Variant report

Variant	esv3365679
Chromosome Location	chr19:27738236-27750109
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:121482889..121485426-chr19:27733290..27740540,17	K562	blood:
2	chr1:12392654..12393407-chr19:27738850..27739687,2	MCF-7	breast:
3	chr16:69363397..69365027-chr19:27738551..27740871,2	MCF-7	breast:
4	chr10:42529082..42529941-chr19:27738664..27739193,3	MCF-7	breast:
5	chr10:42528075..42531081-chr19:27735905..27739791,6	MCF-7	breast:
6	chr10:42529442..42530392-chr19:27737662..27738480,2	MCF-7	breast:
7	chr1:244228644..244231049-chr19:27736676..27739352,2	MCF-7	breast:
8	chr10:42529415..42529944-chr19:27739260..27739782,2	MCF-7	breast:
9	chr10:42530145..42531061-chr19:27738673..27739367,3	MCF-7	breast:
10	chr19:27739276..27740188-chr3:90489068..90489568,2	MCF-7	breast:
11	chr10:42528106..42531063-chr19:27736683..27739174,2	K562	blood:
12	chr17:57931756..57934704-chr19:27735828..27738481,2	MCF-7	breast:
13	chr17:58603504..58604171-chr19:27738843..27739764,2	MCF-7	breast:
14	chr1:121482889..121485426-chr19:27735763..27740540,17	K562	blood:
15	chr19:27731712..27733212-chr19:27736249..27738480,2	MCF-7	breast:
16	chr16:31225017..31226858-chr19:27739368..27741281,2	MCF-7	breast:
17	chr13:28193921..28196192-chr19:27738694..27740822,2	MCF-7	breast:
18	chr19:27738249..27739002-chr7:18865984..18866492,2	MCF-7	breast:
19	chr1:121484242..121485223-chr19:27739792..27740312,2	MCF-7	breast:
20	chr10:42530126..42531081-chr19:27738662..27739344,3	MCF-7	breast:
21	chr11:117787369..117787889-chr19:27738686..27739368,2	K562	blood:
22	chr19:27731229..27733515-chr19:27737682..27740212,3	MCF-7	breast:
23	chr19:27738271..27740312-chr4:68262912..68265515,2	MCF-7	breast:
24	chr19:27736247..27738846-chr8:34200775..34202275,2	MCF-7	breast:
25	chr10:42528436..42531081-chr19:27736662..27739367,4	MCF-7	breast:
26	chr19:27738249..27739165-chr3:64009126..64009721,2	MCF-7	breast:
27	chr1:121483957..121484819-chr19:27737979..27738502,3	MCF-7	breast:
28	chr19:27738500..27739360-chr2:237227769..237228539,2	MCF-7	breast:
29	chr1:121483138..121485425-chr19:27735007..27739872,9	MCF-7	breast:
30	chr19:18498589..18499092-chr19:27739098..27739794,2	HCT-116	colon:
31	chr16:5710936..5711647-chr19:27738832..27739454,2	MCF-7	breast:
32	chr18:60172493..60172994-chr19:27739182..27739818,2	MCF-7	breast:
33	chr1:121484295..121485024-chr19:27738000..27738548,3	MCF-7	breast:
34	chr19:27738271..27739820-chr6:58772163..58774918,2	MCF-7	breast:
35	chr1:121483051..121485429-chr19:27736244..27740196,9	MCF-7	breast:
36	chr1:149223688..149224417-chr19:27738499..27739289,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259349	chromatin interactions
ENSG00000186184	chromatin interactions
ENSG00000258429	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000062725	chromatin interactions
ENSG00000177238	chromatin interactions
ENSG00000139517	chromatin interactions

