Variant report

Variant	nsv911538
Chromosome Location	chr19:27884796-28200288
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:562)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:562 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:27941380-27941399	K562	blood:	n/a	n/a
2	BACH1	chr19:27888281-27888308	K562	blood:	n/a	n/a
3	BACH1	chr19:27907624-27907648	K562	blood:	n/a	n/a
4	BACH1	chr19:28105728-28106101	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr19:27899139-27899310	GM12878	blood:	n/a	n/a
6	BATF	chr19:27897158-27897472	GM12878	blood:	n/a	n/a
7	BATF	chr19:27897153-27897445	GM12878	blood:	n/a	n/a
8	BATF	chr19:27902669-27902979	GM12878	blood:	n/a	n/a
9	BATF	chr19:27904673-27904894	GM12878	blood:	n/a	n/a
10	BATF	chr19:27902659-27902917	GM12878	blood:	n/a	n/a
11	BATF	chr19:27899029-27899326	GM12878	blood:	n/a	n/a
12	BCL11A	chr19:27899071-27899250	GM12878	blood:	n/a	n/a
13	BCL11A	chr19:27902664-27902911	GM12878	blood:	n/a	n/a
14	BCL11A	chr19:27902643-27903061	GM12878	blood:	n/a	n/a
15	BCL11A	chr19:27897169-27897439	GM12878	blood:	n/a	n/a
16	BCL11A	chr19:27897065-27897511	GM12878	blood:	n/a	n/a
17	BHLHE40	chr19:28045061-28045262	K562	blood:	n/a	n/a
18	BHLHE40	chr19:27902737-27903075	HepG2	liver:	n/a	n/a
19	BHLHE40	chr19:27888282-27888307	K562	blood:	n/a	n/a
20	BHLHE40	chr19:27899027-27899261	HepG2	liver:	n/a	n/a
21	BHLHE40	chr19:27897163-27897361	HepG2	liver:	n/a	n/a
22	BHLHE40	chr19:27895230-27895399	HepG2	liver:	n/a	n/a
23	BHLHE40	chr19:27941379-27941405	K562	blood:	n/a	n/a
24	CEBPB	chr19:28045063-28045091	K562	blood:	n/a	n/a
25	CEBPB	chr19:28094179-28094207	A549	lung:	n/a	n/a
26	CEBPB	chr19:28107310-28107327	A549	lung:	n/a	n/a
27	CEBPD	chr19:27890095-27890434	K562	blood:	n/a	n/a
28	CEBPD	chr19:27966921-27967304	K562	blood:	n/a	n/a
29	CHD2	chr19:27907624-27907648	K562	blood:	n/a	n/a
30	CHD2	chr19:27888282-27888307	K562	blood:	n/a	n/a
31	CHD2	chr19:28045063-28045088	K562	blood:	n/a	n/a
32	CHD2	chr19:27941378-27941403	K562	blood:	n/a	n/a
33	CTCF	chr19:28136395-28136472	LNCaP	prostate:	n/a	n/a
34	CTCF	chr19:28198272-28198369	GM20000	blood:	n/a	n/a
35	CTCF	chr19:28136419-28136561	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr19:28136248-28136612	K562	blood:	n/a	n/a
37	CTCF	chr19:28089885-28090008	Lung_OC	lung:	n/a	n/a
38	CTCF	chr19:27889969-27890360	K562	blood:	n/a	n/a
39	CTCF	chr19:27890606-27890759	K562	blood:	n/a	n/a
40	CTCF	chr19:28136463-28136465	MCF-7	breast:	n/a	n/a
41	CTCF	chr19:28136439-28136535	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr19:28134100-28134242	A549	lung:	n/a	n/a
43	CTCF	chr19:28136460-28136610	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr19:28134029-28134242	A549	lung:	n/a	n/a
45	CTCF	chr19:27897196-27897422	K562	blood:	n/a	n/a
46	CTCF	chr19:27906156-27906348	K562	blood:	n/a	n/a
47	CTCF	chr19:28136425-28136554	MCF-7	breast:	n/a	n/a
48	CTCF	chr19:28072383-28072453	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr19:28070959-28071021	GM13976	blood:	n/a	n/a
50	CTCF	chr19:28093590-28093638	ProgFib	skin:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:27961286..27961807-chr8:46850621..46851139,2	MCF-7	breast:
2	chr19:27920492..27922596-chr19:29749954..29752655,2	K562	blood:

(count:3 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000267696	TF binding region

Extended variants
information (count: 15787 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:15787 , 50 per page) page: 1 2 3 4 5 6 7 ... 316

