Variant report

Variant	esv3347079
Chromosome Location	chr19:27736393-27740235
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:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:121483051..121485429-chr19:27736244..27740196,9	MCF-7	breast:
2	chr16:5710936..5711647-chr19:27738832..27739454,2	MCF-7	breast:
3	chr1:121483138..121485425-chr19:27735007..27739872,9	MCF-7	breast:
4	chr18:60172493..60172994-chr19:27739182..27739818,2	MCF-7	breast:
5	chr1:121483957..121484819-chr19:27737979..27738502,3	MCF-7	breast:
6	chr17:58603504..58604171-chr19:27738843..27739764,2	MCF-7	breast:
7	chr10:42528436..42531081-chr19:27736662..27739367,4	MCF-7	breast:
8	chr11:117787369..117787889-chr19:27738686..27739368,2	K562	blood:
9	chr19:27738249..27739002-chr7:18865984..18866492,2	MCF-7	breast:
10	chr1:121482889..121485426-chr19:27733290..27740540,17	K562	blood:
11	chr19:27731229..27733515-chr19:27737682..27740212,3	MCF-7	breast:
12	chr1:121483890..121484451-chr19:27736926..27737426,2	MCF-7	breast:
13	chr19:27735077..27736730-chr6:26122693..26124685,2	MCF-7	breast:
14	chr1:121484242..121485223-chr19:27739792..27740312,2	MCF-7	breast:
15	chr1:149223688..149224417-chr19:27738499..27739289,2	MCF-7	breast:
16	chr19:27730503..27733214-chr19:27735926..27737745,2	K562	blood:
17	chr1:12392654..12393407-chr19:27738850..27739687,2	MCF-7	breast:
18	chr17:57921146..57922788-chr19:27733727..27736557,3	MCF-7	breast:
19	chr16:31225017..31226858-chr19:27739368..27741281,2	MCF-7	breast:
20	chr19:27739276..27740188-chr3:90489068..90489568,2	MCF-7	breast:
21	chr10:42530126..42531081-chr19:27738662..27739344,3	MCF-7	breast:
22	chr1:121482889..121485426-chr19:27735763..27740540,17	K562	blood:
23	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
24	chr17:57931756..57934704-chr19:27735828..27738481,2	MCF-7	breast:
25	chr10:42530145..42531061-chr19:27738673..27739367,3	MCF-7	breast:
26	chr19:27738271..27739820-chr6:58772163..58774918,2	MCF-7	breast:
27	chr10:42529082..42529941-chr19:27738664..27739193,3	MCF-7	breast:
28	chr10:42528075..42531081-chr19:27735905..27739791,6	MCF-7	breast:
29	chr19:18498589..18499092-chr19:27739098..27739794,2	HCT-116	colon:
30	chr19:27731712..27733212-chr19:27736249..27738480,2	MCF-7	breast:
31	chr16:69363397..69365027-chr19:27738551..27740871,2	MCF-7	breast:
32	chr19:27738271..27740312-chr4:68262912..68265515,2	MCF-7	breast:
33	chr1:121484295..121485024-chr19:27738000..27738548,3	MCF-7	breast:
34	chr1:244228644..244231049-chr19:27736676..27739352,2	MCF-7	breast:
35	chr19:27738500..27739360-chr2:237227769..237228539,2	MCF-7	breast:
36	chr10:42529415..42529944-chr19:27739260..27739782,2	MCF-7	breast:
37	chr13:28193921..28196192-chr19:27738694..27740822,2	MCF-7	breast:
38	chr10:42529442..42530392-chr19:27737662..27738480,2	MCF-7	breast:
39	chr19:27738249..27739165-chr3:64009126..64009721,2	MCF-7	breast:
40	chr19:27736247..27738846-chr8:34200775..34202275,2	MCF-7	breast:
41	chr10:42528106..42531063-chr19:27736683..27739174,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000206737	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000258429	chromatin interactions
ENSG00000139517	chromatin interactions
ENSG00000186184	chromatin interactions
ENSG00000259349	chromatin interactions
ENSG00000062725	chromatin interactions
ENSG00000177238	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000163636	chromatin interactions

