Variant report

Variant	esv3356110
Chromosome Location	chr19:27899677-28212814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:450)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:27907624-27907648	K562	blood:	n/a	n/a
2	BACH1	chr19:27941380-27941399	K562	blood:	n/a	n/a
3	BACH1	chr19:28105728-28106101	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr19:27902669-27902979	GM12878	blood:	n/a	n/a
5	BATF	chr19:27904673-27904894	GM12878	blood:	n/a	n/a
6	BATF	chr19:27902659-27902917	GM12878	blood:	n/a	n/a
7	BCL11A	chr19:27902643-27903061	GM12878	blood:	n/a	n/a
8	BCL11A	chr19:27902664-27902911	GM12878	blood:	n/a	n/a
9	BHLHE40	chr19:27902737-27903075	HepG2	liver:	n/a	n/a
10	BHLHE40	chr19:27941379-27941405	K562	blood:	n/a	n/a
11	BHLHE40	chr19:28045061-28045262	K562	blood:	n/a	n/a
12	CEBPB	chr19:28094179-28094207	A549	lung:	n/a	n/a
13	CEBPB	chr19:28045063-28045091	K562	blood:	n/a	n/a
14	CEBPB	chr19:28107310-28107327	A549	lung:	n/a	n/a
15	CEBPD	chr19:27966921-27967304	K562	blood:	n/a	n/a
16	CHD2	chr19:27907624-27907648	K562	blood:	n/a	n/a
17	CHD2	chr19:28045063-28045088	K562	blood:	n/a	n/a
18	CHD2	chr19:27941378-27941403	K562	blood:	n/a	n/a
19	CTCF	chr19:28210365-28210421	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr19:28136429-28136505	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr19:28198272-28198369	GM20000	blood:	n/a	n/a
22	CTCF	chr19:28136540-28136690	HEK293	kidney:	n/a	n/a
23	CTCF	chr19:27906156-27906348	K562	blood:	n/a	n/a
24	CTCF	chr19:28136431-28136546	MCF-7	breast:	n/a	n/a
25	CTCF	chr19:27931853-27932097	K562	blood:	n/a	n/a
26	CTCF	chr19:27941379-27941404	K562	blood:	n/a	n/a
27	CTCF	chr19:28093590-28093638	ProgFib	skin:	n/a	n/a
28	CTCF	chr19:28136463-28136465	MCF-7	breast:	n/a	n/a
29	CTCF	chr19:28093745-28093795	GM10248	blood:	n/a	n/a
30	CTCF	chr19:28089885-28090008	Lung_OC	lung:	n/a	n/a
31	CTCF	chr19:28136425-28136558	MCF-7	breast:	n/a	n/a
32	CTCF	chr19:28136248-28136612	K562	blood:	n/a	n/a
33	CTCF	chr19:28136419-28136561	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr19:28134029-28134242	A549	lung:	n/a	n/a
35	CTCF	chr19:28136395-28136472	LNCaP	prostate:	n/a	n/a
36	CTCF	chr19:28136467-28136522	MCF-7	breast:	n/a	n/a
37	CTCF	chr19:27902722-27902913	K562	blood:	n/a	n/a
38	CTCF	chr19:28136399-28136481	LNCaP	prostate:	n/a	n/a
39	CTCF	chr19:28072383-28072453	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr19:28134100-28134242	A549	lung:	n/a	n/a
41	CTCF	chr19:28136460-28136610	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr19:28070959-28071021	GM13976	blood:	n/a	n/a
43	CTCF	chr19:28136425-28136554	MCF-7	breast:	n/a	n/a
44	CTCF	chr19:28201100-28201250	GM06990	blood:	n/a	n/a
45	CTCF	chr19:28136439-28136535	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr19:28136267-28136730	K562	blood:	n/a	n/a
47	CTCF	chr19:28136306-28136609	K562	blood:	n/a	n/a
48	CUX1	chr19:27907625-27907648	K562	blood:	n/a	n/a
49	CUX1	chr19:27941380-27941404	K562	blood:	n/a	n/a
50	CUX1	chr19:28045060-28045260	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:28208145..28210967-chr19:28212506..28214269,2	K562	blood:
2	chr19:28208145..28210967-chr19:28212506..28214269,2	K562	blood:
3	chr19:27920492..27922596-chr19:29749954..29752655,2	K562	blood:
4	chr19:27961286..27961807-chr8:46850621..46851139,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UQCRFS1-9	chr19:28192225-28192553	NONHSAT063963
2	lnc-UQCRFS1-9	chr19:28206069-28206766	XLOC_013282
3	lnc-UQCRFS1-9	chr19:28192399-28192553	ENSG00000261824.2
4	lnc-UQCRFS1-9	chr19:28175488-28175515	ENSG00000261824.2

No data

Variant related genes	Relation type
ENSG00000267696	TF binding region

Extended variants
information (count: 14560 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:14560 , 50 per page) page: 1 2 3 4 5 6 7 ... 292

