Variant report

Variant	nsv1066451
Chromosome Location	chr19:35849481-35866789
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:259)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:35865850-35866169	K562	blood:	n/a	n/a
2	ATF1	chr19:35865921-35866194	K562	blood:	n/a	n/a
3	ATF3	chr19:35865963-35866126	K562	blood:	n/a	n/a
4	ATF3	chr19:35865822-35866257	K562	blood:	n/a	n/a
5	BACH1	chr19:35851866-35852079	K562	blood:	n/a	n/a
6	BHLHE40	chr19:35865989-35866016	GM12878	blood:	n/a	n/a
7	BHLHE40	chr19:35865883-35866242	K562	blood:	n/a	n/a
8	CBX3	chr19:35865901-35866279	K562	blood:	n/a	n/a
9	CEBPB	chr19:35864457-35864718	HepG2	liver:	n/a	n/a
10	CEBPB	chr19:35861320-35861547	K562	blood:	n/a	chr19:35861400-35861411
11	CEBPB	chr19:35861291-35861545	IMR90	lung:	n/a	chr19:35861400-35861411
12	CEBPB	chr19:35861294-35861521	HepG2	liver:	n/a	chr19:35861400-35861411
13	CEBPB	chr19:35864499-35864730	K562	blood:	n/a	n/a
14	CEBPB	chr19:35861266-35861524	A549	lung:	n/a	chr19:35861400-35861411
15	CTCF	chr19:35849780-35849930	HEK293	kidney:	n/a	n/a
16	CTCF	chr19:35849820-35849970	GM12868	blood:	n/a	n/a
17	CTCF	chr19:35862323-35862373	GM20000	blood:	n/a	n/a
18	CTCF	chr19:35849891-35850044	NHEK	skin:	n/a	n/a
19	CTCF	chr19:35849748-35850042	K562	blood:	n/a	n/a
20	CTCF	chr19:35849793-35850088	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr19:35849800-35849950	GM12867	blood:	n/a	n/a
22	CTCF	chr19:35849840-35849990	GM12866	blood:	n/a	n/a
23	CTCF	chr19:35849796-35850090	GM12891	blood:	n/a	n/a
24	CTCF	chr19:35849861-35850024	ProgFib	skin:	n/a	n/a
25	CTCF	chr19:35849856-35850054	Gliobla	brain:	n/a	n/a
26	CTCF	chr19:35849882-35849979	MCF-7	breast:	n/a	n/a
27	CTCF	chr19:35849817-35850032	GM20000	blood:	n/a	n/a
28	CTCF	chr19:35849907-35849974	MCF-7	breast:	n/a	n/a
29	CTCF	chr19:35849884-35850011	GM13976	blood:	n/a	n/a
30	CTCF	chr19:35862400-35862454	GM20000	blood:	n/a	n/a
31	CTCF	chr19:35849940-35850021	MCF-7	breast:	n/a	n/a
32	CTCF	chr19:35849830-35850062	GM12892	blood:	n/a	n/a
33	CTCF	chr19:35862524-35862566	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr19:35850172-35850235	GM12891	blood:	n/a	n/a
35	CTCF	chr19:35849682-35849801	Lung_OC	lung:	n/a	n/a
36	CTCF	chr19:35862313-35862536	GM19240	blood:	n/a	n/a
37	CTCF	chr19:35862354-35862464	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr19:35849840-35849990	GM12868	blood:	n/a	n/a
39	CTCF	chr19:35849862-35850049	Fibrobl	skin:	n/a	n/a
40	CTCF	chr19:35862431-35862518	GM13976	blood:	n/a	n/a
41	CTCF	chr19:35849760-35849910	GM12874	blood:	n/a	n/a
42	CTCF	chr19:35862100-35862172	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr19:35849627-35849703	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr19:35849870-35850050	GM12878	blood:	n/a	n/a
45	CTCF	chr19:35862259-35862545	GM12891	blood:	n/a	n/a
46	CTCF	chr19:35849840-35849990	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr19:35862387-35862486	MCF-7	breast:	n/a	n/a
