Variant report

Variant	esv2763281
Chromosome Location	chr3:79246361-79489765
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:14)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:79135076..79136114-chr3:79410411..79411762,9	MCF-7	breast:
2	chr3:79422629..79425100-chr3:79426205..79428873,2	K562	blood:
3	chr3:79135060..79137431-chr3:79411322..79412881,2	MCF-7	breast:
4	chr3:79399794..79402189-chr3:79403043..79405665,2	MCF-7	breast:
5	chr3:79418426..79419041-chr3:79546252..79547206,2	MCF-7	breast:
6	chr3:79331170..79333643-chr3:79335436..79337673,2	K562	blood:
7	chr3:79422629..79425100-chr3:79426205..79428873,2	K562	blood:
8	chr3:79135544..79136046-chr3:79418260..79418912,2	MCF-7	breast:
9	chr3:79081752..79082476-chr3:79410956..79411574,2	MCF-7	breast:
10	chr3:79410891..79411542-chr3:79546444..79547075,2	MCF-7	breast:
11	chr3:79135269..79136279-chr3:79410679..79411261,3	MCF-7	breast:
12	chr3:79331170..79333643-chr3:79335436..79337673,2	K562	blood:
13	chr3:79399794..79402189-chr3:79403043..79405665,2	MCF-7	breast:
14	chr3:79410937..79411589-chr3:79546341..79547194,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ROBO2-11	chr3:79482560-79484377	NR_110133
2	lnc-ROBO2-11	chr3:79477758-79477885	NR_110133
3	lnc-ROBO2-11	chr3:79460877-79461184	NR_110133

No data

Extended variants
information (count: 5665 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:5665 , 50 per page) page: 1 2 3 4 5 6 7 ... 114

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546822740	chr3:79246384-79246385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs150055577	chr3:79246385-79246386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs534547987	chr3:79246390-79246391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs182504847	chr3:79246393-79246394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs187192169	chr3:79246485-79246486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs144407662	chr3:79246517-79246518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs557005686	chr3:79246554-79246555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs576960257	chr3:79246580-79246581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs539398246	chr3:79246596-79246597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs554161037	chr3:79248435-79248436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138628988	chr3:79248465-79248466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77770813	chr3:79248467-79248468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562985970	chr3:79248475-79248476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556699321	chr3:79248509-79248510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77101856	chr3:79248546-79248547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79340870	chr3:79248566-79248567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564264898	chr3:79248581-79248582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532970986	chr3:79248600-79248601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs80048647	chr3:79248616-79248617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193194296	chr3:79248624-79248625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376368456	chr3:79248641-79248642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528894112	chr3:79248663-79248664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140407310	chr3:79248665-79248666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568634774	chr3:79248727-79248728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113303436	chr3:79248754-79248755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531999276	chr3:79248755-79248756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs386662787	chr3:79248795-79248796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76358795	chr3:79248796-79248797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571851867	chr3:79248821-79248822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9845808	chr3:79248828-79248829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs200716077	chr3:79248884-79248885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570783820	chr3:79248916-79248917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144943886	chr3:79248944-79248945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80010400	chr3:79248961-79248962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556549018	chr3:79248966-79248967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576617501	chr3:79248967-79248968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545522226	chr3:79248986-79248987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547918644	chr3:79249012-79249013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184156722	chr3:79249017-79249018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577793724	chr3:79249062-79249063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374371755	chr3:79249089-79249090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188486600	chr3:79249097-79249098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529126202	chr3:79249110-79249111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181304437	chr3:79249137-79249138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562104725	chr3:79249163-79249164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531199184	chr3:79249169-79249170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551501414	chr3:79249290-79249291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34804112	chr3:79249311-79249312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546612352	chr3:79249417-79249418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566579274	chr3:79249477-79249478	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:666 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:79246200-79246600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:79248400-79250200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:79248600-79249800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:79248600-79250000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr3:79248600-79251800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:79248600-79251800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:79248800-79250000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:79248800-79250000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:79248800-79250000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:79248800-79251800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:79249000-79250800	Enhancers	Rectal Smooth Muscle	rectum
12	chr3:79249200-79249800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr3:79249200-79249800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr3:79249200-79250000	Enhancers	Colon Smooth Muscle	Colon
15	chr3:79249200-79250200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:79249200-79252600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:79249600-79249800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr3:79249600-79250000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:79249800-79251200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr3:79249800-79252000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:79250000-79251400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:79250000-79251400	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:79250000-79251600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:79250000-79252000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr3:79250200-79251200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:79250200-79252000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:79251200-79251400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr3:79251200-79251800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr3:79251400-79251800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr3:79251400-79252200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr3:79251600-79253000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr3:79251800-79252000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr3:79251800-79252000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr3:79251800-79252000	Enhancers	Colon Smooth Muscle	Colon
35	chr3:79251800-79252600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr3:79251800-79252800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr3:79251800-79253000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr3:79251800-79253200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:79252000-79252200	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr3:79252000-79252200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr3:79252000-79252200	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr3:79252000-79252400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:79252000-79252800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:79252200-79252400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr3:79252200-79252400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr3:79252200-79252600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr3:79252200-79252600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr3:79252200-79252600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:79252400-79252600	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr3:79252400-79252800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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