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200924657	chr19:27899681-27899682	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs199654657	chr19:27899687-27899688	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs200825078	chr19:27899688-27899689	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs112242247	chr19:27899692-27899693	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
5	rs562282100	chr19:27899699-27899700	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs113218253	chr19:27899702-27899703	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs111878342	chr19:27899703-27899704	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs200310647	chr19:27899705-27899706	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs529737822	chr19:27899709-27899710	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs541651867	chr19:27899717-27899718	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs375993222	chr19:27899734-27899735	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs143882058	chr19:27899737-27899738	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs527449704	chr19:27899753-27899754	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs112594735	chr19:27899764-27899765	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs76367659	chr19:27899777-27899778	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs77804278	chr19:27899778-27899779	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs74545613	chr19:27899784-27899785	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs569279254	chr19:27899792-27899793	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs371677871	chr19:27899832-27899833	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs189340834	chr19:27899838-27899839	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs373695745	chr19:27899862-27899863	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs146670596	chr19:27899871-27899872	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs377464650	chr19:27899884-27899885	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs150165808	chr19:27899885-27899886	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs550692047	chr19:27899895-27899896	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs566769086	chr19:27899897-27899898	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs569400585	chr19:27899926-27899927	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs529085184	chr19:27899932-27899933	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs555063190	chr19:27899935-27899936	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs201648388	chr19:27899962-27899963	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs148220957	chr19:27899963-27899964	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs139057357	chr19:27899966-27899967	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs567091013	chr19:27899982-27899983	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs113314675	chr19:27900007-27900008	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs111980972	chr19:27900016-27900017	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs113794693	chr19:27900038-27900039	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs534086300	chr19:27900039-27900040	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs77512260	chr19:27900057-27900058	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs78460016	chr19:27900059-27900060	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs77695131	chr19:27900067-27900068	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs532510321	chr19:27900094-27900095	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs559211243	chr19:27900108-27900109	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs112077863	chr19:27900116-27900117	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs200574659	chr19:27900121-27900122	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs552304278	chr19:27900156-27900157	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs566093009	chr19:27900163-27900164	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs73020594	chr19:27900179-27900180	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs548739473	chr19:27900195-27900196	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs113334872	chr19:27900199-27900200	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs189972915	chr19:27900200-27900201	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27883400-27909000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr19:27893800-27909000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr19:27895000-27902400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr19:27897000-27902800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr19:27897200-27901800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:27897800-27901400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:27897800-27901400	Weak transcription	HUVEC	blood vessel
8	chr19:27897800-27906200	Weak transcription	Colon Smooth Muscle	Colon
9	chr19:27901400-27901800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:27901400-27901800	ZNF genes & repeats	HUVEC	blood vessel
11	chr19:27901600-27901800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr19:27901600-27901800	ZNF genes & repeats	Brain Substantia Nigra	brain
13	chr19:27901600-27901800	ZNF genes & repeats	HSMMtube	muscle
14	chr19:27901800-27902600	Weak transcription	HUVEC	blood vessel
15	chr19:27901800-27902800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:27902600-27903800	ZNF genes & repeats	HUVEC	blood vessel
17	chr19:27902800-27903000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:27902800-27903000	Active TSS	Aorta	Aorta
19	chr19:27903000-27906200	Weak transcription	Aorta	Aorta
20	chr19:27904000-27908000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
21	chr19:27905200-27907600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr19:27905800-27906200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr19:27906000-27908000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr19:27906200-27906400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
25	chr19:27906200-27906400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
26	chr19:27906200-27906400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:27906200-27906400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
28	chr19:27906200-27906400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:27906200-27906400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:27906200-27906400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
31	chr19:27906200-27906400	ZNF genes & repeats	Aorta	Aorta
32	chr19:27906200-27906400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
33	chr19:27906200-27906400	ZNF genes & repeats	Brain Substantia Nigra	brain
34	chr19:27906200-27906400	ZNF genes & repeats	Colon Smooth Muscle	Colon
35	chr19:27906200-27906400	ZNF genes & repeats	Fetal Brain Male	brain
36	chr19:27906200-27906400	ZNF genes & repeats	Fetal Kidney	kidney
37	chr19:27906200-27906400	ZNF genes & repeats	Fetal Lung	lung
38	chr19:27906200-27906400	ZNF genes & repeats	Left Ventricle	heart
39	chr19:27906200-27906400	ZNF genes & repeats	Small Intestine	intestine
40	chr19:27906200-27906400	ZNF genes & repeats	Stomach Mucosa	stomach
41	chr19:27906200-27906600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr19:27906200-27906600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr19:27906200-27906600	ZNF genes & repeats	Liver	Liver
44	chr19:27906200-27906600	ZNF genes & repeats	Brain Hippocampus Middle	brain
45	chr19:27906200-27906600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
46	chr19:27906200-27906600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
47	chr19:27906200-27906800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:27906200-27907800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
49	chr19:27906200-27907800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
50	chr19:27906200-27907800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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