Variant report

Variant	esv7835
Chromosome Location	chr3:70013392-70014132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 34 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576078090	chr3:70013414-70013415	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140522520	chr3:70013415-70013416	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376752769	chr3:70013476-70013477	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561677056	chr3:70013484-70013485	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144245776	chr3:70013499-70013500	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186087927	chr3:70013521-70013522	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13072453	chr3:70013549-70013550	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560810625	chr3:70013562-70013563	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190896492	chr3:70013672-70013673	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145255028	chr3:70013718-70013719	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565861193	chr3:70013722-70013723	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528325699	chr3:70013726-70013727	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79145610	chr3:70013744-70013745	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569298368	chr3:70013805-70013806	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531719822	chr3:70013806-70013807	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548130346	chr3:70013809-70013810	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76843627	chr3:70013810-70013811	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571597493	chr3:70013898-70013899	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533971545	chr3:70013901-70013902	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547273017	chr3:70013914-70013915	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200731663	chr3:70013964-70013965	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371599077	chr3:70013971-70013972	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538450872	chr3:70013987-70013988	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs202242500	chr3:70013992-70013993	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148242520	chr3:70013998-70013999	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs137904015	chr3:70014000-70014001	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs104893747	chr3:70014031-70014032	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs199992377	chr3:70014040-70014041	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs369552358	chr3:70014047-70014048	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs201351378	chr3:70014077-70014078	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs149617956	chr3:70014091-70014092	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs2055006	chr3:70014098-70014099	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs375974443	chr3:70014114-70014115	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs187202662	chr3:70014130-70014131	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	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:70 , 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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