Variant report

Variant	nsv978784
Chromosome Location	chr19:19547867-19549578
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19546997..19549411-chr19:19573400..19576327,2	K562	blood:
2	chr19:19497354..19499230-chr19:19547808..19549334,2	K562	blood:
3	chr19:19523469..19525649-chr19:19548128..19551006,2	K562	blood:
4	chr19:19543861..19547049-chr19:19547562..19550804,4	MCF-7	breast:
5	chr19:19534345..19537277-chr19:19547250..19548904,2	K562	blood:
6	chr19:19488930..19490587-chr19:19548846..19551529,2	K562	blood:

Variant related genes	Relation type
ENSG00000207821	chromatin interactions
ENSG00000167491	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575314743	chr19:19547912-19547913	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs369618652	chr19:19547914-19547915	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs550359169	chr19:19547926-19547927	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs570525368	chr19:19547956-19547957	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs145782748	chr19:19547966-19547967	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs546561269	chr19:19547979-19547980	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs138438318	chr19:19547992-19547993	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs540554529	chr19:19548040-19548041	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs372804421	chr19:19548052-19548053	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs142832908	chr19:19548131-19548132	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs181305666	chr19:19548176-19548177	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs575056515	chr19:19548229-19548230	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs186148114	chr19:19548236-19548237	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs34647936	chr19:19548239-19548240	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs2965182	chr19:19548246-19548247	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549953282	chr19:19548248-19548249	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs145063688	chr19:19548270-19548271	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559754678	chr19:19548289-19548290	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs544426320	chr19:19548297-19548298	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs573594488	chr19:19548329-19548330	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs563493929	chr19:19548370-19548371	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs188269286	chr19:19548384-19548385	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs148286564	chr19:19548428-19548429	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs533059886	chr19:19548456-19548457	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs531059363	chr19:19548510-19548511	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs141412314	chr19:19548511-19548512	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs564060808	chr19:19548526-19548527	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs533025126	chr19:19548597-19548598	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs546213852	chr19:19548621-19548622	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs182401343	chr19:19548625-19548626	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs535372691	chr19:19548627-19548628	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs187820659	chr19:19548640-19548641	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs79954596	chr19:19548643-19548644	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs537677313	chr19:19548648-19548649	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs73922883	chr19:19548692-19548693	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552431629	chr19:19548696-19548697	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs577288355	chr19:19548703-19548704	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs150835351	chr19:19548757-19548758	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs80079826	chr19:19548790-19548791	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs190783494	chr19:19548817-19548818	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs542242033	chr19:19548936-19548937	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs548962092	chr19:19548941-19548942	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs182986869	chr19:19548955-19548956	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs35057619	chr19:19548975-19548976	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs575878268	chr19:19548985-19548986	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs139613374	chr19:19549012-19549013	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs564677262	chr19:19549028-19549029	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs142919299	chr19:19549081-19549082	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs374012447	chr19:19549083-19549084	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs532094839	chr19:19549085-19549086	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19518600-19549800	Weak transcription	Fetal Brain Female	brain
2	chr19:19522200-19548600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr19:19522200-19563400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:19534800-19548400	Weak transcription	HSMM	muscle
5	chr19:19537000-19549000	Weak transcription	Brain Germinal Matrix	brain
6	chr19:19537200-19549200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr19:19537800-19549800	Weak transcription	A549	lung
8	chr19:19538200-19554800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:19538400-19555000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:19538400-19555200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr19:19538400-19555800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:19538400-19556800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr19:19538400-19556800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:19539800-19555000	Weak transcription	Stomach Mucosa	stomach
15	chr19:19540200-19548400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr19:19540200-19555400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr19:19540200-19562600	Weak transcription	Fetal Intestine Large	intestine
18	chr19:19540800-19549000	Weak transcription	Esophagus	oesophagus
19	chr19:19541400-19548600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr19:19543400-19549000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr19:19543400-19550800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:19543600-19548400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:19544000-19549200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:19544000-19551000	Strong transcription	Dnd41	blood
25	chr19:19544200-19555800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr19:19544400-19548600	Weak transcription	GM12878-XiMat	blood
27	chr19:19544400-19563400	Weak transcription	Fetal Kidney	kidney
28	chr19:19544600-19550400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:19545000-19550400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:19545200-19549000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
31	chr19:19545200-19550400	Genic enhancers	Primary T cells fromperipheralblood	blood
32	chr19:19545200-19550400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr19:19545400-19550200	Strong transcription	Fetal Thymus	thymus
34	chr19:19545400-19552200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:19545400-19556000	Strong transcription	Fetal Intestine Small	intestine
36	chr19:19545400-19562200	Weak transcription	Brain Angular Gyrus	brain
37	chr19:19545600-19549200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:19545600-19553800	Weak transcription	Placenta	Placenta
39	chr19:19545600-19554800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr19:19545600-19568600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr19:19545800-19548600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr19:19545800-19548800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:19545800-19548800	Weak transcription	Psoas Muscle	Psoas
44	chr19:19545800-19549200	Weak transcription	Brain Hippocampus Middle	brain
45	chr19:19545800-19549800	Weak transcription	HMEC	breast
46	chr19:19545800-19553400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr19:19545800-19554600	Weak transcription	HUVEC	blood vessel
48	chr19:19545800-19555200	Weak transcription	Aorta	Aorta
49	chr19:19545800-19555400	Weak transcription	Osteobl	bone
50	chr19:19545800-19558200	Weak transcription	Fetal Lung	lung

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