Variant report

Variant	esv3450472
Chromosome Location	chr19:27735364-27739210
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	chr10:42527520..42529802-chr19:27732626..27735592,2	K562	blood:
2	chr1:121483890..121484451-chr19:27736926..27737426,2	MCF-7	breast:
3	chr19:18498589..18499092-chr19:27739098..27739794,2	HCT-116	colon:
4	chr17:58603504..58604171-chr19:27738843..27739764,2	MCF-7	breast:
5	chr1:121483051..121485429-chr19:27736244..27740196,9	MCF-7	breast:
6	chr19:27731229..27733515-chr19:27737682..27740212,3	MCF-7	breast:
7	chr10:42530126..42531081-chr19:27738662..27739344,3	MCF-7	breast:
8	chr19:27738271..27740312-chr4:68262912..68265515,2	MCF-7	breast:
9	chr1:121483138..121485425-chr19:27735007..27739872,9	MCF-7	breast:
10	chr13:28193921..28196192-chr19:27738694..27740822,2	MCF-7	breast:
11	chr17:57921146..57922788-chr19:27733727..27736557,3	MCF-7	breast:
12	chr10:42529442..42530392-chr19:27737662..27738480,2	MCF-7	breast:
13	chr17:57931756..57934704-chr19:27735828..27738481,2	MCF-7	breast:
14	chr16:5710936..5711647-chr19:27738832..27739454,2	MCF-7	breast:
15	chr19:27738249..27739002-chr7:18865984..18866492,2	MCF-7	breast:
16	chr10:42528106..42531063-chr19:27736683..27739174,2	K562	blood:
17	chr1:244228644..244231049-chr19:27736676..27739352,2	MCF-7	breast:
18	chr10:42529302..42529920-chr19:27734982..27735519,2	MCF-7	breast:
19	chr10:42529082..42529941-chr19:27738664..27739193,3	MCF-7	breast:
20	chr19:27735077..27736730-chr6:26122693..26124685,2	MCF-7	breast:
21	chr16:69363397..69365027-chr19:27738551..27740871,2	MCF-7	breast:
22	chr18:60172493..60172994-chr19:27739182..27739818,2	MCF-7	breast:
23	chr19:27731712..27733212-chr19:27736249..27738480,2	MCF-7	breast:
24	chr1:121482889..121485426-chr19:27733290..27740540,17	K562	blood:
25	chr1:121482889..121485426-chr19:27735763..27740540,17	K562	blood:
26	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
27	chr19:27738500..27739360-chr2:237227769..237228539,2	MCF-7	breast:
28	chr10:42532112..42532613-chr19:27734969..27735848,2	MCF-7	breast:
29	chr10:42530145..42531061-chr19:27738673..27739367,3	MCF-7	breast:
30	chr10:42528075..42531081-chr19:27735905..27739791,6	MCF-7	breast:
31	chr1:12392654..12393407-chr19:27738850..27739687,2	MCF-7	breast:
32	chr11:117787369..117787889-chr19:27738686..27739368,2	K562	blood:
33	chr19:27735092..27735592-chr4:68265165..68265924,2	MCF-7	breast:
34	chr19:27736247..27738846-chr8:34200775..34202275,2	MCF-7	breast:
35	chr19:27738271..27739820-chr6:58772163..58774918,2	MCF-7	breast:
36	chr19:27730503..27733214-chr19:27735926..27737745,2	K562	blood:
37	chr19:27738249..27739165-chr3:64009126..64009721,2	MCF-7	breast:
38	chr1:121483957..121484819-chr19:27737979..27738502,3	MCF-7	breast:
39	chr1:121484295..121485024-chr19:27738000..27738548,3	MCF-7	breast:
40	chr1:149223688..149224417-chr19:27738499..27739289,2	MCF-7	breast:
41	chr10:42528436..42531081-chr19:27736662..27739367,4	MCF-7	breast:

