Variant report

Variant	esv2491017
Chromosome Location	chr3:70012673-70014394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:70013897..70016716-chr3:70049706..70051313,2	K562	blood:
2	chr3:70013471..70015718-chr3:70015918..70017994,2	K562	blood:
3	chr3:70009370..70011252-chr3:70011508..70014285,2	MCF-7	breast:
4	chr3:70012809..70015718-chr3:70015918..70017994,3	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112379503	chr3:70012744-70012745	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545879881	chr3:70012759-70012760	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562484242	chr3:70012765-70012766	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531321462	chr3:70012769-70012770	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541489303	chr3:70012776-70012777	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189988796	chr3:70012793-70012794	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530433464	chr3:70012795-70012796	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547177278	chr3:70012809-70012810	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34303713	chr3:70012816-70012817	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530799168	chr3:70012862-70012863	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567075148	chr3:70012877-70012878	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115242694	chr3:70012890-70012891	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150676027	chr3:70012910-70012911	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139964175	chr3:70012924-70012925	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376399565	chr3:70012927-70012928	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544216772	chr3:70012974-70012975	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569277543	chr3:70012983-70012984	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181460666	chr3:70012986-70012987	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184489709	chr3:70013027-70013028	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554557880	chr3:70013031-70013032	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374112674	chr3:70013109-70013110	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567972161	chr3:70013113-70013114	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150235369	chr3:70013116-70013117	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370028446	chr3:70013121-70013122	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533838881	chr3:70013126-70013127	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56921812	chr3:70013144-70013145	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188854825	chr3:70013158-70013159	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576959213	chr3:70013181-70013182	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530216297	chr3:70013182-70013183	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143952162	chr3:70013333-70013334	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200613716	chr3:70013344-70013345	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2874270	chr3:70013349-70013350	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs181180205	chr3:70013380-70013381	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576078090	chr3:70013414-70013415	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140522520	chr3:70013415-70013416	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376752769	chr3:70013476-70013477	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561677056	chr3:70013484-70013485	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144245776	chr3:70013499-70013500	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186087927	chr3:70013521-70013522	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13072453	chr3:70013549-70013550	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560810625	chr3:70013562-70013563	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190896492	chr3:70013672-70013673	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145255028	chr3:70013718-70013719	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565861193	chr3:70013722-70013723	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528325699	chr3:70013726-70013727	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79145610	chr3:70013744-70013745	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569298368	chr3:70013805-70013806	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531719822	chr3:70013806-70013807	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548130346	chr3:70013809-70013810	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76843627	chr3:70013810-70013811	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Malignant glioma	16001072	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69975800-70013800	Weak transcription	Psoas Muscle	Psoas
2	chr3:69978600-70014000	Weak transcription	Esophagus	oesophagus
3	chr3:69981800-70016800	Weak transcription	K562	blood
4	chr3:69990800-70015600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:69993600-70015600	Weak transcription	Colonic Mucosa	Colon
6	chr3:69994400-70016200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:69998000-70016000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:69998200-70017600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr3:69998400-70016000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr3:69998800-70014200	Weak transcription	A549	lung
11	chr3:70001600-70017200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:70003800-70016600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:70004600-70017000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:70005400-70017000	Weak transcription	Hela-S3	cervix
15	chr3:70006000-70017400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:70007200-70017400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:70007600-70015400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr3:70007600-70016200	Weak transcription	Spleen	Spleen
19	chr3:70009000-70016000	Weak transcription	Gastric	stomach
20	chr3:70009000-70021200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:70009200-70014000	Weak transcription	Lung	lung
22	chr3:70009200-70014000	Weak transcription	NHLF	lung
23	chr3:70009200-70015800	Weak transcription	Brain Angular Gyrus	brain
24	chr3:70009200-70015800	Weak transcription	HSMM	muscle
25	chr3:70009400-70015400	Weak transcription	Fetal Lung	lung
26	chr3:70009400-70015800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr3:70009600-70013800	Weak transcription	Fetal Stomach	stomach
28	chr3:70009600-70015800	Weak transcription	Brain Substantia Nigra	brain
29	chr3:70009600-70015800	Weak transcription	Right Ventricle	heart
30	chr3:70009600-70016000	Weak transcription	Aorta	Aorta
31	chr3:70009600-70018800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:70009800-70014000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:70009800-70015600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr3:70009800-70015800	Weak transcription	Stomach Mucosa	stomach
35	chr3:70009800-70017200	Weak transcription	Pancreas	Pancrea
36	chr3:70009800-70018800	Weak transcription	Colon Smooth Muscle	Colon
37	chr3:70010000-70013600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:70010000-70013800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:70010000-70016000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:70010000-70016600	Weak transcription	Brain Anterior Caudate	brain
41	chr3:70010200-70013600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr3:70010200-70013800	Weak transcription	Adipose Nuclei	Adipose
43	chr3:70010200-70013800	Weak transcription	Liver	Liver
44	chr3:70010200-70013800	Weak transcription	Ovary	ovary
45	chr3:70010200-70016000	Weak transcription	Fetal Muscle Leg	muscle
46	chr3:70010200-70021200	Weak transcription	HSMMtube	muscle
47	chr3:70010200-70022800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:70010200-70024000	Weak transcription	Fetal Kidney	kidney
49	chr3:70010400-70013800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr3:70011400-70014600	Strong transcription	Left Ventricle	heart

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