Variant report

Variant	nsv1061862
Chromosome Location	chr19:43925290-43954915
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:43928435..43931381-chr19:43932773..43935782,3	K562	blood:
2	chr19:43950949..43953195-chr19:44029676..44031859,2	MCF-7	breast:
3	chr19:43937158..43937719-chr19:44059063..44059904,2	K562	blood:
4	chr19:43820685..43821690-chr19:43929045..43930443,5	MCF-7	breast:
5	chr19:43947823..43950572-chr19:43967998..43969717,2	MCF-7	breast:
6	chr19:43950829..43952315-chr19:44023277..44024591,13	MCF-7	breast:
7	chr19:43949660..43952729-chr19:43966089..43969502,3	K562	blood:
8	chr19:43942702..43944453-chr19:44007455..44009598,2	MCF-7	breast:
9	chr19:43950879..43951915-chr19:44023292..44024529,15	K562	blood:
10	chr19:43936721..43937673-chr19:43951109..43951816,2	MCF-7	breast:
11	chr19:43928435..43931381-chr19:43932773..43935782,3	K562	blood:
12	chr19:43949852..43952277-chr19:44156357..44158096,2	K562	blood:
13	chr19:43936775..43937531-chr19:44023386..44024282,4	MCF-7	breast:
14	chr19:43951229..43953633-chr19:43981664..43984219,2	MCF-7	breast:
15	chr19:43937028..43937653-chr19:43950851..43951764,3	MCF-7	breast:
16	chr19:43936817..43937670-chr19:44023393..44024322,3	K562	blood:
17	chr19:43937678..43940228-chr19:44019604..44022571,2	MCF-7	breast:
18	chr19:43950463..43951811-chr19:44023286..44024411,8	MCF-7	breast:
19	chr19:43937119..43937651-chr19:44098505..44099433,2	MCF-7	breast:
20	chr19:43950972..43953195-chr19:43955258..43957293,2	MCF-7	breast:
21	chr19:43937232..43939100-chr19:44037778..44039902,2	MCF-7	breast:
22	chr19:43809862..43810443-chr19:43929397..43930009,2	MCF-7	breast:
23	chr19:43942729..43944786-chr19:43970636..43972210,2	MCF-7	breast:
24	chr19:43821071..43821590-chr19:43929652..43930334,2	MCF-7	breast:
25	chr19:43928535..43930747-chr19:43966422..43969412,2	MCF-7	breast:
26	chr19:43942400..43947044-chr19:43967250..43970389,5	MCF-7	breast:
27	chr19:43937028..43937653-chr19:43950851..43951764,3	MCF-7	breast:
28	chr19:43936721..43937673-chr19:43951109..43951816,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105755	chromatin interactions
ENSG00000176531	chromatin interactions
ENSG00000124466	chromatin interactions

Extended variants
information (count: 1248 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1248 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535051807	chr19:43925319-43925320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554995279	chr19:43925344-43925345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189959019	chr19:43925424-43925425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182618070	chr19:43925438-43925439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573251755	chr19:43925439-43925440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577335311	chr19:43925441-43925442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545113274	chr19:43925465-43925466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564668321	chr19:43925529-43925530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143641821	chr19:43925534-43925535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373893856	chr19:43925571-43925572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187235235	chr19:43925594-43925595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs36074766	chr19:43925701-43925702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386389060	chr19:43925724-43925725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71169236	chr19:43925725-43925726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12610243	chr19:43925739-43925740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530007365	chr19:43925845-43925846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540632798	chr19:43925855-43925856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559759800	chr19:43925872-43925873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117853061	chr19:43925894-43925895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532234613	chr19:43925980-43925981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552332144	chr19:43925985-43925986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566218010	chr19:43925987-43925988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75745949	chr19:43925988-43925989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150695703	chr19:43926047-43926048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563941135	chr19:43926061-43926062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192045146	chr19:43926062-43926063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185188316	chr19:43926165-43926166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78894469	chr19:43926186-43926187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs578117362	chr19:43926242-43926243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539682198	chr19:43926247-43926248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553143756	chr19:43926267-43926268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs8106851	chr19:43926332-43926333	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs368933107	chr19:43926345-43926346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142941777	chr19:43926346-43926347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200371657	chr19:43926349-43926350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149739278	chr19:43926357-43926358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376827976	chr19:43926368-43926369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540682642	chr19:43926372-43926373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149456609	chr19:43926375-43926376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs202233528	chr19:43926379-43926380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200457649	chr19:43926381-43926382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148647694	chr19:43926392-43926393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574322663	chr19:43926399-43926400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188897873	chr19:43926473-43926474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563468255	chr19:43926517-43926518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532425893	chr19:43926535-43926536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551625088	chr19:43926551-43926552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147150771	chr19:43926572-43926573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs193087439	chr19:43926594-43926595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528607133	chr19:43926641-43926642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21509527	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43919000-43937400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:43920200-43930000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:43921800-43929200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr19:43924000-43925400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr19:43925000-43925800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr19:43925000-43930000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:43925200-43925800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr19:43925400-43925800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:43925800-43926000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr19:43925800-43926000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr19:43925800-43926600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr19:43926000-43930000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:43926400-43926800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:43926400-43926800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:43926800-43929400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:43926800-43929800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:43929200-43930000	Enhancers	Hela-S3	cervix
18	chr19:43929200-43931000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr19:43929200-43932000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr19:43929200-43932600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr19:43929400-43929800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:43929400-43929800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr19:43929400-43930000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:43929400-43930200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr19:43929400-43931200	Enhancers	Duodenum Mucosa	Duodenum
26	chr19:43929400-43931400	Enhancers	Stomach Mucosa	stomach
27	chr19:43929600-43929800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr19:43929600-43930000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr19:43929600-43930200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr19:43929600-43930200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:43929600-43930400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:43929600-43930400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:43929800-43930200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr19:43929800-43930200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr19:43929800-43930200	Enhancers	Stomach Smooth Muscle	stomach
36	chr19:43929800-43930400	Enhancers	Primary B cells from peripheral blood	blood
37	chr19:43929800-43930400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:43929800-43930600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:43930000-43930400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr19:43930000-43930400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr19:43930000-43930400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr19:43930000-43930400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr19:43930000-43930400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr19:43930000-43930400	Enhancers	A549	lung
45	chr19:43930000-43930400	Enhancers	HMEC	breast
46	chr19:43930000-43930400	Enhancers	NH-A	brain
47	chr19:43930000-43930600	Enhancers	Brain Germinal Matrix	brain
48	chr19:43930000-43930600	Flanking Active TSS	Hela-S3	cervix
49	chr19:43930000-43930600	Enhancers	NHEK	skin
50	chr19:43930000-43930800	Enhancers	Small Intestine	intestine

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