Extended variants
information (count: 1223 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:1223 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74199177	chr19:27736393-27736394	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs4089852	chr19:27736400-27736401	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs67440892	chr19:27736404-27736405	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs1917980	chr19:27736411-27736412	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs199915156	chr19:27736419-27736420	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs74220646	chr19:27736420-27736421	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs545173501	chr19:27736421-27736422	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs183695775	chr19:27736427-27736428	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs9629816	chr19:27736430-27736431	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs187971254	chr19:27736431-27736432	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs78207003	chr19:27736443-27736444	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs78428513	chr19:27736445-27736446	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs563376598	chr19:27736450-27736451	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs4567863	chr19:27736453-27736454	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs373388846	chr19:27736457-27736458	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs75448407	chr19:27736461-27736462	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs530685876	chr19:27736465-27736466	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs74218389	chr19:27736467-27736468	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs549217559	chr19:27736468-27736469	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs567417498	chr19:27736471-27736472	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs376729746	chr19:27736481-27736482	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs113125778	chr19:27736482-27736483	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs62136687	chr19:27736485-27736486	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs528413268	chr19:27736489-27736490	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs9710572	chr19:27736496-27736497	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs547457232	chr19:27736499-27736500	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs371463223	chr19:27736502-27736503	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs10048550	chr19:27736507-27736508	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs368802337	chr19:27736509-27736510	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs200493058	chr19:27736518-27736519	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs62136688	chr19:27736521-27736522	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs112234476	chr19:27736531-27736532	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs62136689	chr19:27736532-27736533	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs566105223	chr19:27736534-27736535	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs539541485	chr19:27736539-27736540	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs62136690	chr19:27736540-27736541	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs77671055	chr19:27736542-27736543	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs557783911	chr19:27736547-27736548	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs569824217	chr19:27736548-27736549	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs537220943	chr19:27736550-27736551	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs190620894	chr19:27736551-27736552	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs377381750	chr19:27736553-27736554	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs201046518	chr19:27736555-27736556	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs555956169	chr19:27736556-27736557	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs201842593	chr19:27736558-27736559	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs55837818	chr19:27736559-27736560	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs371378789	chr19:27736568-27736569	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs373365681	chr19:27736571-27736572	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs71255821	chr19:27736578-27736579	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs9676655	chr19:27736581-27736582	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 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:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27731800-27737000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
2	chr19:27731800-27737000	ZNF genes & repeats	Osteobl	bone
3	chr19:27731800-27738600	ZNF genes & repeats	Thymus	Thymus
4	chr19:27731800-27739000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr19:27731800-27739600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
6	chr19:27731800-27739600	ZNF genes & repeats	Brain Hippocampus Middle	brain
7	chr19:27731800-27739600	ZNF genes & repeats	Fetal Intestine Large	intestine
8	chr19:27731800-27739600	ZNF genes & repeats	Ovary	ovary
9	chr19:27731800-27739600	ZNF genes & repeats	Spleen	Spleen
10	chr19:27731800-27739800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:27731800-27739800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
12	chr19:27731800-27739800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
13	chr19:27731800-27739800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:27731800-27739800	ZNF genes & repeats	Fetal Stomach	stomach
15	chr19:27731800-27740000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr19:27731800-27740000	ZNF genes & repeats	Colonic Mucosa	Colon
17	chr19:27731800-27740200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:27731800-27740400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr19:27731800-27740400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:27731800-27740400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:27731800-27740400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:27731800-27740400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
23	chr19:27731800-27740400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
25	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
26	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:27731800-27740400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
28	chr19:27731800-27740400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
29	chr19:27731800-27740400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
30	chr19:27731800-27740400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:27731800-27740400	ZNF genes & repeats	Fetal Heart	heart
32	chr19:27731800-27740400	ZNF genes & repeats	Fetal Lung	lung
33	chr19:27731800-27740400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
34	chr19:27731800-27740400	ZNF genes & repeats	Small Intestine	intestine
35	chr19:27731800-27740400	ZNF genes & repeats	Stomach Mucosa	stomach
36	chr19:27731800-27740600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr19:27731800-27740600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
38	chr19:27731800-27740600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:27731800-27740600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:27731800-27740600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:27731800-27740600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:27731800-27740600	ZNF genes & repeats	Primary B cells from cord blood	blood
43	chr19:27731800-27740600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
46	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:27731800-27740600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:27731800-27740600	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr19:27731800-27740600	ZNF genes & repeats	Liver	Liver
50	chr19:27731800-27740600	ZNF genes & repeats	Brain Angular Gyrus	brain

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