Variant report

Variant	esv2435100
Chromosome Location	chr5:68723127-68724813
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	chr5:68724609..68726158-chr5:68789945..68791911,2	MCF-7	breast:
2	chr5:68720210..68723027-chr5:68724796..68726675,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529859205	chr5:68723145-68723146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565350361	chr5:68723158-68723159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180852459	chr5:68723201-68723202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374329548	chr5:68723209-68723210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374600109	chr5:68723210-68723211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111588094	chr5:68723216-68723217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550909709	chr5:68723340-68723341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554218938	chr5:68723349-68723350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569617355	chr5:68723423-68723424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530711629	chr5:68723443-68723444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541943821	chr5:68723503-68723504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570335855	chr5:68723535-68723536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560193088	chr5:68723566-68723567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375373673	chr5:68723567-68723568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375281233	chr5:68723572-68723573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369432939	chr5:68723605-68723606	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144426646	chr5:68723657-68723658	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373247862	chr5:68723670-68723671	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571289159	chr5:68723684-68723685	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538266074	chr5:68723715-68723716	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186246852	chr5:68723775-68723776	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575664350	chr5:68723832-68723833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576056504	chr5:68723893-68723894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377284691	chr5:68723907-68723908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202210075	chr5:68723938-68723939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543324913	chr5:68723983-68723984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555226591	chr5:68723984-68723985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573496849	chr5:68723995-68723996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs67763488	chr5:68724009-68724010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540784312	chr5:68724017-68724018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546994457	chr5:68724019-68724020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577220861	chr5:68724078-68724079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544326789	chr5:68724111-68724112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562533859	chr5:68724112-68724113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191052661	chr5:68724150-68724151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146443316	chr5:68724162-68724163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370015523	chr5:68724187-68724188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548845503	chr5:68724235-68724236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181680489	chr5:68724439-68724440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528293038	chr5:68724440-68724441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372799927	chr5:68724494-68724495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140910673	chr5:68724619-68724620	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571261434	chr5:68724758-68724759	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571880440	chr5:68724767-68724768	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538726692	chr5:68724800-68724801	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68711600-68724000	Weak transcription	Right Atrium	heart
2	chr5:68711800-68723600	Weak transcription	Small Intestine	intestine
3	chr5:68711800-68725000	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:68711800-68731000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:68712400-68731000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:68712400-68735600	Weak transcription	Hela-S3	cervix
7	chr5:68712400-68739000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:68712400-68740400	Weak transcription	Fetal Kidney	kidney
9	chr5:68712800-68738200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:68714400-68723800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:68716000-68728800	Weak transcription	Lung	lung
12	chr5:68716000-68732200	Weak transcription	Esophagus	oesophagus
13	chr5:68716000-68733600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:68716000-68735800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:68716000-68738200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:68716000-68738800	Weak transcription	Fetal Stomach	stomach
17	chr5:68716200-68724800	Weak transcription	Stomach Mucosa	stomach
18	chr5:68716200-68728200	Weak transcription	Liver	Liver
19	chr5:68716200-68728400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:68716200-68728400	Weak transcription	Placenta	Placenta
21	chr5:68716200-68738000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:68716400-68728200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:68716400-68728400	Weak transcription	HMEC	breast
24	chr5:68716400-68729000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:68716400-68729800	Weak transcription	NHEK	skin
26	chr5:68716400-68742000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:68716600-68728400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:68716600-68729800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr5:68716800-68727400	Weak transcription	HepG2	liver
30	chr5:68716800-68728400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr5:68717400-68728200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:68719000-68728400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:68719200-68724600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:68719200-68727400	Weak transcription	Pancreas	Pancrea
35	chr5:68719200-68728400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:68719200-68728400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:68719200-68733000	Strong transcription	Fetal Intestine Small	intestine
38	chr5:68719400-68729800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:68719400-68731800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:68719400-68733600	Weak transcription	Gastric	stomach
41	chr5:68720400-68727400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr5:68720800-68724400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:68720800-68724600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:68720800-68728200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:68720800-68728400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr5:68722800-68723600	Strong transcription	Fetal Intestine Large	intestine
47	chr5:68723600-68723800	Enhancers	GM12878-XiMat	blood
48	chr5:68723600-68727600	Weak transcription	Fetal Intestine Large	intestine
49	chr5:68723800-68724600	Weak transcription	GM12878-XiMat	blood
50	chr5:68723800-68727400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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