	chr3:24285200-24299600	Weak transcription	Left Ventricle	heart
20	chr3:24285400-24285800	Weak transcription	Adipose Nuclei	Adipose
21	chr3:24285400-24294800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:24285600-24285800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr3:24285600-24286400	Weak transcription	Brain Germinal Matrix	brain
24	chr3:24285600-24291000	Weak transcription	Fetal Intestine Small	intestine
25	chr3:24285800-24286800	Enhancers	Adipose Nuclei	Adipose
26	chr3:24286200-24286400	Enhancers	Brain Anterior Caudate	brain
27	chr3:24286200-24286600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:24286200-24286600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:24286200-24286800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr3:24286200-24286800	Enhancers	HepG2	liver
31	chr3:24286200-24287000	Enhancers	Liver	Liver
32	chr3:24286400-24286600	Genic enhancers	Aorta	Aorta
33	chr3:24286400-24287000	Enhancers	Psoas Muscle	Psoas
34	chr3:24286600-24286800	Enhancers	Aorta	Aorta
35	chr3:24286600-24286800	Enhancers	Brain Germinal Matrix	brain
36	chr3:24286600-24286800	Enhancers	Fetal Brain Male	brain
37	chr3:24286800-24294800	Weak transcription	Aorta	Aorta
38	chr3:24286800-24299200	Weak transcription	Adipose Nuclei	Adipose
39	chr3:24287000-24290000	Weak transcription	Psoas Muscle	Psoas
40	chr3:24290000-24290200	Enhancers	Psoas Muscle	Psoas
41	chr3:24291000-24291200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr3:24291000-24291600	Enhancers	Fetal Intestine Small	intestine
43	chr3:24291000-24291600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr3:24291200-24291600	Enhancers	Stomach Mucosa	stomach
45	chr3:24291400-24291600	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr3:24291600-24293400	Weak transcription	Stomach Mucosa	stomach
47	chr3:24291600-24294800	Weak transcription	Fetal Intestine Small	intestine
48	chr3:24293400-24293800	Enhancers	Stomach Mucosa	stomach
49	chr3:24293600-24295000	Enhancers	Placenta Amnion	Placenta Amnion
50	chr3:24294200-24295000	Weak transcription	Psoas Muscle	Psoas

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