Variant report

Variant	rs537209805
Chromosome Location	chr19:38826558-38826559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr19:38826232-38826563	HepG2	liver:	n/a	chr19:38826380-38826387 chr19:38826313-38826323
2	POLR2A	chr19:38826201-38827970	MCF10A-Er-Src	breast:	n/a	n/a
3	GABPA	chr19:38826207-38827798	SK-N-SH	brain:	n/a	chr19:38826312-38826321
4	CTCF	chr19:38826048-38826735	HCT-116	colon:	n/a	chr19:38826291-38826309
5	YY1	chr19:38826095-38828043	A549	lung:	n/a	chr19:38826437-38826447 chr19:38826437-38826459 chr19:38826435-38826452 chr19:38826436-38826452 chr19:38826440-38826448 chr19:38826436-38826448 chr19:38827480-38827489
6	YY1	chr19:38826134-38826650	SK-N-SH_RA	brain:	n/a	chr19:38826437-38826447 chr19:38826437-38826459 chr19:38826435-38826452 chr19:38826436-38826452 chr19:38826440-38826448 chr19:38826436-38826448
7	CTCF	chr19:38825440-38827183	A549	lung:	n/a	chr19:38826291-38826309 chr19:38826985-38826995
8	MYC	chr19:38826160-38826581	MCF10A-Er-Src	breast:	n/a	chr19:38826380-38826387 chr19:38826313-38826323
9	JUND	chr19:38826121-38826646	GM12878	blood:	n/a	n/a
10	SIN3AK20	chr19:38825942-38827717	PANC-1	pancreas:	n/a	n/a
11	MAX	chr19:38826010-38828085	A549	lung:	n/a	chr19:38827422-38827432 chr19:38826380-38826387 chr19:38827478-38827488 chr19:38826313-38826323
12	POLR2A	chr19:38826192-38828012	HL-60	blood:	n/a	n/a
13	USF1	chr19:38826182-38826645	K562	blood:	n/a	n/a
14	RAD21	chr19:38825911-38827976	HCT-116	colon:	n/a	chr19:38826289-38826308 chr19:38826986-38826996 chr19:38826985-38826994
15	SIN3AK20	chr19:38826190-38827745	A549	lung:	n/a	n/a
16	EBF1	chr19:38826326-38826810	GM12878	blood:	n/a	n/a
17	MAX	chr19:38826165-38827994	NB4	blood:	n/a	chr19:38827422-38827432 chr19:38826380-38826387 chr19:38827478-38827488 chr19:38826313-38826323
18	MAX	chr19:38826144-38827956	SK-N-SH	brain:	n/a	chr19:38827422-38827432 chr19:38826380-38826387 chr19:38827478-38827488 chr19:38826313-38826323
19	EP300	chr19:38826161-38827269	K562	blood:	n/a	n/a
20	MYC	chr19:38826177-38826565	K562	blood:	n/a	chr19:38826380-38826387 chr19:38826313-38826323
21	RFX5	chr19:38826200-38826561	GM12878	blood:	n/a	n/a
22	BACH1	chr19:38826254-38828128	H1-hESC	embryonic stem cell:	n/a	n/a
23	GABPA	chr19:38826078-38826665	A549	lung:	n/a	chr19:38826312-38826321
24	SIX5	chr19:38826163-38826616	A549	lung:	n/a	n/a
25	MAZ	chr19:38826145-38828113	K562	blood:	n/a	chr19:38827422-38827432 chr19:38826380-38826387 chr19:38827478-38827488 chr19:38826313-38826323
26	REST	chr19:38826514-38826988	A549	lung:	n/a	chr19:38826962-38826975
27	MAZ	chr19:38826062-38828017	IMR90	lung:	n/a	chr19:38827422-38827432 chr19:38826380-38826387 chr19:38827478-38827488 chr19:38826313-38826323
28	YY1	chr19:38826203-38826648	H1-hESC	embryonic stem cell:	n/a	chr19:38826437-38826447 chr19:38826437-38826459 chr19:38826435-38826452 chr19:38826436-38826452 chr19:38826440-38826448 chr19:38826436-38826448
29	CHD2	chr19:38826205-38827248	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr19:38826169-38827785	PANC-1	pancreas:	n/a	n/a
31	SP4	chr19:38826059-38826632	H1-hESC	embryonic stem cell:	n/a	chr19:38826308-38826324
32	CHD2	chr19:38826205-38827206	K562	blood:	n/a	n/a
33	ZEB1	chr19:38826184-38827693	GM12878	blood:	n/a	n/a
34	CREB1	chr19:38826051-38827921	GM12878	blood:	n/a	n/a
35	BHLHE40	chr19:38826202-38827404	HepG2	liver:	n/a	chr19:38827084-38827100
36	YY1	chr19:38826106-38827240	GM12878	blood:	n/a	chr19:38826437-38826447 chr19:38826437-38826459 chr19:38826435-38826452 chr19:38826436-38826452 chr19:38826440-38826448 chr19:38826436-38826448
37	CREB1	chr19:38826154-38826703	HepG2	liver:	n/a	n/a