Extended variants
information (count: 2046 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:2046 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9797503	chr19:27738238-27738239	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs547372931	chr19:27738243-27738244	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs12982705	chr19:27738245-27738246	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs376770353	chr19:27738249-27738250	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs4898083	chr19:27738252-27738253	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372250834	chr19:27738253-27738254	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs9797504	chr19:27738254-27738255	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533249060	chr19:27738255-27738256	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77789022	chr19:27738261-27738262	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551415827	chr19:27738266-27738267	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs9710108	chr19:27738270-27738271	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs570067009	chr19:27738272-27738273	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191697678	chr19:27738274-27738275	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537622685	chr19:27738275-27738276	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373077328	chr19:27738279-27738280	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs549339119	chr19:27738290-27738291	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374024062	chr19:27738291-27738292	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs368167437	chr19:27738292-27738293	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs567931837	chr19:27738293-27738294	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs376526563	chr19:27738298-27738299	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs370448716	chr19:27738299-27738300	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs371055221	chr19:27738302-27738303	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535379246	chr19:27738307-27738308	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552999438	chr19:27738309-27738310	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577662460	chr19:27738310-27738311	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538645010	chr19:27738312-27738313	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371290040	chr19:27738313-27738314	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200569636	chr19:27738318-27738319	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374900118	chr19:27738319-27738320	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs373816065	chr19:27738329-27738330	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs78825156	chr19:27738331-27738332	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs79226108	chr19:27738332-27738333	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542787355	chr19:27738333-27738334	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs367659202	chr19:27738338-27738339	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs560962278	chr19:27738341-27738342	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs572793586	chr19:27738343-27738344	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs77291271	chr19:27738344-27738345	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs76174095	chr19:27738349-27738350	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372276126	chr19:27738354-27738355	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs75791902	chr19:27738357-27738358	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs2864442	chr19:27738359-27738360	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs78804200	chr19:27738361-27738362	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376663312	chr19:27738363-27738364	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533117318	chr19:27738364-27738365	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs199889082	chr19:27738365-27738366	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs62136725	chr19:27738370-27738371	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs545022761	chr19:27738372-27738373	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs62136726	chr19:27738376-27738377	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs372305280	chr19:27738378-27738379	ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs28863337	chr19:27738400-27738401	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:38)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
Lung cancer	18438408	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27731800-27738600	ZNF genes & repeats	Thymus	Thymus
2	chr19:27731800-27739000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr19:27731800-27739600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
4	chr19:27731800-27739600	ZNF genes & repeats	Brain Hippocampus Middle	brain
5	chr19:27731800-27739600	ZNF genes & repeats	Fetal Intestine Large	intestine
6	chr19:27731800-27739600	ZNF genes & repeats	Ovary	ovary
7	chr19:27731800-27739600	ZNF genes & repeats	Spleen	Spleen
8	chr19:27731800-27739800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr19:27731800-27739800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
10	chr19:27731800-27739800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
11	chr19:27731800-27739800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:27731800-27739800	ZNF genes & repeats	Fetal Stomach	stomach
13	chr19:27731800-27740000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
14	chr19:27731800-27740000	ZNF genes & repeats	Colonic Mucosa	Colon
15	chr19:27731800-27740200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:27731800-27740400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr19:27731800-27740400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:27731800-27740400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:27731800-27740400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:27731800-27740400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
21	chr19:27731800-27740400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
23	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
24	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:27731800-27740400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
26	chr19:27731800-27740400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
27	chr19:27731800-27740400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
28	chr19:27731800-27740400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:27731800-27740400	ZNF genes & repeats	Fetal Heart	heart
30	chr19:27731800-27740400	ZNF genes & repeats	Fetal Lung	lung
31	chr19:27731800-27740400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
32	chr19:27731800-27740400	ZNF genes & repeats	Small Intestine	intestine
33	chr19:27731800-27740400	ZNF genes & repeats	Stomach Mucosa	stomach
34	chr19:27731800-27740600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr19:27731800-27740600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
36	chr19:27731800-27740600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:27731800-27740600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr19:27731800-27740600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:27731800-27740600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr19:27731800-27740600	ZNF genes & repeats	Primary B cells from cord blood	blood
41	chr19:27731800-27740600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
43	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
44	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:27731800-27740600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:27731800-27740600	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr19:27731800-27740600	ZNF genes & repeats	Liver	Liver
48	chr19:27731800-27740600	ZNF genes & repeats	Brain Angular Gyrus	brain
49	chr19:27731800-27740600	ZNF genes & repeats	Brain Anterior Caudate	brain
50	chr19:27731800-27740600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain

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