Variant report

Variant	esv1833699
Chromosome Location	chr5:119233362-119304651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:185990403..185991343-chr5:119236365..119236898,2	MCF-7	breast:
2	chr5:119278619..119279545-chr5:119793318..119794660,3	MCF-7	breast:
3	chr5:119278671..119279490-chr5:119662851..119663369,2	MCF-7	breast:

Extended variants
information (count: 495 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:495 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4272156	chr5:119233362-119233363	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574860702	chr5:119233377-119233378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144170167	chr5:119233400-119233401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147775158	chr5:119233433-119233434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370833878	chr5:119233469-119233470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189725854	chr5:119233489-119233490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559656322	chr5:119233564-119233565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148839474	chr5:119233599-119233600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200504310	chr5:119233611-119233612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183374475	chr5:119233619-119233620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548150322	chr5:119233629-119233630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551335782	chr5:119233647-119233648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187714700	chr5:119233652-119233653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530628692	chr5:119233682-119233683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115604604	chr5:119233688-119233689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142564399	chr5:119233692-119233693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368236285	chr5:119233805-119233806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371984801	chr5:119233815-119233816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183623687	chr5:119233838-119233839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529831103	chr5:119233853-119233854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571472973	chr5:119233883-119233884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534060658	chr5:119233936-119233937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547853384	chr5:119233954-119233955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566012509	chr5:119233989-119233990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534731735	chr5:119233991-119233992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569606664	chr5:119234044-119234045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554945809	chr5:119234049-119234050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs151299374	chr5:119234065-119234066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs28703212	chr5:119234088-119234089	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188572533	chr5:119234160-119234161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2974038	chr5:119234237-119234238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545997189	chr5:119234296-119234297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550021110	chr5:119234299-119234300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550028604	chr5:119234307-119234308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4351178	chr5:119234316-119234317	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs528382729	chr5:119234341-119234342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567361137	chr5:119249091-119249092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530025850	chr5:119249126-119249127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs57076250	chr5:119249155-119249156	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs192452296	chr5:119249209-119249210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538548091	chr5:119249221-119249222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376660711	chr5:119249238-119249239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115557915	chr5:119249254-119249255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs57368749	chr5:119249259-119249260	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs540220748	chr5:119249296-119249297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553891986	chr5:119249423-119249424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146517235	chr5:119249473-119249474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374355005	chr5:119249477-119249478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs80215544	chr5:119249482-119249483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2973985	chr5:119249490-119249491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119232400-119233600	Enhancers	Rectal Mucosa Donor 29	rectum
2	chr5:119232800-119233800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr5:119233000-119233800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:119233800-119234400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:119249000-119249400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:119249400-119249800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:119249400-119250000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:119249600-119250000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:119264600-119264800	Active TSS	Gastric	stomach
10	chr5:119264800-119265000	Enhancers	Aorta	Aorta
11	chr5:119264800-119266400	Weak transcription	Gastric	stomach
12	chr5:119283800-119284200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:119284200-119285200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:119284400-119285200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:119284800-119285200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:119284800-119285800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:119284800-119286000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:119284800-119286400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:119285000-119285400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:119285000-119285400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:119285200-119285600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr5:119285200-119285600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:119285200-119286800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:119285400-119285600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:119285400-119285600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr5:119285400-119285600	Active TSS	Aorta	Aorta
27	chr5:119285400-119285800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:119285400-119285800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:119285400-119285800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:119285600-119285800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr5:119285600-119287000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:119285600-119287000	Weak transcription	Aorta	Aorta
33	chr5:119285600-119287200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:119285800-119286000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:119285800-119286000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr5:119285800-119287000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:119285800-119287000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr5:119285800-119287000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:119285800-119287200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:119286000-119287000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:119286000-119287000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:119286000-119287000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:119286400-119286800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:119286800-119287400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr5:119286800-119287800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr5:119286800-119288000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:119287000-119287800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr5:119287000-119287800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr5:119287000-119287800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr5:119287000-119287800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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