48	CTCF	chr19:35849874-35849999	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr19:35849857-35850020	GM10248	blood:	n/a	n/a
50	CTCF	chr19:35862244-35862528	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:35861862-35861912	BE2_C	brain:	n/a
2	chr19:35861862-35861912	HCM	heart:	n/a
3	chr19:35850463-35850513	AG09309	skin:	n/a
4	chr19:35861862-35861912	SK-N-SH_RA	brain:	n/a
5	chr19:35861862-35861912	SK-N-MC	brain:	n/a
6	chr19:35850463-35850513	HEK293	kidney:	embryo
7	chr19:35850463-35850513	HAEpiC	amniotic membrane:	n/a
8	chr19:35850463-35850513	K562	blood:	n/a
9	chr19:35850463-35850513	NB4	blood:	n/a
10	chr19:35850463-35850513	GM12891	blood:	n/a
11	chr19:35861862-35861912	LNCaP	prostate:	n/a
12	chr19:35850463-35850513	Caco-2	colon:	n/a
13	chr19:35850463-35850513	PANC-1	pancreas:	n/a
14	chr19:35850463-35850513	NHDF-neo	bronchial:	n/a
15	chr19:35861862-35861912	H1-hESC	embryonic stem cell:	embryo
16	chr19:35850463-35850513	MCF-7	breast:	n/a
17	chr19:35861862-35861912	SKMC	muscle:	n/a
18	chr19:35850463-35850513	AG10803	skin:	n/a
19	chr19:35850463-35850513	NHBE	bronchial:	n/a
20	chr19:35861862-35861912	SK-N-SH	brain:	n/a
21	chr19:35861862-35861912	HPAEpiC	pulmonary alveolar:	n/a
22	chr19:35861862-35861912	HUVEC	blood vessel:	n/a
23	chr19:35850463-35850513	Jurkat	blood:	n/a
24	chr19:35850463-35850513	SK-N-SH	brain:	n/a
25	chr19:35861862-35861912	U87	brain:	n/a
26	chr19:35861862-35861912	HRE	kidney:	n/a
27	chr19:35861862-35861912	AG04450	lung:	fetal
28	chr19:35850463-35850513	PrEC	prostate:	n/a
29	chr19:35861862-35861912	PFSK-1	brain:	n/a
30	chr19:35850463-35850513	T-47D	breast:	n/a
31	chr19:35850463-35850513	RPTEC	kidney:	n/a
32	chr19:35861862-35861912	PANC-1	pancreas:	n/a
33	chr19:35861862-35861912	SAEC	small airway:	n/a
34	chr19:35861862-35861912	GM12878	blood:	n/a
35	chr19:35850463-35850513	PFSK-1	brain:	n/a
36	chr19:35850463-35850513	GM12878	blood:	n/a
37	chr19:35850463-35850513	HIPEpiC	eye:	n/a
38	chr19:35861862-35861912	K562	blood:	n/a
39	chr19:35861862-35861912	A549	lung:	n/a
40	chr19:35861862-35861912	NHDF-neo	bronchial:	n/a
41	chr19:35850463-35850513	GM19239	blood:	n/a
42	chr19:35850463-35850513	HUVEC	blood vessel:	n/a
43	chr19:35861862-35861912	AG04449	skin:	fetal
44	chr19:35850463-35850513	HCF	heart:	n/a
45	chr19:35850463-35850513	HNPCEpiC	eye:	n/a
46	chr19:35850463-35850513	GM12892	blood:	n/a
47	chr19:35861862-35861912	GM19239	blood:	n/a
48	chr19:35861862-35861912	ProgFib	skin:	n/a
49	chr19:35861862-35861912	GM12892	blood:	n/a
50	chr19:35850463-35850513	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr19:35865310..35868154-chr19:35869837..35872073,2	K562	blood:
2	chr19:35866654..35868491-chr19:35868954..35871337,2	K562	blood:
3	chr19:35847716..35849933-chr19:35855045..35856568,2	MCF-7	breast:
4	chr19:35864467..35867206-chr19:35939200..35941045,2	MCF-7	breast:

