Variant report

Variant	esv3338528
Chromosome Location	chr19:18977552-18981950
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:32)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18974657..18976730-chr19:18979703..18982678,3	MCF-7	breast:
2	chr19:18960784..18962475-chr19:18978438..18980131,2	K562	blood:
3	chr19:18981107..18982659-chr19:18985530..18987661,2	MCF-7	breast:
4	chr19:18977329..18979019-chr19:18979080..18981644,2	MCF-7	breast:
5	chr19:18971565..18973286-chr19:18974759..18978093,5	MCF-7	breast:
6	chr19:18705056..18705581-chr19:18976858..18977563,2	MCF-7	breast:
7	chr19:18977329..18979019-chr19:18979080..18981644,2	MCF-7	breast:
8	chr19:18978885..18981974-chr19:19006275..19008984,3	MCF-7	breast:
9	chr19:18979537..18984476-chr19:19027015..19031327,4	K562	blood:
10	chr19:18981741..18983441-chr19:18990489..18991991,2	K562	blood:
11	chr19:18977453..18979163-chr19:18981290..18984197,2	K562	blood:
12	chr19:18941414..18944401-chr19:18975795..18980469,5	MCF-7	breast:
13	chr19:18976765..18981353-chr19:18988726..18992565,5	K562	blood:
14	chr19:18977071..18977951-chr19:19051666..19052520,2	K562	blood:
15	chr19:18977021..18977863-chr19:19051957..19052867,2	MCF-7	breast:
16	chr19:18975867..18978694-chr19:18984023..18986004,2	MCF-7	breast:
17	chr19:18977079..18977984-chr19:19097300..19098157,3	MCF-7	breast:
18	chr19:18959200..18960777-chr19:18978860..18981735,2	K562	blood:
19	chr19:18977096..18978227-chr19:19097259..19098244,6	K562	blood:
20	chr19:18976801..18979191-chr19:18979322..18983754,5	MCF-7	breast:
21	chr19:18976234..18978409-chr19:19004531..19006846,2	MCF-7	breast:
22	chr19:18882176..18882866-chr19:18977411..18977945,2	MCF-7	breast:
23	chr19:18965125..18967769-chr19:18981345..18983154,2	K562	blood:
24	chr19:18976763..18977741-chr19:19007184..19008142,2	MCF-7	breast:
25	chr19:18977955..18980267-chr19:18984796..18987025,2	MCF-7	breast:
26	chr19:18977344..18982900-chr19:19025214..19031477,5	MCF-7	breast:
27	chr19:18977248..18977957-chr19:19026218..19027076,2	MCF-7	breast:
28	chr19:18963646..18965570-chr19:18977086..18979214,2	K562	blood:
29	chr19:18976801..18979191-chr19:18979322..18983754,5	MCF-7	breast:
30	chr19:18979325..18981152-chr19:19008928..19011883,2	K562	blood:
31	chr19:18977453..18979163-chr19:18981290..18984197,2	K562	blood:
32	chr19:18977856..18980338-chr19:18985315..18988284,3	K562	blood:

(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
ENSG00000006016	chromatin interactions
ENSG00000130283	chromatin interactions
ENSG00000223802	chromatin interactions
ENSG00000105669	chromatin interactions
ENSG00000105671	chromatin interactions
ENSG00000051128	chromatin interactions
ENSG00000005007	chromatin interactions
ENSG00000269694	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567906682	chr19:18977553-18977554	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs530829387	chr19:18977560-18977561	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs543479915	chr19:18977570-18977571	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs563683327	chr19:18977620-18977621	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs532366559	chr19:18977646-18977647	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs552271998	chr19:18977711-18977712	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs565786809	chr19:18977714-18977715	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs150206113	chr19:18977752-18977753	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs373365357	chr19:18977761-18977762	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs377704231	chr19:18977768-18977769	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs568709000	chr19:18977771-18977772	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs537729473	chr19:18977806-18977807	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs556716784	chr19:18977812-18977813	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs556654469	chr19:18977814-18977815	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs375666076	chr19:18977837-18977838	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs570444155	chr19:18977838-18977839	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs553097705	chr19:18977881-18977882	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs10410987	chr19:18977937-18977938	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553113804	chr19:18978004-18978005	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs572966141	chr19:18978005-18978006	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs542091243	chr19:18978009-18978010	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs559583059	chr19:18978016-18978017	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs368976978	chr19:18978017-18978018	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs575481607	chr19:18978028-18978029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs544509240	chr19:18978036-18978037	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs569912877	chr19:18978043-18978044	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs564193769	chr19:18978080-18978081	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs57677886	chr19:18978119-18978120	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539042812	chr19:18978127-18978128	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs139041545	chr19:18978137-18978138	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs557581918	chr19:18978228-18978229	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs10416469	chr19:18978250-18978251	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184160667	chr19:18978264-18978265	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs548405035	chr19:18978302-18978303	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs568624875	chr19:18978311-18978312	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs548484699	chr19:18978344-18978345	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs141504239	chr19:18978353-18978354	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs551278620	chr19:18978394-18978395	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs147066799	chr19:18978395-18978396	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs539479594	chr19:18978438-18978439	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

Variant related diseases (count:63)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18953200-18977600	Weak transcription	Fetal Heart	heart
2	chr19:18954800-18979800	Strong transcription	Dnd41	blood
3	chr19:18956200-18978400	Strong transcription	Thymus	Thymus
4	chr19:18958400-18977600	Strong transcription	Fetal Intestine Large	intestine
5	chr19:18958400-18979000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr19:18958400-18979200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:18958400-18979400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr19:18958400-18979400	Strong transcription	Primary T cells from cord blood	blood
9	chr19:18958400-18979400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr19:18958400-18980200	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:18958600-18979000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
12	chr19:18958600-18979200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr19:18958600-18979400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:18958600-18979600	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr19:18958800-18979200	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr19:18958800-18979200	Strong transcription	Brain Germinal Matrix	brain
17	chr19:18959000-18979000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:18959000-18979000	Strong transcription	Gastric	stomach
19	chr19:18959200-18979200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr19:18959800-18978800	Strong transcription	Fetal Brain Female	brain
21	chr19:18960000-18979400	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr19:18960400-18977600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:18960400-18978600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:18960400-18978800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:18960400-18979200	Strong transcription	Fetal Intestine Small	intestine
26	chr19:18960600-18979000	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr19:18960600-18979200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:18960600-18979400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr19:18960600-18979600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr19:18960600-18982600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:18960800-18979200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:18960800-18979400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr19:18960800-18979400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:18961000-18979200	Strong transcription	Osteobl	bone
35	chr19:18961000-18979400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:18961000-18979600	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr19:18961000-18979600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:18961200-18979400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:18961200-18979400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:18961400-18979600	Strong transcription	Aorta	Aorta
41	chr19:18961600-18979400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr19:18961600-18979800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr19:18961600-18979800	Strong transcription	NHLF	lung
44	chr19:18961600-18980800	Strong transcription	Pancreas	Pancrea
45	chr19:18961800-18979000	Strong transcription	Rectal Smooth Muscle	rectum
46	chr19:18961800-18979400	Strong transcription	NHDF-Ad	bronchial
47	chr19:18962200-18979000	Strong transcription	Colon Smooth Muscle	Colon
48	chr19:18962200-18979000	Strong transcription	NHEK	skin
49	chr19:18962200-18979600	Weak transcription	Right Atrium	heart
50	chr19:18962200-18979800	Strong transcription	Colonic Mucosa	Colon

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