Variant report

Variant	nsv965536
Chromosome Location	chr5:154155200-154163441
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:154155236..154157840-chr5:154218414..154220638,2	K562	blood:
2	chr5:154154220..154157426-chr5:154161456..154164339,3	MCF-7	breast:
3	chr5:154154220..154157426-chr5:154161456..154164339,3	MCF-7	breast:
4	chr5:154135063..154138225-chr5:154157391..154160359,3	MCF-7	breast:
5	chr5:154132476..154143251-chr5:154145354..154162500,38	MCF-7	breast:
6	chr5:154158515..154161284-chr5:154235913..154238462,2	K562	blood:
7	chr1:152014558..152016795-chr5:154161907..154163941,2	MCF-7	breast:
8	chr5:154151385..154153346-chr5:154159128..154160723,2	MCF-7	breast:
9	chr5:154135295..154138136-chr5:154163169..154165324,3	MCF-7	breast:
10	chr5:154032750..154034923-chr5:154157447..154159549,2	K562	blood:
11	chr5:154153749..154156019-chr5:154157510..154160380,3	MCF-7	breast:
12	chr5:154134948..154137800-chr5:154152805..154155908,3	MCF-7	breast:
13	chr5:154163381..154166073-chr5:154170171..154172796,2	MCF-7	breast:
14	chr5:154158451..154160663-chr5:154164358..154166909,3	MCF-7	breast:
15	chr5:154160953..154164560-chr5:154213989..154217454,3	K562	blood:
16	chr5:154153749..154156019-chr5:154157510..154160380,3	MCF-7	breast:
17	chr5:154163355..154165519-chr5:154191104..154193464,2	MCF-7	breast:
18	chr5:154069246..154072134-chr5:154161988..154164384,2	K562	blood:
19	chr5:154161718..154166122-chr5:154172267..154174755,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155508	chromatin interactions
ENSG00000170271	chromatin interactions
ENSG00000155506	chromatin interactions

Extended variants
information (count: 298 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544866705	chr5:154155216-154155217	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138658333	chr5:154155234-154155235	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573546829	chr5:154155237-154155238	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs141882788	chr5:154155242-154155243	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs4406184	chr5:154155257-154155258	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558977390	chr5:154155301-154155302	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528281503	chr5:154155367-154155368	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544845731	chr5:154155379-154155380	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576982438	chr5:154155444-154155445	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183199264	chr5:154155512-154155513	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs550814819	chr5:154155517-154155518	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561144961	chr5:154155545-154155546	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs530054579	chr5:154155566-154155567	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544404959	chr5:154155591-154155592	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115390722	chr5:154155627-154155628	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs567009781	chr5:154155642-154155643	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539131357	chr5:154155683-154155684	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs552831859	chr5:154155724-154155725	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs146279705	chr5:154155781-154155782	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112080211	chr5:154155800-154155801	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs541801688	chr5:154155810-154155811	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs139375759	chr5:154155812-154155813	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573559717	chr5:154155828-154155829	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7715619	chr5:154155829-154155830	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7733953	chr5:154155876-154155877	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs370974271	chr5:154155909-154155910	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs115762330	chr5:154155936-154155937	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs565358893	chr5:154155958-154155959	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs564775951	chr5:154156072-154156073	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs373127210	chr5:154156103-154156104	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557243465	chr5:154156117-154156118	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs544179696	chr5:154156163-154156164	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs561193184	chr5:154156167-154156168	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs114985601	chr5:154156254-154156255	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs537903466	chr5:154156334-154156335	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs377698988	chr5:154156343-154156344	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191958307	chr5:154156379-154156380	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs376320423	chr5:154156383-154156384	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575065872	chr5:154156413-154156414	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542190479	chr5:154156441-154156442	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs116073848	chr5:154156473-154156474	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs552668655	chr5:154156496-154156497	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs183238013	chr5:154156532-154156533	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs538389190	chr5:154156542-154156543	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs74441298	chr5:154156544-154156545	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs34705624	chr5:154156554-154156555	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574204448	chr5:154156567-154156568	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548612488	chr5:154156616-154156617	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs527701633	chr5:154156620-154156621	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs568777345	chr5:154156629-154156630	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Epilepsy	20502679	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:638 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154138200-154156000	Enhancers	Primary T cells fromperipheralblood	blood
2	chr5:154144600-154157200	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr5:154147400-154161800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:154148200-154155800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:154148400-154155400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:154148400-154156000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:154150200-154159400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr5:154151200-154156000	Weak transcription	Fetal Intestine Large	intestine
9	chr5:154151200-154156800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:154151200-154162200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:154151200-154162800	Weak transcription	Primary B cells from cord blood	blood
12	chr5:154151400-154156000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:154151400-154157800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:154151400-154158000	Weak transcription	HMEC	breast
15	chr5:154151400-154159400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:154151400-154159600	Weak transcription	Thymus	Thymus
17	chr5:154151400-154161600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr5:154151600-154155600	Weak transcription	HSMM	muscle
19	chr5:154151600-154156200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr5:154151600-154158000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr5:154151600-154158200	Weak transcription	HUVEC	blood vessel
22	chr5:154151600-154161400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:154151600-154161800	Weak transcription	Fetal Lung	lung
24	chr5:154151600-154162200	Weak transcription	Fetal Brain Female	brain
25	chr5:154151600-154163000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:154151600-154163400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr5:154151600-154171200	Weak transcription	Fetal Brain Male	brain
28	chr5:154151800-154158000	Weak transcription	NHLF	lung
29	chr5:154151800-154158000	Weak transcription	Osteobl	bone
30	chr5:154151800-154161800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:154152200-154155800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr5:154152200-154155800	Weak transcription	NHDF-Ad	bronchial
33	chr5:154152400-154156800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:154152400-154156800	Genic enhancers	K562	blood
35	chr5:154152600-154155600	Enhancers	Primary B cells from peripheral blood	blood
36	chr5:154152600-154155800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr5:154152600-154156000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr5:154152600-154156000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:154152600-154156000	Enhancers	Brain Anterior Caudate	brain
40	chr5:154152600-154156400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:154152600-154156400	Enhancers	Ovary	ovary
42	chr5:154152600-154156600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr5:154152600-154156800	Enhancers	Fetal Heart	heart
44	chr5:154152600-154156800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr5:154152600-154157000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:154152600-154168200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr5:154152600-154168400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr5:154152800-154155200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr5:154152800-154155200	Enhancers	Stomach Smooth Muscle	stomach
50	chr5:154152800-154155400	Enhancers	Brain Angular Gyrus	brain

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