Variant report

Variant	nsv3734
Chromosome Location	chr3:24861568-24906866
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:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:24859239..24862090-chr3:24863979..24866552,3	K562	blood:
2	chr3:24897875..24899735-chr3:24905907..24907899,2	K562	blood:
3	chr3:24870259..24872185-chr3:24874165..24877170,4	MCF-7	breast:
4	chr3:24859239..24862090-chr3:24863979..24866552,3	K562	blood:
5	chr3:24885574..24888444-chr3:24888705..24892606,3	K562	blood:
6	chr3:24870259..24872185-chr3:24874165..24877170,4	MCF-7	breast:
7	chr3:24890880..24892601-chr3:24892985..24895206,2	MCF-7	breast:
8	chr3:24885574..24888444-chr3:24888705..24892606,3	K562	blood:
9	chr3:24890880..24892601-chr3:24892985..24895206,2	MCF-7	breast:
10	chr3:24858439..24860739-chr3:24863902..24866552,2	K562	blood:
11	chr3:24897875..24899735-chr3:24905907..24907899,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RARB-1	chr3:24874580-24874713	ENSG00000237838
2	lnc-RARB-1	chr3:24900165-24900243	ENSG00000237838

No data

Extended variants
information (count: 1134 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1134 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553436521	chr3:24866670-24866671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574863156	chr3:24866674-24866675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535790015	chr3:24866676-24866677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532721993	chr3:24866689-24866690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557231897	chr3:24866726-24866727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552875077	chr3:24866731-24866732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566289194	chr3:24866739-24866740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575403114	chr3:24866764-24866765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550508654	chr3:24867408-24867409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535853182	chr3:24867454-24867455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114745407	chr3:24867561-24867562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138252235	chr3:24869726-24869727	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs12488250	chr3:24869737-24869738	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs76166581	chr3:24869750-24869751	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs143335099	chr3:24869817-24869818	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs556106631	chr3:24869826-24869827	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs574225198	chr3:24869897-24869898	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs183987524	chr3:24869906-24869907	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs563062287	chr3:24869947-24869948	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs578060749	chr3:24870014-24870015	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs542586624	chr3:24870047-24870048	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs532108327	chr3:24870059-24870060	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs527668938	chr3:24870088-24870089	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs548924075	chr3:24870100-24870101	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs561048854	chr3:24870103-24870104	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs137920119	chr3:24870116-24870117	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs531599101	chr3:24870143-24870144	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs79750378	chr3:24870154-24870155	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs571399152	chr3:24870161-24870162	Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs143080828	chr3:24870201-24870202	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547508169	chr3:24870282-24870283	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552911597	chr3:24870321-24870322	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536259975	chr3:24870380-24870381	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377331362	chr3:24870451-24870452	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190002296	chr3:24870471-24870472	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560038729	chr3:24870477-24870478	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538512887	chr3:24870487-24870488	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562885264	chr3:24870502-24870503	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556506432	chr3:24870505-24870506	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7637116	chr3:24870522-24870523	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545138369	chr3:24870597-24870598	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115350388	chr3:24870603-24870604	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192250681	chr3:24870604-24870605	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542627469	chr3:24870728-24870729	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561320788	chr3:24870735-24870736	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531536756	chr3:24870759-24870760	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550048147	chr3:24870781-24870782	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564976156	chr3:24870826-24870827	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs184590782	chr3:24870859-24870860	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs547571084	chr3:24870872-24870873	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24866600-24866800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:24867400-24867600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr3:24869600-24869800	Bivalent Enhancer	Fetal Lung	lung
4	chr3:24869800-24870200	Enhancers	Colon Smooth Muscle	Colon
5	chr3:24869800-24870400	Enhancers	Fetal Lung	lung
6	chr3:24869800-24870400	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr3:24870000-24870200	Enhancers	Brain Hippocampus Middle	brain
8	chr3:24870000-24870200	Bivalent/Poised TSS	Fetal Brain Male	brain
9	chr3:24870000-24870200	Enhancers	Stomach Smooth Muscle	stomach
10	chr3:24870000-24870400	Bivalent Enhancer	Fetal Stomach	stomach
11	chr3:24870200-24870400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:24870200-24870400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:24870200-24870400	Bivalent Enhancer	Brain Germinal Matrix	brain
14	chr3:24870200-24870400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr3:24870200-24870400	Enhancers	Brain Substantia Nigra	brain
16	chr3:24870200-24870400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
17	chr3:24870200-24870400	Bivalent Enhancer	Esophagus	oesophagus
18	chr3:24870200-24870400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr3:24870200-24870400	Enhancers	Psoas Muscle	Psoas
20	chr3:24870200-24870400	Enhancers	Rectal Smooth Muscle	rectum
21	chr3:24870200-24870600	Bivalent Enhancer	Liver	Liver
22	chr3:24870200-24870600	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr3:24870200-24870600	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr3:24870200-24870600	Bivalent Enhancer	Fetal Brain Male	brain
25	chr3:24870200-24870800	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr3:24870200-24872200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:24870200-24872600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr3:24870200-24872600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr3:24870200-24872600	Active TSS	Brain Angular Gyrus	brain
30	chr3:24870200-24872800	Active TSS	Brain Anterior Caudate	brain
31	chr3:24870400-24870600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:24870400-24870600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:24870400-24870600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:24870400-24870600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
35	chr3:24870400-24870600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:24870400-24870600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
37	chr3:24870400-24870600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
38	chr3:24870400-24870600	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
39	chr3:24870400-24870600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
40	chr3:24870400-24870600	Flanking Active TSS	Fetal Lung	lung
41	chr3:24870400-24870600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr3:24870400-24870600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
43	chr3:24870400-24870600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
44	chr3:24870400-24870600	Enhancers	Gastric	stomach
45	chr3:24870400-24870600	Enhancers	Left Ventricle	heart
46	chr3:24870400-24870600	Enhancers	Pancreas	Pancrea
47	chr3:24870400-24870600	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr3:24870400-24870600	Enhancers	Right Ventricle	heart
49	chr3:24870400-24870600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
50	chr3:24870400-24870600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle

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