38	NR3C1	chr19:38826223-38826636	A549	lung:	n/a	chr19:38826437-38826451 chr19:38826565-38826578
39	ETS1	chr19:38826198-38826961	A549	lung:	n/a	n/a
40	CTCF	chr19:38825991-38826571	K562	blood:	n/a	chr19:38826291-38826309
41	MXI1	chr19:38826213-38826987	H1-hESC	embryonic stem cell:	n/a	chr19:38826368-38826383
42	EP300	chr19:38826102-38826789	A549	lung:	n/a	n/a
43	POLR2A	chr19:38826188-38828058	Raji	blood:	n/a	n/a
44	MAZ	chr19:38826158-38827894	GM12878	blood:	n/a	chr19:38827422-38827432 chr19:38826380-38826387 chr19:38827478-38827488 chr19:38826313-38826323
45	MXI1	chr19:38825930-38828215	SK-N-SH	brain:	n/a	chr19:38826368-38826383
46	JUN	chr19:38826099-38828496	K562	blood:	n/a	n/a
47	SIN3AK20	chr19:38826154-38827644	A549	lung:	n/a	n/a
48	YY1	chr19:38826055-38828060	HepG2	liver:	n/a	chr19:38826437-38826447 chr19:38826437-38826459 chr19:38826435-38826452 chr19:38826436-38826452 chr19:38826440-38826448 chr19:38826436-38826448 chr19:38827480-38827489
49	USF2	chr19:38826245-38826569	H1-hESC	embryonic stem cell:	n/a	n/a
50	USF1	chr19:38826158-38826558	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:38804679..38808674-chr19:38824887..38827856,7	K562	blood:
2	chr19:38715608..38719883-chr19:38825304..38828918,6	K562	blood:
3	chr19:38824766..38830853-chr19:38863348..38868089,16	MCF-7	breast:
4	chr19:38825004..38828693-chr19:38863595..38867873,9	K562	blood:
5	chr19:38823410..38828693-chr19:38863569..38867873,9	K562	blood:
6	chr19:38791989..38796796-chr19:38825093..38829391,7	MCF-7	breast:
7	chr19:38825537..38827989-chr19:38835886..38838412,2	K562	blood:
8	chr19:38753791..38756428-chr19:38824915..38829046,7	MCF-7	breast:
9	chr19:38826255..38829380-chr19:38850634..38854376,3	MCF-7	breast:
10	chr19:38824957..38829265-chr19:38874295..38879043,8	MCF-7	breast:
11	chr19:38826223..38828930-chr19:38842574..38845020,2	MCF-7	breast:
12	chr19:38793982..38798570-chr19:38826004..38829304,4	K562	blood:
13	chr19:38826489..38830578-chr19:38835148..38838719,4	K562	blood:
14	chr19:38825745..38829204-chr19:38906597..38909224,3	K562	blood:
15	chr19:38826520..38827474-chr7:66146585..66147505,2	Hela-S3	cervix:
16	chr19:38824024..38830842-chr19:38863522..38868048,10	MCF-7	breast:
17	chr19:38793475..38795482-chr19:38826442..38828638,2	K562	blood:
18	chr19:38733321..38734847-chr19:38824832..38827411,2	MCF-7	breast:
19	chr19:38733984..38735573-chr19:38825634..38828607,2	K562	blood:
20	chr19:38741131..38744022-chr19:38825237..38827049,2	K562	blood:
21	chr19:38746246..38748291-chr19:38825736..38828521,3	K562	blood:
22	chr19:38806332..38809400-chr19:38825014..38828541,5	K562	blood:
23	chr19:38712277..38715341-chr19:38824721..38827828,3	K562	blood:
24	chr19:38777648..38780643-chr19:38825334..38827865,2	K562	blood:
25	chr19:38745286..38748830-chr19:38824490..38828580,5	K562	blood:
26	chr19:38733182..38735640-chr19:38825420..38827758,3	K562	blood:
27	chr19:38825387..38828116-chr19:38877119..38879831,3	MCF-7	breast:
28	chr19:38810007..38812286-chr19:38825422..38828123,4	MCF-7	breast:
29	chr19:38825542..38827860-chr19:38892803..38895034,2	K562	blood:

Variant related genes	Relation type
CATSPERG	TF binding region
ENSG00000171777	Chromatin interaction
ENSG00000188766	Chromatin interaction
ENSG00000130244	Chromatin interaction
ENSG00000267748	Chromatin interaction
ENSG00000167644	Chromatin interaction
ENSG00000266963	Chromatin interaction
ENSG00000099341	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000011332	Chromatin interaction
ENSG00000179168	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000167645	Chromatin interaction
ENSG00000099337	Chromatin interaction
ENSG00000167641	Chromatin interaction
