Variant report

Variant	esv3388005
Chromosome Location	chr19:27737727-27756246
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 3001 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:3001 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369376789	chr19:27737732-27737733	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs373311271	chr19:27737733-27737734	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs529011577	chr19:27737738-27737739	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs62136716	chr19:27737741-27737742	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs77803063	chr19:27737748-27737749	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs79665325	chr19:27737751-27737752	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs547258666	chr19:27737760-27737761	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs74200888	chr19:27737766-27737767	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs565922777	chr19:27737771-27737772	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs533164629	chr19:27737775-27737776	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs374328109	chr19:27737777-27737778	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs78653538	chr19:27737779-27737780	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs551662538	chr19:27737780-27737781	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs569983151	chr19:27737782-27737783	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs76875322	chr19:27737786-27737787	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs537824447	chr19:27737788-27737789	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs147936095	chr19:27737789-27737790	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs74192369	chr19:27737791-27737792	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs150190144	chr19:27737792-27737793	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs568448997	chr19:27737793-27737794	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs535988332	chr19:27737794-27737795	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs71193731	chr19:27737799-27737800	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs74210693	chr19:27737800-27737801	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs74844813	chr19:27737804-27737805	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs554072961	chr19:27737807-27737808	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs368916408	chr19:27737809-27737810	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs376224785	chr19:27737811-27737812	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs370193109	chr19:27737815-27737816	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs375446350	chr19:27737817-27737818	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs141699289	chr19:27737821-27737822	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs79429004	chr19:27737823-27737824	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs139448304	chr19:27737825-27737826	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs374481078	chr19:27737827-27737828	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs77766494	chr19:27737830-27737831	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs147703526	chr19:27737832-27737833	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs377694288	chr19:27737836-27737837	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs543028705	chr19:27737837-27737838	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs561757054	chr19:27737839-27737840	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs143250811	chr19:27737841-27737842	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs77706017	chr19:27737842-27737843	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs371226582	chr19:27737843-27737844	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs148613949	chr19:27737844-27737845	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs145589961	chr19:27737850-27737851	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs76068863	chr19:27737851-27737852	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs74382231	chr19:27737854-27737855	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs9989640	chr19:27737857-27737858	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs528971196	chr19:27737859-27737860	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs76489287	chr19:27737860-27737861	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs148941677	chr19:27737861-27737862	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs79492569	chr19:27737862-27737863	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	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:215 , 50 per page) page: 1 2 3 4 5

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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