Variant report

Variant	rs268681
Chromosome Location	chr19:40933064-40933065
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:40932720-40933684	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:40919789..40935162-chr19:40946854..40955873,58	MCF-7	breast:
2	chr19:40930238..40933445-chr19:40968934..40973094,5	MCF-7	breast:
3	chr19:40929000..40933496-chr19:40948111..40953156,29	MCF-7	breast:
4	chr19:40930494..40933522-chr19:41110007..41112597,3	K562	blood:
5	chr19:40929942..40935093-chr19:40947472..40955743,23	K562	blood:
6	chr19:40929630..40934621-chr19:40969030..40973237,9	K562	blood:
7	chr19:40925098..40933993-chr19:40944045..40956524,41	K562	blood:
8	chr19:40924946..40933265-chr19:40969030..40973228,17	K562	blood:
9	chr19:40930456..40933734-chr19:41119113..41120830,3	K562	blood:
10	chr19:40929828..40933213-chr19:41114237..41116915,3	MCF-7	breast:

No data

Variant related genes	Relation type
SERTAD1	TF binding region
ENSG00000268366	Chromatin interaction
ENSG00000090006	Chromatin interaction
ENSG00000160460	Chromatin interaction
ENSG00000167565	Chromatin interaction
ENSG00000090013	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10402565	1.00[AMR][1000 genomes]
rs10408716	1.00[AMR][1000 genomes]
rs183852	1.00[AMR][1000 genomes]
rs187908	1.00[AMR][1000 genomes]
rs268658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs268660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs268661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs268665	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs268667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs268675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv911707	chr19:40855255-40948202	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
7	nsv911709	chr19:40928944-41060616	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40930200-40933200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr19:40932400-40938400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:40932600-40933200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr19:40932600-40933200	Enhancers	Colonic Mucosa	Colon
5	chr19:40932600-40933200	Enhancers	Fetal Muscle Trunk	muscle
6	chr19:40932600-40933200	Enhancers	Pancreas	Pancrea
7	chr19:40932600-40933200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr19:40932600-40933400	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr19:40932600-40933400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr19:40932600-40933400	Enhancers	Hela-S3	cervix
11	chr19:40932600-40933400	Enhancers	HMEC	breast
12	chr19:40932600-40933400	Enhancers	K562	blood
13	chr19:40932600-40934800	Weak transcription	Esophagus	oesophagus
14	chr19:40932600-40935000	Weak transcription	Placenta	Placenta
15	chr19:40932600-40937200	Weak transcription	Fetal Lung	lung
16	chr19:40932600-40937400	Weak transcription	Fetal Stomach	stomach
17	chr19:40932600-40937600	Weak transcription	Fetal Muscle Leg	muscle
18	chr19:40932600-40937800	Weak transcription	Fetal Heart	heart
19	chr19:40932600-40937800	Weak transcription	Fetal Kidney	kidney
20	chr19:40932600-40938000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr19:40932600-40938000	Weak transcription	Adipose Nuclei	Adipose
22	chr19:40932600-40938000	Weak transcription	Fetal Intestine Small	intestine
23	chr19:40932600-40938200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr19:40932600-40938400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:40932600-40938400	Weak transcription	Liver	Liver
26	chr19:40932600-40938400	Weak transcription	Brain Hippocampus Middle	brain
27	chr19:40932600-40938400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr19:40932600-40938400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr19:40932600-40938400	Weak transcription	HSMM	muscle
30	chr19:40932600-40938600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr19:40932600-40938600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr19:40932600-40938600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr19:40932600-40938600	Weak transcription	Right Atrium	heart
34	chr19:40932600-40939000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr19:40932600-40939200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr19:40932600-40939200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr19:40932600-40939200	Weak transcription	Primary T cells from cord blood	blood
38	chr19:40932600-40939200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr19:40932600-40939200	Weak transcription	GM12878-XiMat	blood
40	chr19:40932800-40933200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr19:40932800-40933200	Weak transcription	A549	lung
42	chr19:40932800-40933200	Weak transcription	NHEK	skin
43	chr19:40932800-40933400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:40932800-40933400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:40933000-40933200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:40933000-40933200	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr19:40933000-40935200	Enhancers	HepG2	liver
48	chr19:40933000-40937600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:40933000-40938600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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