Variant report

Variant	esv3366303
Chromosome Location	chr19:18880152-18883550
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18880676..18881342-chr19:19110183..19110830,2	MCF-7	breast:
2	chr19:18882568..18885784-chr19:18942722..18944432,3	MCF-7	breast:
3	chr19:18882176..18882866-chr19:18977411..18977945,2	MCF-7	breast:
4	chr19:18878304..18880203-chr19:18960332..18962357,2	MCF-7	breast:
5	chr19:18880720..18881671-chr19:18943178..18944134,2	MCF-7	breast:
6	chr19:18879555..18882171-chr19:18889752..18892151,2	MCF-7	breast:
7	chr19:18870939..18874393-chr19:18880891..18884854,3	K562	blood:
8	chr19:18880668..18881671-chr19:18943178..18944244,3	MCF-7	breast:
9	chr19:18882666..18885007-chr19:18949249..18951602,2	K562	blood:
10	chr19:18879904..18881816-chr19:18903535..18906378,2	MCF-7	breast:
11	chr19:18880004..18881941-chr19:18884562..18887049,2	MCF-7	breast:
12	chr19:18845318..18847761-chr19:18881777..18883860,2	K562	blood:
13	chr19:18793477..18796514-chr19:18879346..18882602,3	MCF-7	breast:
14	chr19:18557792..18559454-chr19:18878967..18881319,2	MCF-7	breast:
15	chr19:18878664..18880581-chr19:18958181..18960145,2	MCF-7	breast:
16	chr19:18880198..18881176-chr19:19110123..19110683,2	MCF-7	breast:
17	chr19:18879339..18881296-chr19:19028545..19030550,2	MCF-7	breast:
18	chr19:18872893..18875697-chr19:18882255..18885154,3	K562	blood:
19	chr19:18866490..18868297-chr19:18882413..18884111,2	K562	blood:
20	chr19:18879279..18882586-chr19:18891947..18894710,3	MCF-7	breast:
21	chr19:18879564..18881253-chr19:18901365..18903638,2	MCF-7	breast:
22	chr19:18881325..18883950-chr19:18956638..18959292,2	MCF-7	breast:
23	chr19:18882889..18885685-chr19:18945828..18948339,2	MCF-7	breast:
24	chr19:18882021..18883001-chr19:18957503..18958514,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105662	chromatin interactions
ENSG00000105664	chromatin interactions
ENSG00000105671	chromatin interactions
ENSG00000105669	chromatin interactions
ENSG00000005007	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs79862271	chr19:18880181-18880182	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs145687237	chr19:18880183-18880184	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs550683745	chr19:18880252-18880253	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs554676051	chr19:18880264-18880265	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs570964793	chr19:18880273-18880274	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs539547022	chr19:18880289-18880290	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs138280590	chr19:18880296-18880297	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs140344285	chr19:18880299-18880300	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs536170114	chr19:18880307-18880308	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs145425643	chr19:18880321-18880322	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs552758637	chr19:18880332-18880333	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs572666736	chr19:18880360-18880361	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs541929244	chr19:18880419-18880420	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs575983023	chr19:18880489-18880490	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs368995088	chr19:18880494-18880495	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs537884657	chr19:18880512-18880513	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs557462002	chr19:18880520-18880521	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs112163265	chr19:18880534-18880535	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs377503179	chr19:18880558-18880559	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs560306353	chr19:18880569-18880570	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs114063088	chr19:18880577-18880578	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs372128268	chr19:18880579-18880580	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs376487745	chr19:18880593-18880594	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs370975343	chr19:18880625-18880626	Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs555049455	chr19:18880674-18880675	Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs72997392	chr19:18880736-18880737	Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs550999568	chr19:18880767-18880768	Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs575230652	chr19:18880925-18880926	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs564275680	chr19:18880957-18880958	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs533474271	chr19:18880978-18880979	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs546741538	chr19:18881001-18881002	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs79049278	chr19:18881023-18881024	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs16982626	chr19:18881097-18881098	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564817267	chr19:18881236-18881237	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs367886278	chr19:18881248-18881249	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs78533988	chr19:18881286-18881287	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs549586456	chr19:18881304-18881305	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs533673170	chr19:18881322-18881323	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs569614275	chr19:18881329-18881330	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs538155441	chr19:18881332-18881333	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs557739761	chr19:18881358-18881359	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs571116700	chr19:18881359-18881360	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs533904939	chr19:18881387-18881388	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs561505797	chr19:18881409-18881410	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs553423631	chr19:18881419-18881420	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs573380322	chr19:18881420-18881421	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs542453236	chr19:18881471-18881472	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs574587877	chr19:18881487-18881488	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs555936430	chr19:18881490-18881491	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs150517400	chr19:18881507-18881508	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18854600-18895800	Weak transcription	Right Atrium	heart
2	chr19:18862600-18888400	Weak transcription	Aorta	Aorta
3	chr19:18864600-18887400	Weak transcription	Primary B cells from cord blood	blood
4	chr19:18865000-18885000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:18865400-18887400	Weak transcription	Primary T cells from cord blood	blood
6	chr19:18865600-18894600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr19:18865600-18896000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr19:18868000-18885400	Weak transcription	Thymus	Thymus
9	chr19:18868200-18890600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:18873800-18881400	Weak transcription	Fetal Brain Male	brain
11	chr19:18873800-18885200	Weak transcription	Spleen	Spleen
12	chr19:18873800-18889200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr19:18873800-18889200	Weak transcription	Left Ventricle	heart
14	chr19:18873800-18895600	Weak transcription	Ovary	ovary
15	chr19:18873800-18896200	Weak transcription	Brain Angular Gyrus	brain
16	chr19:18874000-18881200	Weak transcription	Brain Anterior Caudate	brain
17	chr19:18874000-18881600	Weak transcription	Fetal Kidney	kidney
18	chr19:18874000-18885800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr19:18874000-18887000	Weak transcription	Colon Smooth Muscle	Colon
20	chr19:18874200-18886400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr19:18874400-18885600	Weak transcription	Right Ventricle	heart
22	chr19:18874800-18881400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:18875200-18889200	Weak transcription	Adipose Nuclei	Adipose
24	chr19:18875400-18882000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr19:18875800-18886200	Weak transcription	NHLF	lung
26	chr19:18876000-18886800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:18876000-18886800	Weak transcription	A549	lung
28	chr19:18876200-18886600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:18876200-18886800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:18876200-18888800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:18876400-18880200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr19:18876400-18883400	Weak transcription	Pancreas	Pancrea
33	chr19:18876400-18886600	Weak transcription	Osteobl	bone
34	chr19:18876400-18887600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr19:18876400-18888600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:18876600-18880200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr19:18876600-18880200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:18876600-18883200	Weak transcription	NHEK	skin
39	chr19:18878200-18883800	Strong transcription	Fetal Brain Female	brain
40	chr19:18878400-18880400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr19:18878400-18880400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr19:18878400-18880600	Genic enhancers	Fetal Intestine Small	intestine
43	chr19:18878400-18880600	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr19:18878400-18880600	Enhancers	HSMMtube	muscle
45	chr19:18878400-18880800	Strong transcription	Primary B cells from peripheral blood	blood
46	chr19:18878600-18880200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:18878600-18880200	Enhancers	Fetal Lung	lung
48	chr19:18878600-18880600	Enhancers	HSMM	muscle
49	chr19:18878600-18881000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:18878800-18880600	Enhancers	Fetal Intestine Large	intestine

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