Variant report

Variant	esv3376324
Chromosome Location	chr19:27734712-27738898
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	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
2	chr1:121483138..121485425-chr19:27735007..27739872,9	MCF-7	breast:
3	chr1:121483051..121485429-chr19:27736244..27740196,9	MCF-7	breast:
4	chr19:27735092..27735592-chr4:68265165..68265924,2	MCF-7	breast:
5	chr1:121482889..121485426-chr19:27735763..27740540,17	K562	blood:
6	chr19:27731712..27733212-chr19:27736249..27738480,2	MCF-7	breast:
7	chr19:27736247..27738846-chr8:34200775..34202275,2	MCF-7	breast:
8	chr10:42529082..42529941-chr19:27738664..27739193,3	MCF-7	breast:
9	chr10:42529442..42530392-chr19:27737662..27738480,2	MCF-7	breast:
10	chr1:121483890..121484451-chr19:27736926..27737426,2	MCF-7	breast:
11	chr19:27738500..27739360-chr2:237227769..237228539,2	MCF-7	breast:
12	chr17:57921146..57922788-chr19:27733727..27736557,3	MCF-7	breast:
13	chr1:12392654..12393407-chr19:27738850..27739687,2	MCF-7	breast:
14	chr19:27733264..27735341-chr5:49544077..49545577,2	MCF-7	breast:
15	chr10:42529302..42529920-chr19:27734982..27735519,2	MCF-7	breast:
16	chr10:42527520..42529802-chr19:27732626..27735592,2	K562	blood:
17	chr10:42532112..42532613-chr19:27734969..27735848,2	MCF-7	breast:
18	chr17:58603504..58604171-chr19:27738843..27739764,2	MCF-7	breast:
19	chr1:121482889..121485426-chr19:27733290..27740540,17	K562	blood:
20	chr13:28193921..28196192-chr19:27738694..27740822,2	MCF-7	breast:
21	chr19:27735077..27736730-chr6:26122693..26124685,2	MCF-7	breast:
22	chr11:117787369..117787889-chr19:27738686..27739368,2	K562	blood:
23	chr19:27730503..27733214-chr19:27735926..27737745,2	K562	blood:
24	chr19:27738249..27739165-chr3:64009126..64009721,2	MCF-7	breast:
25	chr17:57931756..57934704-chr19:27735828..27738481,2	MCF-7	breast:
26	chr19:27738271..27740312-chr4:68262912..68265515,2	MCF-7	breast:
27	chr10:42530126..42531081-chr19:27738662..27739344,3	MCF-7	breast:
28	chr19:27731229..27733515-chr19:27737682..27740212,3	MCF-7	breast:
29	chr19:27734776..27735283-chr4:142678250..142679232,2	MCF-7	breast:
30	chr1:121483957..121484819-chr19:27737979..27738502,3	MCF-7	breast:
31	chr1:121484295..121485024-chr19:27738000..27738548,3	MCF-7	breast:
32	chr10:42528075..42531081-chr19:27735905..27739791,6	MCF-7	breast:
33	chr19:27738249..27739002-chr7:18865984..18866492,2	MCF-7	breast:
34	chr10:42528436..42531081-chr19:27736662..27739367,4	MCF-7	breast:
35	chr19:27738271..27739820-chr6:58772163..58774918,2	MCF-7	breast:
36	chr1:149223688..149224417-chr19:27738499..27739289,2	MCF-7	breast:
37	chr16:5710936..5711647-chr19:27738832..27739454,2	MCF-7	breast:
38	chr1:244228644..244231049-chr19:27736676..27739352,2	MCF-7	breast:
39	chr16:69363397..69365027-chr19:27738551..27740871,2	MCF-7	breast:
40	chr10:42530145..42531061-chr19:27738673..27739367,3	MCF-7	breast:
41	chr10:42528106..42531063-chr19:27736683..27739174,2	K562	blood:

