Variant report

Variant	esv3365583
Chromosome Location	chr3:93611762-93614760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:93614459..93614996-chr5:160095807..160096625,2	MCF-7	breast:

Extended variants
information (count: 87 )
Associated
traits (count: 53 )

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	rs199469494	chr3:93611772-93611773	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548576399	chr3:93611773-93611774	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199469492	chr3:93611777-93611778	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs312262905	chr3:93611785-93611786	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138227513	chr3:93611825-93611826	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199469491	chr3:93611837-93611838	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs387906674	chr3:93611869-93611870	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199797185	chr3:93611876-93611877	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559926905	chr3:93611882-93611883	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375245889	chr3:93611888-93611889	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376656035	chr3:93611891-93611892	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1130107	chr3:93611899-93611900	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78449232	chr3:93611900-93611901	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189883848	chr3:93611911-93611912	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374634410	chr3:93611912-93611913	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200771229	chr3:93611923-93611924	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141208672	chr3:93611924-93611925	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201547678	chr3:93611927-93611928	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549405539	chr3:93611943-93611944	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536077692	chr3:93611944-93611945	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199469490	chr3:93611983-93611984	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569305617	chr3:93611999-93612000	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199469493	chr3:93612030-93612031	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528982050	chr3:93612153-93612154	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375071761	chr3:93612165-93612166	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565731941	chr3:93612213-93612214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs8178641	chr3:93612369-93612370	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs557884837	chr3:93612373-93612374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372352077	chr3:93612419-93612420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575973492	chr3:93612446-93612447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182201015	chr3:93612455-93612456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537334577	chr3:93612610-93612611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187873894	chr3:93612719-93612720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190835763	chr3:93612723-93612724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183706886	chr3:93612748-93612749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536947046	chr3:93612756-93612757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188748283	chr3:93612878-93612879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573260712	chr3:93612916-93612917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545278148	chr3:93612920-93612921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558558935	chr3:93612978-93612979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565437970	chr3:93613014-93613015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531154317	chr3:93613015-93613016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576814616	chr3:93613050-93613051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs8178640	chr3:93613094-93613095	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs562976297	chr3:93613110-93613111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528870673	chr3:93613131-93613132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548934745	chr3:93613135-93613136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs8178664	chr3:93613178-93613179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192810725	chr3:93613200-93613201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138048429	chr3:93613286-93613287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:93591000-93614200	Strong transcription	Liver	Liver
2	chr3:93594600-93632800	Weak transcription	HepG2	liver
3	chr3:93597400-93612400	Weak transcription	HSMMtube	muscle
4	chr3:93597400-93629200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:93597800-93628800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:93601200-93613200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:93601800-93625200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:93601800-93627200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr3:93607800-93611800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:93609000-93625400	Weak transcription	Fetal Stomach	stomach
11	chr3:93609400-93614800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:93609600-93612000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:93610200-93612000	Strong transcription	Ovary	ovary
14	chr3:93610400-93636600	Weak transcription	Right Ventricle	heart
15	chr3:93610600-93612000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:93610600-93612000	Strong transcription	Lung	lung
17	chr3:93611200-93625800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:93611200-93650400	Weak transcription	Left Ventricle	heart
19	chr3:93611400-93625200	Weak transcription	Fetal Intestine Large	intestine
20	chr3:93611400-93625400	Weak transcription	Aorta	Aorta
21	chr3:93611600-93625200	Weak transcription	Fetal Intestine Small	intestine
22	chr3:93611800-93612200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:93612000-93625400	Weak transcription	Lung	lung
24	chr3:93612000-93625800	Weak transcription	Ovary	ovary
25	chr3:93612000-93626400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:93612000-93627800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:93612200-93618400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:93614200-93615600	Weak transcription	Liver	Liver

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