ENSG00000267090	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	esv21001	chr19:38826488-38827974	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38811200-38826600	Weak transcription	Brain Substantia Nigra	brain
2	chr19:38812000-38826600	Weak transcription	HUVEC	blood vessel
3	chr19:38812200-38826600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:38813200-38826800	Weak transcription	Fetal Heart	heart
5	chr19:38818000-38826600	Weak transcription	Small Intestine	intestine
6	chr19:38818200-38826600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr19:38818400-38826600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:38818600-38826600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr19:38818800-38826600	Weak transcription	Fetal Lung	lung
10	chr19:38819000-38826600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr19:38819000-38826600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:38819000-38826600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr19:38819200-38826600	Weak transcription	Primary T cells from cord blood	blood
14	chr19:38819200-38826600	Weak transcription	Liver	Liver
15	chr19:38819200-38826600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr19:38819400-38826600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr19:38819400-38826600	Weak transcription	Pancreas	Pancrea
18	chr19:38819400-38826600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr19:38819400-38826600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr19:38819400-38826600	Weak transcription	Spleen	Spleen
21	chr19:38819400-38826600	Weak transcription	HSMMtube	muscle
22	chr19:38819600-38826600	Weak transcription	K562	blood
23	chr19:38820400-38826600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr19:38820400-38826600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr19:38820600-38826600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:38820600-38826600	Weak transcription	Esophagus	oesophagus
27	chr19:38820600-38826600	Weak transcription	Gastric	stomach
28	chr19:38820600-38826600	Weak transcription	Lung	lung
29	chr19:38820600-38826600	Weak transcription	NHLF	lung
30	chr19:38822800-38826600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:38825600-38827800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr19:38825800-38826600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:38825800-38827800	Active TSS	Osteobl	bone
34	chr19:38826000-38827200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:38826000-38827200	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr19:38826000-38827200	Active TSS	Stomach Smooth Muscle	stomach
37	chr19:38826000-38827800	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr19:38826000-38827800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:38826000-38827800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:38826000-38827800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:38826000-38827800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:38826000-38828000	Active TSS	H9 Cell Line	embryonic stem cell
43	chr19:38826000-38828000	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr19:38826000-38828000	Active TSS	Fetal Brain Female	brain
45	chr19:38826000-38828200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:38826000-38828200	Active TSS	HSMM	muscle
47	chr19:38826200-38826600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr19:38826200-38826600	Active TSS	Fetal Muscle Trunk	muscle
49	chr19:38826200-38826600	Weak transcription	Placenta	Placenta
50	chr19:38826200-38826800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links