Variant report

Variant	esv3317998
Chromosome Location	chr19:19257888-19258393
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19244353..19247237-chr19:19256209..19258577,3	K562	blood:
2	chr19:19247943..19252165-chr19:19253353..19258358,6	MCF-7	breast:
3	chr19:19256714..19258760-chr19:19284890..19287381,2	K562	blood:
4	chr19:19256287..19258012-chr19:19281605..19284547,2	MCF-7	breast:
5	chr19:19256986..19258227-chr19:19600904..19601838,3	K562	blood:
6	chr19:19244353..19249759-chr19:19255407..19258937,4	K562	blood:
7	chr19:19248259..19252724-chr19:19255347..19258957,6	K562	blood:
8	chr19:19256536..19257940-chr19:19284998..19286463,13	K562	blood:
9	chr19:19255446..19258219-chr19:19516334..19519310,2	K562	blood:
10	chr19:19256328..19259156-chr19:19260184..19262350,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000064545	chromatin interactions
ENSG00000167491	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374422850	chr19:19257899-19257900	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs148600007	chr19:19257900-19257901	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs142225963	chr19:19257904-19257905	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs368955474	chr19:19257905-19257906	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs529053843	chr19:19257930-19257931	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs151213204	chr19:19257933-19257934	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs140321393	chr19:19257937-19257938	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs568531616	chr19:19257954-19257955	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs201744350	chr19:19258023-19258024	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs184333206	chr19:19258029-19258030	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375607272	chr19:19258101-19258102	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs148960731	chr19:19258161-19258162	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs539488623	chr19:19258172-19258173	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs375526866	chr19:19258225-19258226	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs371667016	chr19:19258292-19258293	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs553624831	chr19:19258294-19258295	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573202434	chr19:19258305-19258306	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs541975803	chr19:19258325-19258326	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs3729769	chr19:19258361-19258362	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs575464062	chr19:19258379-19258380	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2238664	chr19:19258385-19258386	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Bladder cancer	21909424	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19249400-19259600	Weak transcription	Aorta	Aorta
2	chr19:19249400-19259800	Weak transcription	Left Ventricle	heart
3	chr19:19249400-19271200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:19249600-19258400	Weak transcription	Right Atrium	heart
5	chr19:19249600-19271800	Weak transcription	Brain Substantia Nigra	brain
6	chr19:19249600-19282600	Weak transcription	NHLF	lung
7	chr19:19249800-19258400	Weak transcription	Dnd41	blood
8	chr19:19249800-19258800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:19249800-19259600	Weak transcription	Primary T cells from cord blood	blood
10	chr19:19249800-19259800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:19249800-19260000	Weak transcription	Brain Anterior Caudate	brain
12	chr19:19249800-19261800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr19:19249800-19269000	Weak transcription	Brain Angular Gyrus	brain
14	chr19:19249800-19271200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr19:19249800-19280600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:19250000-19261400	Weak transcription	HepG2	liver
17	chr19:19250000-19266800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr19:19250600-19271800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:19252800-19272400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr19:19253600-19265600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:19255800-19261400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:19256000-19262600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr19:19256400-19258800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:19256800-19258000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:19257000-19258000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:19257000-19258000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr19:19257000-19258200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:19257000-19258200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr19:19257000-19259000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:19257000-19259800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr19:19257000-19259800	Weak transcription	Brain Germinal Matrix	brain
32	chr19:19257000-19259800	Weak transcription	Fetal Lung	lung
33	chr19:19257000-19260600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:19257000-19261000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr19:19257000-19261400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:19257000-19261600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:19257000-19261800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:19257000-19262000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr19:19257000-19262400	Strong transcription	Fetal Intestine Small	intestine
40	chr19:19257000-19263000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr19:19257000-19266600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:19257000-19271200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr19:19257000-19271600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr19:19257000-19280400	Weak transcription	Gastric	stomach
45	chr19:19257000-19280400	Weak transcription	Pancreas	Pancrea
46	chr19:19257200-19258200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr19:19257200-19258400	Strong transcription	Right Ventricle	heart
48	chr19:19257200-19258800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr19:19257200-19259400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr19:19257200-19262600	Strong transcription	Fetal Stomach	stomach

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