Variant report

Variant	nsv969258
Chromosome Location	chr5:108415652-108423281
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:108416839..108418861-chr5:108419923..108421863,2	MCF-7	breast:
2	chr5:108416839..108418861-chr5:108419923..108421863,2	MCF-7	breast:
3	chr15:70389785..70390556-chr5:108422890..108423870,2	MCF-7	breast:
4	chr15:70389819..70390406-chr5:108422870..108423390,2	HCT-116	colon:
5	chr5:108421631..108425653-chr5:108427345..108431594,4	K562	blood:

Variant related genes	Relation type
ENSG00000140332	chromatin interactions

Extended variants
information (count: 307 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114416476	chr5:108415678-108415679	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs537360778	chr5:108415698-108415699	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs35110240	chr5:108415732-108415733	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs142080853	chr5:108415768-108415769	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs545816515	chr5:108415769-108415770	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs183051084	chr5:108415799-108415800	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs79766585	chr5:108415801-108415802	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs187617432	chr5:108415826-108415827	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs561522072	chr5:108415880-108415881	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs534855481	chr5:108415916-108415917	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs540465631	chr5:108415920-108415921	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs369836905	chr5:108415969-108415970	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs192574274	chr5:108415970-108415971	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs539550340	chr5:108415988-108415989	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs62375528	chr5:108416021-108416022	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs574241029	chr5:108416043-108416044	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs568929018	chr5:108416045-108416046	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs373051948	chr5:108416153-108416154	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs182598002	chr5:108416180-108416181	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs548083109	chr5:108416194-108416195	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs376425062	chr5:108416204-108416205	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs541380076	chr5:108416222-108416223	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs186922235	chr5:108416237-108416238	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs562958035	chr5:108416242-108416243	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs554184373	chr5:108416246-108416247	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs201381220	chr5:108416320-108416321	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs553671106	chr5:108416439-108416440	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570553970	chr5:108416450-108416451	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539180841	chr5:108416463-108416464	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556259333	chr5:108416471-108416472	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12186683	chr5:108416475-108416476	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs541796879	chr5:108416488-108416489	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74395688	chr5:108416519-108416520	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112088248	chr5:108416567-108416568	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575020681	chr5:108416572-108416573	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369997890	chr5:108416574-108416575	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144043992	chr5:108416609-108416610	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs3842062	chr5:108416610-108416611	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540851574	chr5:108416627-108416628	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560544040	chr5:108416669-108416670	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555645717	chr5:108416742-108416743	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532707435	chr5:108416822-108416823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528667947	chr5:108416863-108416864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545905735	chr5:108416943-108416944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149752447	chr5:108416946-108416947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531642597	chr5:108416949-108416950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374377069	chr5:108416997-108416998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548169856	chr5:108417037-108417038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs28651452	chr5:108417106-108417107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77493505	chr5:108417120-108417121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
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
Retinoblastoma	22278416	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108360400-108425200	Weak transcription	Aorta	Aorta
2	chr5:108410400-108441200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:108413200-108416400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr5:108415000-108416800	Enhancers	Fetal Heart	heart
5	chr5:108415400-108416200	Enhancers	Fetal Intestine Small	intestine
6	chr5:108415400-108416400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:108415600-108416800	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr5:108415800-108416400	Enhancers	Duodenum Mucosa	Duodenum
9	chr5:108416200-108416600	Weak transcription	Fetal Intestine Small	intestine
10	chr5:108416200-108417000	Enhancers	HepG2	liver
11	chr5:108416400-108416600	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr5:108416400-108416800	Active TSS	Duodenum Mucosa	Duodenum
13	chr5:108416400-108416800	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr5:108416400-108441200	Weak transcription	HSMM	muscle
15	chr5:108416600-108416800	Enhancers	Fetal Intestine Small	intestine
16	chr5:108416600-108417200	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr5:108416800-108417000	Enhancers	Duodenum Mucosa	Duodenum
18	chr5:108416800-108425800	Weak transcription	Fetal Intestine Small	intestine
19	chr5:108417000-108419800	Weak transcription	HepG2	liver
20	chr5:108417200-108428400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:108417800-108418000	Enhancers	Gastric	stomach
22	chr5:108417800-108418000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr5:108418200-108426600	Weak transcription	Dnd41	blood
24	chr5:108418400-108427200	Weak transcription	Esophagus	oesophagus
25	chr5:108419400-108419600	Enhancers	Pancreas	Pancrea
26	chr5:108419600-108425600	Weak transcription	Pancreas	Pancrea
27	chr5:108421800-108422400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:108422000-108422600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:108422200-108422800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:108422200-108434400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:108422800-108426600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:108422800-108444800	Weak transcription	Left Ventricle	heart

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