Variant report

Variant	esv3358787
Chromosome Location	chr19:27738433-27740576
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	chr17:57931756..57934704-chr19:27735828..27738481,2	MCF-7	breast:
2	chr1:121482889..121485426-chr19:27733290..27740540,17	K562	blood:
3	chr10:42528106..42531063-chr19:27736683..27739174,2	K562	blood:
4	chr1:244228644..244231049-chr19:27736676..27739352,2	MCF-7	breast:
5	chr19:27738249..27739165-chr3:64009126..64009721,2	MCF-7	breast:
6	chr10:42529415..42529944-chr19:27739260..27739782,2	MCF-7	breast:
7	chr19:27738249..27739002-chr7:18865984..18866492,2	MCF-7	breast:
8	chr10:42529082..42529941-chr19:27738664..27739193,3	MCF-7	breast:
9	chr10:42528075..42531081-chr19:27735905..27739791,6	MCF-7	breast:
10	chr1:121483051..121485429-chr19:27736244..27740196,9	MCF-7	breast:
11	chr13:28193921..28196192-chr19:27738694..27740822,2	MCF-7	breast:
12	chr10:42529442..42530392-chr19:27737662..27738480,2	MCF-7	breast:
13	chr1:149223688..149224417-chr19:27738499..27739289,2	MCF-7	breast:
14	chr10:42528436..42531081-chr19:27736662..27739367,4	MCF-7	breast:
15	chr10:42530145..42531061-chr19:27738673..27739367,3	MCF-7	breast:
16	chr19:27739276..27740188-chr3:90489068..90489568,2	MCF-7	breast:
17	chr1:121484242..121485223-chr19:27739792..27740312,2	MCF-7	breast:
18	chr19:27731229..27733515-chr19:27737682..27740212,3	MCF-7	breast:
19	chr1:121484295..121485024-chr19:27738000..27738548,3	MCF-7	breast:
20	chr1:12392654..12393407-chr19:27738850..27739687,2	MCF-7	breast:
21	chr19:27738271..27739820-chr6:58772163..58774918,2	MCF-7	breast:
22	chr1:121483138..121485425-chr19:27735007..27739872,9	MCF-7	breast:
23	chr19:27731712..27733212-chr19:27736249..27738480,2	MCF-7	breast:
24	chr1:121482889..121485426-chr19:27735763..27740540,17	K562	blood:
25	chr19:27738500..27739360-chr2:237227769..237228539,2	MCF-7	breast:
26	chr16:31225017..31226858-chr19:27739368..27741281,2	MCF-7	breast:
27	chr17:58603504..58604171-chr19:27738843..27739764,2	MCF-7	breast:
28	chr16:69363397..69365027-chr19:27738551..27740871,2	MCF-7	breast:
29	chr10:42530126..42531081-chr19:27738662..27739344,3	MCF-7	breast:
30	chr19:27738271..27740312-chr4:68262912..68265515,2	MCF-7	breast:
31	chr11:117787369..117787889-chr19:27738686..27739368,2	K562	blood:
32	chr19:18498589..18499092-chr19:27739098..27739794,2	HCT-116	colon:
33	chr19:27736247..27738846-chr8:34200775..34202275,2	MCF-7	breast:
34	chr16:5710936..5711647-chr19:27738832..27739454,2	MCF-7	breast:
35	chr18:60172493..60172994-chr19:27739182..27739818,2	MCF-7	breast:
36	chr1:121483957..121484819-chr19:27737979..27738502,3	MCF-7	breast:

No data

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

Extended variants
information (count: 695 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:695 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71297102	chr19:27738437-27738438	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs200914145	chr19:27738438-27738439	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs75599449	chr19:27738449-27738450	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs139841731	chr19:27738459-27738460	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs77907463	chr19:27738460-27738461	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs79365948	chr19:27738465-27738466	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs75244220	chr19:27738469-27738470	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs9710200	chr19:27738495-27738496	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs9710121	chr19:27738501-27738502	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs28788200	chr19:27738512-27738513	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs7507232	chr19:27738517-27738518	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs528697725	chr19:27738519-27738520	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs202053557	chr19:27738520-27738521	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs76764627	chr19:27738523-27738524	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs75995075	chr19:27738524-27738525	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs4109995	chr19:27738545-27738546	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs201877160	chr19:27738548-27738549	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs571988041	chr19:27738565-27738566	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs538612438	chr19:27738566-27738567	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs556712562	chr19:27738568-27738569	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs372586940	chr19:27738569-27738570	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs74602409	chr19:27738572-27738573	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs377100133	chr19:27738573-27738574	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs76329580	chr19:27738574-27738575	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs79637698	chr19:27738578-27738579	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs74519073	chr19:27738580-27738581	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs554746822	chr19:27738584-27738585	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs572654862	chr19:27738585-27738586	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs540047330	chr19:27738593-27738594	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs558402368	chr19:27738595-27738596	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs576755278	chr19:27738596-27738597	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs147946897	chr19:27738600-27738601	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs75083416	chr19:27738606-27738607	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs62136727	chr19:27738609-27738610	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs62136752	chr19:27738614-27738615	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs4898155	chr19:27738618-27738619	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs141879739	chr19:27738619-27738620	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs545369480	chr19:27738621-27738622	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs563572103	chr19:27738634-27738635	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs62136753	chr19:27738635-27738636	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs531029602	chr19:27738636-27738637	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs199968512	chr19:27738639-27738640	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs201257726	chr19:27738643-27738644	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs28839545	chr19:27738647-27738648	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs376663624	chr19:27738650-27738651	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs542706067	chr19:27738653-27738654	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs561440746	chr19:27738659-27738660	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs528658787	chr19:27738668-27738669	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs368702080	chr19:27738671-27738672	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs373478580	chr19:27738673-27738674	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 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:132 , 50 per page) page: 1 2 3

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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