Variant report

Variant	nsv980648
Chromosome Location	chr5:60631406-60633735
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60627030..60629541-chr5:60631486..60634956,3	MCF-7	breast:
2	chr5:60510067..60512878-chr5:60631211..60633924,2	K562	blood:
3	chr5:60616605..60619151-chr5:60628715..60631472,3	K562	blood:
4	chr5:60457454..60460257-chr5:60630674..60632720,2	K562	blood:
5	chr5:60454421..60471345-chr5:60622342..60633215,36	MCF-7	breast:
6	chr5:60456297..60461829-chr5:60626718..60632720,8	K562	blood:

Variant related genes	Relation type
ENSG00000130449	chromatin interactions
ENSG00000188725	chromatin interactions
ENSG00000251279	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185719026	chr5:60631440-60631441	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs112981865	chr5:60631442-60631443	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs572297886	chr5:60631490-60631491	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs540929555	chr5:60631512-60631513	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs561241326	chr5:60631520-60631521	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs192246336	chr5:60631523-60631524	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs543459023	chr5:60631535-60631536	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs184403690	chr5:60631543-60631544	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs575801020	chr5:60631552-60631553	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs189010477	chr5:60631630-60631631	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs113543689	chr5:60631650-60631651	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs112741647	chr5:60631655-60631656	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs552728011	chr5:60631657-60631658	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs552020812	chr5:60631687-60631688	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs559647719	chr5:60631688-60631689	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs181371164	chr5:60631701-60631702	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs147706220	chr5:60631755-60631756	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs543189190	chr5:60631832-60631833	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs142426525	chr5:60631839-60631840	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs111341698	chr5:60631911-60631912	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs561578821	chr5:60631916-60631917	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs142290034	chr5:60631926-60631927	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs370377559	chr5:60631945-60631946	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs534640339	chr5:60631966-60631967	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs570611418	chr5:60632014-60632015	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs539587523	chr5:60632015-60632016	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs553441762	chr5:60632030-60632031	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs572099194	chr5:60632045-60632046	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs189626115	chr5:60632048-60632049	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs534840897	chr5:60632114-60632115	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs554534940	chr5:60632120-60632121	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs574812287	chr5:60632145-60632146	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs6893130	chr5:60632150-60632151	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs114530361	chr5:60632156-60632157	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs201812515	chr5:60632207-60632208	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs377710031	chr5:60632216-60632217	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs576916510	chr5:60632218-60632219	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs560499716	chr5:60632285-60632286	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs371382714	chr5:60632306-60632307	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs180727255	chr5:60632309-60632310	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs76531232	chr5:60632316-60632317	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs74505559	chr5:60632317-60632318	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs79761814	chr5:60632318-60632319	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs559418151	chr5:60632325-60632326	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs112067821	chr5:60632365-60632366	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs548795779	chr5:60632371-60632372	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs527703501	chr5:60632392-60632393	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs59299298	chr5:60632401-60632402	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs552808303	chr5:60632495-60632496	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs374874649	chr5:60632504-60632505	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Non-small cell lung cancer	21829676	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
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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	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
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60626000-60631600	Active TSS	NHLF	lung
2	chr5:60629600-60632200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:60630000-60631600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:60630000-60631600	Flanking Active TSS	HUVEC	blood vessel
5	chr5:60630000-60631600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr5:60630200-60631600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:60630200-60636400	Weak transcription	Gastric	stomach
8	chr5:60630400-60631600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:60630400-60632000	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr5:60630600-60632000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:60630600-60632200	Weak transcription	Primary T cells from cord blood	blood
12	chr5:60630800-60632000	Enhancers	Pancreas	Pancrea
13	chr5:60630800-60632200	Active TSS	Fetal Brain Female	brain
14	chr5:60630800-60640000	Weak transcription	Aorta	Aorta
15	chr5:60631000-60631600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:60631000-60631600	Enhancers	Liver	Liver
17	chr5:60631000-60631600	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr5:60631000-60631600	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr5:60631000-60631800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:60631000-60632200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:60631000-60637000	Weak transcription	Esophagus	oesophagus
22	chr5:60631000-60644000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:60631200-60631600	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr5:60631200-60631800	Weak transcription	Left Ventricle	heart
25	chr5:60631200-60632000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:60631200-60632000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr5:60631200-60632000	Active TSS	HSMM	muscle
28	chr5:60631200-60632400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:60631200-60634400	Weak transcription	Stomach Mucosa	stomach
30	chr5:60631200-60635000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr5:60631200-60635000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr5:60631400-60631600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:60631400-60631600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr5:60631400-60631600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:60631400-60631600	Enhancers	Colon Smooth Muscle	Colon
36	chr5:60631400-60631600	Active TSS	Duodenum Mucosa	Duodenum
37	chr5:60631400-60631600	Enhancers	Fetal Heart	heart
38	chr5:60631400-60631600	Active TSS	A549	lung
39	chr5:60631400-60631600	Enhancers	Hela-S3	cervix
40	chr5:60631400-60631600	Enhancers	Osteobl	bone
41	chr5:60631400-60631800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:60631400-60631800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:60631400-60631800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:60631400-60632000	Genic enhancers	Muscle Satellite Cultured Cells	--
45	chr5:60631400-60632000	Weak transcription	Fetal Intestine Small	intestine
46	chr5:60631400-60632000	Enhancers	Fetal Kidney	kidney
47	chr5:60631400-60632000	Enhancers	Ovary	ovary
48	chr5:60631400-60632000	Enhancers	Right Atrium	heart
49	chr5:60631400-60632000	Enhancers	Stomach Smooth Muscle	stomach
50	chr5:60631400-60632200	Enhancers	Cortex derived primary cultured neurospheres	brain

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