No data

Variant related genes	Relation type
FFAR3	TF binding region
GPR42	TF binding region
FFAR3	CpG island
GPR42	CpG island
ENSG00000126262	chromatin interactions
ENSG00000185897	chromatin interactions

Extended variants
information (count: 544 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59198030	chr19:35849563-35849564	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs62109580	chr19:35849666-35849667	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs369303830	chr19:35849690-35849691	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs573573596	chr19:35849691-35849692	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs542544927	chr19:35849738-35849739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368520877	chr19:35849742-35849743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528333217	chr19:35849755-35849756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146397125	chr19:35849813-35849814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551288253	chr19:35849824-35849825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368567016	chr19:35849841-35849842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371169601	chr19:35849849-35849850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530535002	chr19:35849856-35849857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150256974	chr19:35849883-35849884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550566313	chr19:35849897-35849898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148149328	chr19:35849909-35849910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62109581	chr19:35849926-35849927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375665593	chr19:35849930-35849931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs202228986	chr19:35849931-35849932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138919331	chr19:35849933-35849934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139872810	chr19:35849937-35849938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368240354	chr19:35849938-35849939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141595495	chr19:35849939-35849940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200224629	chr19:35849940-35849941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566139658	chr19:35849942-35849943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372231935	chr19:35849945-35849946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367794314	chr19:35849946-35849947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578021833	chr19:35849960-35849961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146184076	chr19:35849966-35849967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139036566	chr19:35849973-35849974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556917621	chr19:35850006-35850007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202122950	chr19:35850007-35850008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149009291	chr19:35850022-35850023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371280742	chr19:35850076-35850077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573735043	chr19:35850090-35850091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542508177	chr19:35850098-35850099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369799345	chr19:35850137-35850138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373181049	chr19:35850139-35850140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145076130	chr19:35850152-35850153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559551024	chr19:35850168-35850169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148671847	chr19:35850169-35850170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573063217	chr19:35850182-35850183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62109582	chr19:35850190-35850191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545153939	chr19:35850203-35850204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564953991	chr19:35850223-35850224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530606489	chr19:35850237-35850238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375112528	chr19:35850245-35850246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147815439	chr19:35850246-35850247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550729747	chr19:35850257-35850258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142434838	chr19:35850264-35850265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146541818	chr19:35850270-35850271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	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
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35847200-35852000	Weak transcription	GM12878-XiMat	blood
2	chr19:35848200-35849600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr19:35848400-35849600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr19:35848400-35849600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:35848400-35849600	Enhancers	Placenta	Placenta
6	chr19:35848800-35849600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr19:35848800-35849600	Enhancers	Primary hematopoietic stem cells	blood
8	chr19:35848800-35849600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr19:35848800-35849600	Enhancers	Lung	lung
10	chr19:35849200-35849600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr19:35849200-35849600	Enhancers	Stomach Mucosa	stomach
12	chr19:35849200-35850000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr19:35849400-35849600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:35849400-35849600	Enhancers	Fetal Lung	lung
15	chr19:35849400-35849600	Enhancers	Dnd41	blood
16	chr19:35849400-35851600	Weak transcription	Pancreas	Pancrea
17	chr19:35849400-35851800	Weak transcription	HepG2	liver
18	chr19:35849600-35851800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr19:35849600-35852000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:35851600-35853000	Enhancers	Pancreas	Pancrea
21	chr19:35851800-35852200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr19:35851800-35852200	Enhancers	HepG2	liver
23	chr19:35852000-35852400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr19:35852000-35852400	Enhancers	GM12878-XiMat	blood
25	chr19:35852000-35852600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:35852200-35852400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr19:35853200-35853400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:35854400-35855000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:35856400-35856600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:35864200-35864400	Enhancers	GM12878-XiMat	blood
31	chr19:35864200-35865800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr19:35864400-35864600	Bivalent Enhancer	K562	blood
33	chr19:35864400-35865400	Weak transcription	GM12878-XiMat	blood
34	chr19:35865000-35867200	Enhancers	K562	blood
35	chr19:35865200-35866000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
36	chr19:35865200-35866600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr19:35865400-35867200	Enhancers	Stomach Mucosa	stomach
38	chr19:35865400-35869000	Enhancers	GM12878-XiMat	blood
39	chr19:35865600-35866200	Enhancers	Ovary	ovary
40	chr19:35865600-35866400	Enhancers	HepG2	liver
41	chr19:35865800-35866000	Bivalent Enhancer	A549	lung
42	chr19:35865800-35870200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:35866000-35867000	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr19:35866200-35866800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:35866400-35866800	Weak transcription	HepG2	liver
46	chr19:35866400-35868400	Enhancers	Primary B cells from peripheral blood	blood

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