No data

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

Extended variants
information (count: 1219 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:1219 , 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	rs62136142	chr19:27735370-27735371	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs200167268	chr19:27735373-27735374	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs540356718	chr19:27735375-27735376	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs78093538	chr19:27735377-27735378	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs200665325	chr19:27735378-27735379	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs532289022	chr19:27735383-27735384	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs78148923	chr19:27735384-27735385	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs544012016	chr19:27735388-27735389	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs113529916	chr19:27735389-27735390	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs562409034	chr19:27735390-27735391	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs77516447	chr19:27735392-27735393	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs79858166	chr19:27735393-27735394	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs200238656	chr19:27735411-27735412	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs529962275	chr19:27735412-27735413	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs374924820	chr19:27735414-27735415	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs548946253	chr19:27735415-27735416	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs143727370	chr19:27735417-27735418	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs532809362	chr19:27735421-27735422	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs183643613	chr19:27735423-27735424	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs62136143	chr19:27735424-27735425	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs370206804	chr19:27735425-27735426	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs202219862	chr19:27735429-27735430	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs112204610	chr19:27735445-27735446	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs142514215	chr19:27735446-27735447	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs147952202	chr19:27735452-27735453	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs571650276	chr19:27735453-27735454	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs143245650	chr19:27735454-27735455	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs150759765	chr19:27735455-27735456	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs74188674	chr19:27735456-27735457	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs77196495	chr19:27735457-27735458	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs74968801	chr19:27735459-27735460	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs76157498	chr19:27735462-27735463	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs539179930	chr19:27735464-27735465	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs551211975	chr19:27735465-27735466	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs77953488	chr19:27735466-27735467	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs569542767	chr19:27735467-27735468	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs62136144	chr19:27735470-27735471	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs78582122	chr19:27735482-27735483	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs554587802	chr19:27735485-27735486	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs76538677	chr19:27735498-27735499	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs75596064	chr19:27735500-27735501	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs533557055	chr19:27735506-27735507	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs62136145	chr19:27735507-27735508	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs576881473	chr19:27735510-27735511	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs76921724	chr19:27735511-27735512	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs543978644	chr19:27735523-27735524	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs562374159	chr19:27735524-27735525	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs574378014	chr19:27735529-27735530	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs541765032	chr19:27735530-27735531	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs79131987	chr19:27735532-27735533	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active 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:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27731800-27735400	ZNF genes & repeats	Fetal Thymus	thymus
2	chr19:27731800-27736200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
3	chr19:27731800-27737000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:27731800-27737000	ZNF genes & repeats	Osteobl	bone
5	chr19:27731800-27738600	ZNF genes & repeats	Thymus	Thymus
6	chr19:27731800-27739000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:27731800-27739600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
8	chr19:27731800-27739600	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr19:27731800-27739600	ZNF genes & repeats	Fetal Intestine Large	intestine
10	chr19:27731800-27739600	ZNF genes & repeats	Ovary	ovary
11	chr19:27731800-27739600	ZNF genes & repeats	Spleen	Spleen
12	chr19:27731800-27739800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:27731800-27739800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
14	chr19:27731800-27739800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
15	chr19:27731800-27739800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:27731800-27739800	ZNF genes & repeats	Fetal Stomach	stomach
17	chr19:27731800-27740000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
18	chr19:27731800-27740000	ZNF genes & repeats	Colonic Mucosa	Colon
19	chr19:27731800-27740200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:27731800-27740400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr19:27731800-27740400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:27731800-27740400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:27731800-27740400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:27731800-27740400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
25	chr19:27731800-27740400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
27	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
28	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
29	chr19:27731800-27740400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
30	chr19:27731800-27740400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
31	chr19:27731800-27740400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
32	chr19:27731800-27740400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:27731800-27740400	ZNF genes & repeats	Fetal Heart	heart
34	chr19:27731800-27740400	ZNF genes & repeats	Fetal Lung	lung
35	chr19:27731800-27740400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
36	chr19:27731800-27740400	ZNF genes & repeats	Small Intestine	intestine
37	chr19:27731800-27740400	ZNF genes & repeats	Stomach Mucosa	stomach
38	chr19:27731800-27740600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr19:27731800-27740600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
40	chr19:27731800-27740600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr19:27731800-27740600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr19:27731800-27740600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:27731800-27740600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:27731800-27740600	ZNF genes & repeats	Primary B cells from cord blood	blood
45	chr19:27731800-27740600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
47	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
48	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:27731800-27740600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:27731800-27740600	ZNF genes & repeats	Adipose Nuclei	Adipose

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