Variant report

Variant	rs56199016
Chromosome Location	chr9:116377885-116377886
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr9:116377331-116377932	GM12878	blood:	n/a	n/a
2	SPI1	chr9:116377445-116378020	GM12878	blood:	n/a	chr9:116377672-116377679
3	ZNF143	chr9:116377691-116378010	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:116364314..116366664-chr9:116377313..116378930,2	MCF-7	breast:
2	chr9:116368318..116370482-chr9:116376784..116379532,2	MCF-7	breast:
3	chr9:116375318..116378265-chr9:116400477..116402122,2	K562	blood:
4	chr9:116356309..116357937-chr9:116375558..116377978,2	MCF-7	breast:
5	chr9:116376834..116379828-chr9:116381468..116382973,2	MCF-7	breast:
6	chr9:116376628..116378313-chr9:116382222..116384609,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233817	TF binding region
ENSG00000138835	Chromatin interaction
ENSG00000233817	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10981839	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72763851	0.89[EUR][1000 genomes]
rs72763859	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72763861	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv893748	chr9:116308709-116421786	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
6	nsv466509	chr9:116356516-116396098	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv615216	chr9:116356516-116396098	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv466510	chr9:116363877-116397397	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv615217	chr9:116363877-116397397	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv615218	chr9:116365126-116391069	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv3330945	chr9:116374331-116378629	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv466511	chr9:116374990-116397397	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv615219	chr9:116374990-116397397	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116371200-116380200	Enhancers	Fetal Muscle Leg	muscle
2	chr9:116371800-116379400	Enhancers	Left Ventricle	heart
3	chr9:116372800-116379400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:116373600-116378400	Enhancers	Fetal Muscle Trunk	muscle
5	chr9:116373600-116379800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:116373600-116382400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:116373800-116379400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr9:116373800-116379600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr9:116373800-116380000	Enhancers	Spleen	Spleen
10	chr9:116375200-116379800	Enhancers	Right Ventricle	heart
11	chr9:116375600-116378200	Enhancers	HSMM	muscle
12	chr9:116375600-116382400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr9:116375800-116379400	Enhancers	Lung	lung
14	chr9:116376200-116378000	Enhancers	Colon Smooth Muscle	Colon
15	chr9:116376200-116378000	Enhancers	Gastric	stomach
16	chr9:116376200-116378000	Enhancers	Pancreas	Pancrea
17	chr9:116376200-116378200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:116376200-116378200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr9:116376200-116378600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr9:116376200-116378600	Enhancers	Liver	Liver
21	chr9:116376200-116379200	Enhancers	Fetal Heart	heart
22	chr9:116376200-116379400	Enhancers	Brain Substantia Nigra	brain
23	chr9:116376200-116379400	Enhancers	NHLF	lung
24	chr9:116376200-116379800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr9:116376200-116380000	Enhancers	Ovary	ovary
26	chr9:116376200-116380200	Enhancers	Fetal Stomach	stomach
27	chr9:116376200-116386000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr9:116376400-116378000	Enhancers	Brain Angular Gyrus	brain
29	chr9:116376400-116378000	Enhancers	Stomach Mucosa	stomach
30	chr9:116376400-116378200	Enhancers	NH-A	brain
31	chr9:116376400-116379000	Enhancers	Right Atrium	heart
32	chr9:116376400-116380200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:116376600-116378200	Enhancers	Brain Hippocampus Middle	brain
34	chr9:116376800-116378000	Enhancers	Fetal Intestine Small	intestine
35	chr9:116376800-116378200	Enhancers	GM12878-XiMat	blood
36	chr9:116376800-116378400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr9:116376800-116378400	Flanking Active TSS	NHDF-Ad	bronchial
38	chr9:116376800-116378800	Weak transcription	Fetal Brain Male	brain
39	chr9:116376800-116379000	Enhancers	Brain Cingulate Gyrus	brain
40	chr9:116376800-116379000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:116376800-116379800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr9:116376800-116380000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr9:116376800-116382200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr9:116377000-116378000	Enhancers	Fetal Thymus	thymus
45	chr9:116377000-116378600	Enhancers	Aorta	Aorta
46	chr9:116377000-116379000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr9:116377000-116379200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr9:116377000-116379600	Enhancers	Placenta	Placenta
49	chr9:116377000-116382200	Enhancers	Primary B cells from cord blood	blood
50	chr9:116377000-116382800	Enhancers	Primary B cells from peripheral blood	blood

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