Variant report

Variant	rs10403751
Chromosome Location	chr19:40333556-40333557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr19:40333508-40333618	MCF10A-Er-Src	breast:	n/a	n/a
2	RAD21	chr19:40332940-40333588	SK-N-SH	brain:	n/a	n/a
3	MXI1	chr19:40333455-40333672	K562	blood:	n/a	n/a
4	CTCF	chr19:40333480-40333630	SAEC	small airway:	n/a	n/a
5	CTCF	chr19:40333003-40333631	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr19:40306432-40338982	PANC-1	pancreas:	n/a	n/a
7	CTCF	chr19:40333460-40333610	HCM	heart:	n/a	n/a
8	SIN3AK20	chr19:40332892-40340524	PANC-1	pancreas:	n/a	n/a
9	MAX	chr19:40333450-40333707	K562	blood:	n/a	chr19:40333615-40333625
10	MYC	chr19:40333105-40333792	K562	blood:	n/a	chr19:40333615-40333625
11	CTCF	chr19:40333460-40333610	SK-N-SH_RA	brain:	n/a	n/a
12	MXI1	chr19:40333536-40333655	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr19:40333515-40333642	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr19:40333500-40333650	HPAF	blood vessel:	n/a	n/a
15	MYC	chr19:40333496-40333741	K562	blood:	n/a	chr19:40333615-40333625
16	CTCF	chr19:40333480-40333630	GM12865	blood:	n/a	n/a
17	CTCF	chr19:40333420-40333570	WI-38	lung:	n/a	n/a
18	CTCF	chr19:40333520-40333670	AG04449	skin:	n/a	n/a
19	CTCF	chr19:40333500-40333650	AG04450	lung:	n/a	n/a
20	CTCF	chr19:40333460-40333610	GM06990	blood:	n/a	n/a
21	CTCF	chr19:40333500-40333650	K562	blood:	n/a	n/a
22	MAX	chr19:40333495-40333695	NB4	blood:	n/a	chr19:40333615-40333625
23	WRNIP1	chr19:40333339-40333861	GM12878	blood:	n/a	n/a
24	CTCF	chr19:40332912-40334212	A549	lung:	n/a	n/a
25	MAX	chr19:40333328-40334005	K562	blood:	n/a	chr19:40333615-40333625
26	CTCF	chr19:40333496-40333558	GM19238	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40029767..40032366-chr19:40330875..40333585,2	K562	blood:
2	chr19:40282440..40284866-chr19:40332192..40334772,3	K562	blood:
3	chr19:40332447..40334758-chr19:40335345..40337570,4	MCF-7	breast:
4	chr19:40327506..40332289-chr19:40333216..40337866,9	MCF-7	breast:
5	chr19:40321340..40326326-chr19:40333108..40338214,12	MCF-7	breast:
6	chr19:40255355..40257924-chr19:40332588..40334816,2	MCF-7	breast:
7	chr19:40245446..40248757-chr19:40332343..40336010,3	MCF-7	breast:
8	chr19:40332530..40335412-chr19:40475463..40477228,2	MCF-7	breast:
9	chr19:40283744..40284259-chr19:40332977..40333727,2	K562	blood:
10	chr19:40163210..40165073-chr19:40333318..40334922,2	MCF-7	breast:

No data

Variant related genes	Relation type
FBL	TF binding region
ENSG00000105204	Chromatin interaction
ENSG00000013275	Chromatin interaction
ENSG00000176396	Chromatin interaction
ENSG00000105202	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10404090	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10410397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10412290	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10414733	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10414955	1.00[EUR][1000 genomes]
rs10416176	1.00[EUR][1000 genomes]
rs11883291	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28714112	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56387916	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58565953	1.00[EUR][1000 genomes]
rs59903001	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59946095	1.00[EUR][1000 genomes]
rs60983054	1.00[EUR][1000 genomes]
rs73543039	1.00[EUR][1000 genomes]
rs73543045	1.00[EUR][1000 genomes]
rs73930604	1.00[EUR][1000 genomes]
rs73930650	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73930653	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73930657	1.00[EUR][1000 genomes]
rs73930778	1.00[EUR][1000 genomes]
rs73930779	1.00[EUR][1000 genomes]
rs73930780	1.00[EUR][1000 genomes]
rs8100743	1.00[EUR][1000 genomes]
rs8101720	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv911696	chr19:40310497-40344648	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv9725	chr19:40315519-40412523	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40324800-40336000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:40325400-40333800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:40325400-40334800	Weak transcription	Fetal Brain Male	brain
4	chr19:40329600-40335200	Weak transcription	Fetal Kidney	kidney
5	chr19:40329800-40335800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:40330000-40334800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:40330400-40334800	Weak transcription	NH-A	brain
8	chr19:40330600-40333600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:40330800-40334800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr19:40330800-40334800	Weak transcription	Brain Angular Gyrus	brain
11	chr19:40330800-40335200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr19:40330800-40335600	Weak transcription	Esophagus	oesophagus
13	chr19:40331000-40334400	Weak transcription	Primary B cells from cord blood	blood
14	chr19:40331000-40334800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:40331000-40334800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:40331000-40334800	Weak transcription	Gastric	stomach
17	chr19:40331000-40334800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:40331000-40334800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:40331000-40335000	Weak transcription	Brain Anterior Caudate	brain
20	chr19:40331000-40335200	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:40331000-40335400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:40331200-40333600	Weak transcription	Fetal Intestine Large	intestine
23	chr19:40331200-40334000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:40331200-40334800	Weak transcription	Brain Germinal Matrix	brain
25	chr19:40331200-40334800	Weak transcription	Brain Substantia Nigra	brain
26	chr19:40331200-40335000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:40331400-40334400	Weak transcription	Thymus	Thymus
28	chr19:40331400-40334800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr19:40331400-40335200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:40331400-40335600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr19:40331400-40335600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr19:40331400-40335600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr19:40331400-40335800	Weak transcription	Colonic Mucosa	Colon
34	chr19:40331600-40333800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr19:40331600-40334800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr19:40331600-40335200	Weak transcription	Fetal Brain Female	brain
37	chr19:40331800-40333600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr19:40332000-40334400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr19:40332000-40334800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:40332200-40334400	Enhancers	HepG2	liver
41	chr19:40332200-40334800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr19:40332200-40334800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:40332200-40335400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:40332200-40335600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:40332200-40336000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr19:40332200-40336000	Enhancers	Liver	Liver
47	chr19:40332400-40333600	Enhancers	Aorta	Aorta
48	chr19:40332400-40333600	Enhancers	Fetal Lung	lung
49	chr19:40332400-40334000	Genic enhancers	A549	lung
50	chr19:40332400-40334200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links