No data

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

Extended variants
information (count: 1300 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:1300 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567541347	chr19:27734715-27734716	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs534942603	chr19:27734716-27734717	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs201726818	chr19:27734721-27734722	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs200246587	chr19:27734722-27734723	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs554119345	chr19:27734724-27734725	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs201290739	chr19:27734731-27734732	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs539919758	chr19:27734749-27734750	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs376785622	chr19:27734753-27734754	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs371014219	chr19:27734757-27734758	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs374037643	chr19:27734763-27734764	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs367872017	chr19:27734767-27734768	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs557915596	chr19:27734768-27734769	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs370440223	chr19:27734774-27734775	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs373848975	chr19:27734775-27734776	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs367652320	chr19:27734782-27734783	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs372387871	chr19:27734786-27734787	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs576489008	chr19:27734787-27734788	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs74489975	chr19:27734792-27734793	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs76589327	chr19:27734794-27734795	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs376664539	chr19:27734796-27734797	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs62136128	chr19:27734798-27734799	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs561965508	chr19:27734799-27734800	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs573980967	chr19:27734815-27734816	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs76990888	chr19:27734816-27734817	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs79489202	chr19:27734818-27734819	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs62136129	chr19:27734819-27734820	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs111267000	chr19:27734823-27734824	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs541367442	chr19:27734824-27734825	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs78453160	chr19:27734827-27734828	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs111751852	chr19:27734831-27734832	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs62136130	chr19:27734832-27734833	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs62136131	chr19:27734835-27734836	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs532749447	chr19:27734839-27734840	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs111371398	chr19:27734842-27734843	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs551368555	chr19:27734843-27734844	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs74507453	chr19:27734850-27734851	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs76768742	chr19:27734851-27734852	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs368409815	chr19:27734853-27734854	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs62136132	chr19:27734854-27734855	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs76543648	chr19:27734858-27734859	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs201229412	chr19:27734859-27734860	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs74931495	chr19:27734860-27734861	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs549174971	chr19:27734861-27734862	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs75007055	chr19:27734866-27734867	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs376854996	chr19:27734868-27734869	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs567500885	chr19:27734870-27734871	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs369410578	chr19:27734871-27734872	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs76925028	chr19:27734873-27734874	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs546622247	chr19:27734878-27734879	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs79135922	chr19:27734881-27734882	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	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:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27731800-27734800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:27731800-27734800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:27731800-27734800	ZNF genes & repeats	Esophagus	oesophagus
4	chr19:27731800-27734800	ZNF genes & repeats	Pancreas	Pancrea
5	chr19:27731800-27734800	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
6	chr19:27731800-27734800	ZNF genes & repeats	GM12878-XiMat	blood
7	chr19:27731800-27735000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:27731800-27735000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
9	chr19:27731800-27735000	ZNF genes & repeats	Fetal Brain Female	brain
10	chr19:27731800-27735400	ZNF genes & repeats	Fetal Thymus	thymus
11	chr19:27731800-27736200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr19:27731800-27737000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:27731800-27737000	ZNF genes & repeats	Osteobl	bone
14	chr19:27731800-27738600	ZNF genes & repeats	Thymus	Thymus
15	chr19:27731800-27739000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr19:27731800-27739600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
17	chr19:27731800-27739600	ZNF genes & repeats	Brain Hippocampus Middle	brain
18	chr19:27731800-27739600	ZNF genes & repeats	Fetal Intestine Large	intestine
19	chr19:27731800-27739600	ZNF genes & repeats	Ovary	ovary
20	chr19:27731800-27739600	ZNF genes & repeats	Spleen	Spleen
21	chr19:27731800-27739800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:27731800-27739800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
23	chr19:27731800-27739800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
24	chr19:27731800-27739800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:27731800-27739800	ZNF genes & repeats	Fetal Stomach	stomach
26	chr19:27731800-27740000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
27	chr19:27731800-27740000	ZNF genes & repeats	Colonic Mucosa	Colon
28	chr19:27731800-27740200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:27731800-27740400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr19:27731800-27740400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:27731800-27740400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:27731800-27740400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:27731800-27740400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
34	chr19:27731800-27740400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
36	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
37	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
38	chr19:27731800-27740400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
39	chr19:27731800-27740400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
40	chr19:27731800-27740400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
41	chr19:27731800-27740400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
42	chr19:27731800-27740400	ZNF genes & repeats	Fetal Heart	heart
43	chr19:27731800-27740400	ZNF genes & repeats	Fetal Lung	lung
44	chr19:27731800-27740400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
45	chr19:27731800-27740400	ZNF genes & repeats	Small Intestine	intestine
46	chr19:27731800-27740400	ZNF genes & repeats	Stomach Mucosa	stomach
47	chr19:27731800-27740600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
48	chr19:27731800-27740600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
49	chr19:27731800-27740600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:27731800-27740600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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