Variant report

Variant	esv3436515
Chromosome Location	chr19:42411612-42412710
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42363979..42365756-chr19:42409559..42411922,2	MCF-7	breast:
2	chr19:42411044..42412628-chr19:42460867..42463407,2	K562	blood:
3	chr19:42406370..42409595-chr19:42409748..42413169,6	K562	blood:
4	chr19:42404765..42407513-chr19:42412043..42413976,2	MCF-7	breast:
5	chr19:42411008..42413739-chr19:42433473..42435973,2	K562	blood:
6	chr19:42407772..42411584-chr19:42411987..42415149,3	MCF-7	breast:
7	chr19:42386808..42388903-chr19:42409471..42412143,2	K562	blood:
8	chr19:42407893..42409933-chr19:42411408..42413461,2	MCF-7	breast:
9	chr19:42386109..42390387-chr19:42411996..42416642,6	K562	blood:
10	chr19:42398848..42401100-chr19:42409902..42411983,2	MCF-7	breast:
11	chr19:42400409..42404033-chr19:42410840..42416491,6	K562	blood:
12	chr19:42364123..42365765-chr19:42410876..42413809,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105372	chromatin interactions
ENSG00000076928	chromatin interactions
ENSG00000105404	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367849364	chr19:42411623-42411624	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs188225359	chr19:42411624-42411625	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs532844710	chr19:42411644-42411645	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs150485999	chr19:42411666-42411667	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs566122439	chr19:42411737-42411738	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs373516904	chr19:42411792-42411793	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs555072329	chr19:42411824-42411825	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs575897184	chr19:42411880-42411881	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs527742790	chr19:42411924-42411925	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs568710288	chr19:42411927-42411928	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs535805852	chr19:42411934-42411935	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs547393124	chr19:42411954-42411955	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs377603108	chr19:42412006-42412007	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs11315010	chr19:42412013-42412014	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs111262850	chr19:42412018-42412019	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs557566823	chr19:42412026-42412027	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs373026377	chr19:42412057-42412058	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs66589495	chr19:42412058-42412059	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs10678871	chr19:42412064-42412065	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs575955423	chr19:42412139-42412140	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs546310863	chr19:42412217-42412218	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs558239951	chr19:42412218-42412219	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs573258046	chr19:42412219-42412220	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs142789626	chr19:42412229-42412230	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs540590544	chr19:42412243-42412244	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs561953161	chr19:42412247-42412248	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs192948775	chr19:42412260-42412261	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs138350404	chr19:42412310-42412311	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs376388072	chr19:42412377-42412378	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs149218370	chr19:42412388-42412389	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs533002981	chr19:42412404-42412405	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs551170401	chr19:42412442-42412443	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs566183997	chr19:42412469-42412470	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs527418318	chr19:42412474-42412475	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs184878824	chr19:42412494-42412495	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs567176957	chr19:42412500-42412501	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs891169	chr19:42412539-42412540	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs551336701	chr19:42412544-42412545	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs569577519	chr19:42412561-42412562	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs138952382	chr19:42412579-42412580	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs558403060	chr19:42412580-42412581	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs891170	chr19:42412584-42412585	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs377566576	chr19:42412621-42412622	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs891171	chr19:42412650-42412651	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555712600	chr19:42412651-42412652	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs574000479	chr19:42412699-42412700	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42389200-42429200	Weak transcription	Right Atrium	heart
2	chr19:42392000-42412600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr19:42392000-42412600	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr19:42392000-42412600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:42392200-42412400	Strong transcription	Fetal Muscle Leg	muscle
6	chr19:42392200-42412800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr19:42392400-42412400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:42392400-42413200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:42392600-42411800	Strong transcription	Placenta	Placenta
10	chr19:42392600-42413600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr19:42393400-42413600	Strong transcription	Thymus	Thymus
12	chr19:42393800-42413000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:42394000-42413000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:42395600-42412400	Strong transcription	Right Ventricle	heart
15	chr19:42395800-42411800	Strong transcription	Fetal Brain Female	brain
16	chr19:42396000-42411800	Strong transcription	Brain Hippocampus Middle	brain
17	chr19:42396000-42412000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr19:42396800-42415200	Strong transcription	Dnd41	blood
19	chr19:42397400-42413600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:42397600-42412800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr19:42398800-42412600	Strong transcription	Spleen	Spleen
22	chr19:42398800-42414000	Strong transcription	Fetal Thymus	thymus
23	chr19:42400200-42412400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr19:42401800-42411800	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr19:42401800-42412400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:42401800-42412600	Strong transcription	Ovary	ovary
27	chr19:42402000-42411800	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr19:42402200-42411800	Strong transcription	Brain Substantia Nigra	brain
29	chr19:42402200-42412000	Strong transcription	Primary T cells from cord blood	blood
30	chr19:42402800-42411800	Strong transcription	Adipose Nuclei	Adipose
31	chr19:42403000-42412600	Weak transcription	Psoas Muscle	Psoas
32	chr19:42403000-42413200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr19:42404000-42412000	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:42405400-42412400	Strong transcription	Brain Germinal Matrix	brain
35	chr19:42405600-42411800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:42405600-42411800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:42406200-42411800	Strong transcription	Osteobl	bone
38	chr19:42406800-42413200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:42407000-42413800	Weak transcription	HUVEC	blood vessel
40	chr19:42408000-42413600	Strong transcription	NHLF	lung
41	chr19:42408000-42414200	Weak transcription	Fetal Kidney	kidney
42	chr19:42408400-42412600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr19:42408400-42414200	Weak transcription	K562	blood
44	chr19:42408600-42413000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr19:42408600-42413600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:42408800-42411800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr19:42408800-42411800	Strong transcription	Liver	Liver
48	chr19:42409000-42413200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:42409200-42411800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:42409200-42411800	Genic enhancers	A549	lung

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