Variant report

Variant	rs1052400
Chromosome Location	chr19:35614508-35614509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35491744..35494381-chr19:35611607..35615581,4	MCF-7	breast:
2	chr19:35527255..35529170-chr19:35613027..35615568,2	MCF-7	breast:
3	chr19:35554962..35559860-chr19:35614369..35618117,6	MCF-7	breast:
4	chr19:35605558..35609314-chr19:35612734..35614935,4	K562	blood:
5	chr19:35600988..35603339-chr19:35614490..35616347,2	K562	blood:
6	chr19:35614004..35615566-chr19:35808376..35809985,2	MCF-7	breast:
7	chr19:35579665..35581490-chr19:35613218..35615753,2	MCF-7	breast:
8	chr19:35612886..35614518-chr19:35738699..35740744,2	K562	blood:
9	chr19:35614317..35617747-chr19:35624007..35627958,6	K562	blood:
10	chr19:35613601..35616090-chr20:47536904..47538580,2	MCF-7	breast:
11	chr19:35556167..35560763-chr19:35614033..35619020,7	MCF-7	breast:
12	chr19:35580355..35585602-chr19:35613550..35616986,5	MCF-7	breast:
13	chr19:35614212..35616054-chr8:47337776..47339296,2	MCF-7	breast:
14	chr19:35520473..35522241-chr19:35613681..35615762,2	MCF-7	breast:
15	chr19:35582008..35584098-chr19:35612317..35614523,2	MCF-7	breast:
16	chr19:35484566..35500314-chr19:35605249..35618746,58	MCF-7	breast:
17	chr19:35613020..35615415-chr19:35738060..35741451,3	MCF-7	breast:
18	chr19:35614454..35615424-chr5:89770041..89770855,2	Hela-S3	cervix:
19	chr19:35612847..35615627-chr2:105945094..105947397,2	MCF-7	breast:
20	chr19:35612201..35614910-chr19:35707962..35710691,2	MCF-7	breast:
21	chr19:35613177..35615989-chr2:264298..265864,2	MCF-7	breast:
22	chr19:35614110..35616842-chr19:35771994..35774763,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135966	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000105697	Chromatin interaction
ENSG00000176055	Chromatin interaction
ENSG00000269303	Chromatin interaction
ENSG00000105711	Chromatin interaction
ENSG00000089356	Chromatin interaction
ENSG00000089351	Chromatin interaction
ENSG00000124198	Chromatin interaction
ENSG00000113356	Chromatin interaction
ENSG00000153902	Chromatin interaction
ENSG00000035115	Chromatin interaction
ENSG00000143727	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs41407744	1.00[AMR][1000 genomes]
rs73588856	1.00[AMR][1000 genomes]
rs73588864	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911614	chr19:35570307-35648365	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
3	nsv911615	chr19:35577870-35648365	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	nsv911616	chr19:35577870-35669071	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
5	nsv911617	chr19:35587791-35642297	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35607200-35614600	Weak transcription	Brain Germinal Matrix	brain
2	chr19:35607200-35615200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:35607600-35615200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:35609000-35615200	Enhancers	HepG2	liver
5	chr19:35609400-35614800	Enhancers	Adipose Nuclei	Adipose
6	chr19:35609800-35615000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:35610000-35614800	Enhancers	NHDF-Ad	bronchial
8	chr19:35610400-35614600	Weak transcription	Pancreas	Pancrea
9	chr19:35610400-35615000	Genic enhancers	Fetal Intestine Large	intestine
10	chr19:35610400-35615200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:35610400-35615200	Weak transcription	Ovary	ovary
12	chr19:35610600-35614800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:35610800-35614800	Weak transcription	Colon Smooth Muscle	Colon
14	chr19:35611000-35614800	Weak transcription	Liver	Liver
15	chr19:35611600-35614600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr19:35611800-35614600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr19:35611800-35614600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr19:35611800-35614800	Genic enhancers	Colonic Mucosa	Colon
19	chr19:35611800-35615200	Genic enhancers	Placenta	Placenta
20	chr19:35612000-35614800	Weak transcription	K562	blood
21	chr19:35612000-35614800	Weak transcription	NH-A	brain
22	chr19:35612200-35615000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr19:35612400-35614600	Weak transcription	A549	lung
24	chr19:35612400-35614800	Genic enhancers	Esophagus	oesophagus
25	chr19:35612400-35614800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr19:35612600-35614800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr19:35612600-35614800	Genic enhancers	Rectal Mucosa Donor 29	rectum
28	chr19:35612600-35615400	Weak transcription	Small Intestine	intestine
29	chr19:35612800-35615200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:35612800-35615200	Genic enhancers	Rectal Mucosa Donor 31	rectum
31	chr19:35613000-35615200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr19:35613000-35615200	Enhancers	Stomach Mucosa	stomach
33	chr19:35613400-35614600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr19:35613400-35614600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr19:35613400-35615000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:35613400-35615200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:35613400-35615400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr19:35613400-35615400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:35613400-35616200	Flanking Active TSS	Hela-S3	cervix
40	chr19:35613600-35614600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:35613600-35614600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:35613600-35614600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:35613600-35614800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr19:35613600-35614800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:35613600-35614800	Enhancers	Brain Hippocampus Middle	brain
46	chr19:35613600-35615000	Enhancers	Brain Anterior Caudate	brain
47	chr19:35613600-35615000	Enhancers	Fetal Muscle Leg	muscle
48	chr19:35613600-35615200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr19:35613600-35615200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:35613600-35615800	Enhancers	H1 Cell Line	embryonic stem cell

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