Variant report

Variant	rs8107448
Chromosome Location	chr19:40699718-40699719
allele	C/T
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	REST	chr19:40696167-40699848	PANC-1	pancreas:	n/a	chr19:40697230-40697243 chr19:40696949-40696962 chr19:40697557-40697570 chr19:40697230-40697243 chr19:40697557-40697575 chr19:40697919-40697929
2	SIN3AK20	chr19:40696231-40700076	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40697008..40699890-chr19:40723055..40726049,3	MCF-7	breast:

Variant related genes	Relation type
MAP3K10	TF binding region
ENSG00000174521	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1972545	1.00[AMR][1000 genomes]
rs56743160	1.00[AMR][1000 genomes]
rs58341807	1.00[AMR][1000 genomes]
rs58675277	1.00[AMR][1000 genomes]
rs61140926	1.00[AMR][1000 genomes]
rs61208274	1.00[AMR][1000 genomes]
rs7249252	1.00[AMR][1000 genomes]
rs7256297	1.00[AMR][1000 genomes]
rs73547678	1.00[AMR][1000 genomes]
rs73547690	1.00[AMR][1000 genomes]
rs73549813	1.00[AMR][1000 genomes]
rs73553624	1.00[AMR][1000 genomes]
rs73553657	1.00[AMR][1000 genomes]
rs73555546	1.00[AMR][1000 genomes]
rs73555594	1.00[AMR][1000 genomes]
rs73557743	1.00[AMR][1000 genomes]
rs73557755	1.00[AMR][1000 genomes]
rs73559610	1.00[AMR][1000 genomes]
rs73559649	1.00[AMR][1000 genomes]
rs892117	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv911697	chr19:40599603-40711333	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv911698	chr19:40689580-40725304	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv911700	chr19:40695598-40725304	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv911701	chr19:40695598-40728417	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv911702	chr19:40697061-40731371	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40698000-40711400	Weak transcription	Fetal Kidney	kidney
2	chr19:40698400-40699800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr19:40698400-40699800	Flanking Active TSS	Fetal Brain Female	brain
4	chr19:40698400-40711200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:40698400-40714600	Weak transcription	Small Intestine	intestine
6	chr19:40698400-40715400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:40698600-40699800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr19:40698600-40700000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr19:40698600-40700800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr19:40698600-40703000	Weak transcription	Fetal Intestine Small	intestine
11	chr19:40698600-40721200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr19:40698800-40699800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:40698800-40699800	Enhancers	Pancreas	Pancrea
14	chr19:40698800-40706800	Weak transcription	HMEC	breast
15	chr19:40698800-40708200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:40698800-40708600	Weak transcription	Primary B cells from cord blood	blood
17	chr19:40698800-40708600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:40698800-40708600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:40698800-40711000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:40698800-40711000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:40698800-40711000	Weak transcription	Fetal Intestine Large	intestine
22	chr19:40698800-40715600	Weak transcription	Liver	Liver
23	chr19:40698800-40719600	Weak transcription	HSMM	muscle
24	chr19:40698800-40720200	Weak transcription	NHEK	skin
25	chr19:40698800-40721400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:40698800-40722000	Weak transcription	Fetal Thymus	thymus
27	chr19:40699000-40699800	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr19:40699000-40699800	Enhancers	GM12878-XiMat	blood
29	chr19:40699000-40699800	Enhancers	NHDF-Ad	bronchial
30	chr19:40699000-40700400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr19:40699000-40700400	Weak transcription	K562	blood
32	chr19:40699000-40700800	Enhancers	Fetal Brain Male	brain
33	chr19:40699000-40703000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:40699000-40704000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:40699000-40706800	Weak transcription	Left Ventricle	heart
36	chr19:40699000-40707400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:40699000-40708800	Weak transcription	Gastric	stomach
38	chr19:40699000-40708800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr19:40699000-40709000	Weak transcription	Primary T cells from cord blood	blood
40	chr19:40699000-40709200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr19:40699000-40710400	Weak transcription	NHLF	lung
42	chr19:40699000-40711000	Weak transcription	HSMMtube	muscle
43	chr19:40699000-40716600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:40699000-40716600	Weak transcription	A549	lung
45	chr19:40699000-40720400	Weak transcription	Psoas Muscle	Psoas
46	chr19:40699000-40722200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr19:40699000-40722200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr19:40699000-40722400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr19:40699200-40699800	Enhancers	Brain Substantia Nigra	brain
50	chr19:40699200-40700000	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links