Variant report

Variant	esv3391313
Chromosome Location	chr19:18978452-18981150
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:1)
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	chr19:18977955..18980267-chr19:18984796..18987025,2	MCF-7	breast:
2	chr19:18960784..18962475-chr19:18978438..18980131,2	K562	blood:
3	chr19:18976765..18981353-chr19:18988726..18992565,5	K562	blood:
4	chr19:18963646..18965570-chr19:18977086..18979214,2	K562	blood:
5	chr19:18979325..18981152-chr19:19008928..19011883,2	K562	blood:
6	chr19:18941414..18944401-chr19:18975795..18980469,5	MCF-7	breast:
7	chr19:18979537..18984476-chr19:19027015..19031327,4	K562	blood:
8	chr19:18959200..18960777-chr19:18978860..18981735,2	K562	blood:
9	chr19:18977453..18979163-chr19:18981290..18984197,2	K562	blood:
10	chr19:18977329..18979019-chr19:18979080..18981644,2	MCF-7	breast:
11	chr19:18981107..18982659-chr19:18985530..18987661,2	MCF-7	breast:
12	chr19:18976801..18979191-chr19:18979322..18983754,5	MCF-7	breast:
13	chr19:18977329..18979019-chr19:18979080..18981644,2	MCF-7	breast:
14	chr19:18977856..18980338-chr19:18985315..18988284,3	K562	blood:
15	chr19:18977344..18982900-chr19:19025214..19031477,5	MCF-7	breast:
16	chr19:18978885..18981974-chr19:19006275..19008984,3	MCF-7	breast:
17	chr19:18974657..18976730-chr19:18979703..18982678,3	MCF-7	breast:
18	chr19:18975867..18978694-chr19:18984023..18986004,2	MCF-7	breast:
19	chr19:18976801..18979191-chr19:18979322..18983754,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UPF1-1	chr19:18980844-18981428	NONHSAT062999

No data

Variant related genes	Relation type
ENSG00000130283	chromatin interactions
ENSG00000223802	chromatin interactions
ENSG00000105671	chromatin interactions
ENSG00000005007	chromatin interactions
ENSG00000269694	chromatin interactions
ENSG00000105669	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536221306	chr19:18978457-18978458	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs553001483	chr19:18978477-18978478	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs118015691	chr19:18978480-18978481	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs535526059	chr19:18978548-18978549	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs555133371	chr19:18978549-18978550	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs575416121	chr19:18978585-18978586	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs544026025	chr19:18978597-18978598	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs111864205	chr19:18978616-18978617	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs558039144	chr19:18978642-18978643	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs577509131	chr19:18978643-18978644	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs149305347	chr19:18978670-18978671	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs559301786	chr19:18978727-18978728	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs146615704	chr19:18978742-18978743	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs374568671	chr19:18978797-18978798	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs541936883	chr19:18978808-18978809	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs15170	chr19:18978822-18978823	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs12879	chr19:18978823-18978824	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs531137147	chr19:18978825-18978826	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs550885363	chr19:18978832-18978833	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs564846446	chr19:18978862-18978863	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs200588359	chr19:18978874-18978875	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs189584532	chr19:18978892-18978893	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs549721416	chr19:18978895-18978896	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs546652305	chr19:18978903-18978904	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs566488297	chr19:18978963-18978964	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs148071132	chr19:18978970-18978971	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs141785250	chr19:18979002-18979003	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs1044693	chr19:18979010-18979011	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs373706311	chr19:18979019-18979020	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs570007025	chr19:18979060-18979061	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs117558072	chr19:18979061-18979062	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs558667723	chr19:18979065-18979066	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs557667984	chr19:18979071-18979072	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs577546323	chr19:18979107-18979108	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs533822694	chr19:18979143-18979144	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs553616041	chr19:18979172-18979173	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs77642586	chr19:18979188-18979189	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs150576349	chr19:18979200-18979201	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs562221127	chr19:18979237-18979238	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs370590037	chr19:18979258-18979259	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs575645665	chr19:18979288-18979289	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs36020300	chr19:18979316-18979317	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs544819223	chr19:18979317-18979318	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs78128412	chr19:18979318-18979319	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs533530372	chr19:18979320-18979321	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs11673194	chr19:18979324-18979325	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs560719232	chr19:18979335-18979336	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs116068332	chr19:18979353-18979354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs374836827	chr19:18979382-18979383	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs577523638	chr19:18979401-18979402	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
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
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
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18954800-18979800	Strong transcription	Dnd41	blood
2	chr19:18958400-18979000	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr19:18958400-18979200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr19:18958400-18979400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr19:18958400-18979400	Strong transcription	Primary T cells from cord blood	blood
6	chr19:18958400-18979400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr19:18958400-18980200	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr19:18958600-18979000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:18958600-18979200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:18958600-18979400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:18958600-18979600	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr19:18958800-18979200	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr19:18958800-18979200	Strong transcription	Brain Germinal Matrix	brain
14	chr19:18959000-18979000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:18959000-18979000	Strong transcription	Gastric	stomach
16	chr19:18959200-18979200	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr19:18959800-18978800	Strong transcription	Fetal Brain Female	brain
18	chr19:18960000-18979400	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr19:18960400-18978600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:18960400-18978800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:18960400-18979200	Strong transcription	Fetal Intestine Small	intestine
22	chr19:18960600-18979000	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr19:18960600-18979200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:18960600-18979400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr19:18960600-18979600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr19:18960600-18982600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:18960800-18979200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:18960800-18979400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:18960800-18979400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:18961000-18979200	Strong transcription	Osteobl	bone
31	chr19:18961000-18979400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr19:18961000-18979600	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr19:18961000-18979600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:18961200-18979400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:18961200-18979400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr19:18961400-18979600	Strong transcription	Aorta	Aorta
37	chr19:18961600-18979400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr19:18961600-18979800	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr19:18961600-18979800	Strong transcription	NHLF	lung
40	chr19:18961600-18980800	Strong transcription	Pancreas	Pancrea
41	chr19:18961800-18979000	Strong transcription	Rectal Smooth Muscle	rectum
42	chr19:18961800-18979400	Strong transcription	NHDF-Ad	bronchial
43	chr19:18962200-18979000	Strong transcription	Colon Smooth Muscle	Colon
44	chr19:18962200-18979000	Strong transcription	NHEK	skin
45	chr19:18962200-18979600	Weak transcription	Right Atrium	heart
46	chr19:18962200-18979800	Strong transcription	Colonic Mucosa	Colon
47	chr19:18962600-18979200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:18963000-18980000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:18963800-18979200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:18965000-18979000	Strong transcription	Esophagus	oesophagus

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