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111555339	chr19:27884801-27884802	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs556037457	chr19:27884815-27884816	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs574433128	chr19:27884837-27884838	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs541720156	chr19:27884845-27884846	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs560974458	chr19:27884848-27884849	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs111301399	chr19:27884853-27884854	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs201969386	chr19:27884862-27884863	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs540203930	chr19:27884887-27884888	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs565403131	chr19:27884931-27884932	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs532456600	chr19:27884944-27884945	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs551165316	chr19:27884960-27884961	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs2407341	chr19:27884968-27884969	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs372423823	chr19:27884993-27884994	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs2407342	chr19:27884994-27884995	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs79785954	chr19:27885005-27885006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs57019403	chr19:27885006-27885007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs2407343	chr19:27885023-27885024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs78547557	chr19:27885024-27885025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs373114848	chr19:27885046-27885047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs376514755	chr19:27885054-27885055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs2407344	chr19:27885060-27885061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs141273438	chr19:27885065-27885066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs2407345	chr19:27885085-27885086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs548874871	chr19:27885092-27885093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs2407346	chr19:27885095-27885096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs566506111	chr19:27885100-27885101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs533784533	chr19:27885104-27885105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs558238924	chr19:27885119-27885120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs570529255	chr19:27885138-27885139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs73529080	chr19:27885140-27885141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs74760153	chr19:27885152-27885153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs537502033	chr19:27885155-27885156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs2407347	chr19:27885165-27885166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs2407348	chr19:27885172-27885173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs187188866	chr19:27885179-27885180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs2407349	chr19:27885189-27885190	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs191426869	chr19:27885190-27885191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs2407350	chr19:27885196-27885197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs183513375	chr19:27885206-27885207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs556371915	chr19:27885208-27885209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs189415630	chr19:27885226-27885227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs80205047	chr19:27885277-27885278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs574271697	chr19:27885313-27885314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs541756916	chr19:27885345-27885346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs553667200	chr19:27885358-27885359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs76433142	chr19:27885359-27885360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs79345962	chr19:27885383-27885384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs571984124	chr19:27885408-27885409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs2897649	chr19:27885412-27885413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs191257491	chr19:27885424-27885425	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:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27864600-27890200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr19:27864600-27890200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr19:27867000-27892000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:27867200-27886200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr19:27882400-27884800	ZNF genes & repeats	Liver	Liver
6	chr19:27883000-27885400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr19:27883400-27909000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr19:27884000-27885000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:27884400-27884800	Active TSS	Aorta	Aorta
10	chr19:27886200-27887400	ZNF genes & repeats	Liver	Liver
11	chr19:27886600-27886800	ZNF genes & repeats	HepG2	liver
12	chr19:27888400-27893800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr19:27889600-27890400	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr19:27893800-27909000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr19:27895000-27902400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr19:27895200-27896200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:27895800-27896200	ZNF genes & repeats	Colon Smooth Muscle	Colon
18	chr19:27896200-27897400	Weak transcription	Colon Smooth Muscle	Colon
19	chr19:27897000-27902800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr19:27897200-27901800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:27897400-27897800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr19:27897400-27897800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr19:27897400-27897800	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr19:27897400-27897800	ZNF genes & repeats	Colon Smooth Muscle	Colon
25	chr19:27897400-27897800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr19:27897400-27897800	ZNF genes & repeats	Fetal Brain Male	brain
27	chr19:27897400-27897800	ZNF genes & repeats	Fetal Heart	heart
28	chr19:27897400-27897800	ZNF genes & repeats	Gastric	stomach
29	chr19:27897400-27898000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr19:27897600-27897800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
31	chr19:27897600-27897800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:27897600-27897800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
33	chr19:27897600-27897800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:27897600-27897800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
35	chr19:27897600-27897800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
36	chr19:27897600-27897800	ZNF genes & repeats	Brain Angular Gyrus	brain
37	chr19:27897600-27897800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
38	chr19:27897600-27897800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
39	chr19:27897600-27897800	ZNF genes & repeats	Brain Substantia Nigra	brain
40	chr19:27897600-27897800	ZNF genes & repeats	Fetal Kidney	kidney
41	chr19:27897600-27897800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
42	chr19:27897600-27897800	ZNF genes & repeats	HUVEC	blood vessel
43	chr19:27897800-27898000	Weak transcription	Aorta	Aorta
44	chr19:27897800-27901400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:27897800-27901400	Weak transcription	HUVEC	blood vessel
46	chr19:27897800-27906200	Weak transcription	Colon Smooth Muscle	Colon
47	chr19:27901400-27901800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:27901400-27901800	ZNF genes & repeats	HUVEC	blood vessel
49	chr19:27901600-27901800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
50	chr19:27901600-27901800	ZNF genes & repeats	Brain Substantia Nigra	brain

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