Variant report

Variant	rs73518262
Chromosome Location	chr9:96844676-96844677
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	TEAD4	chr9:96844252-96844846	ECC-1	luminal epithelium:	n/a	n/a
2	EGR1	chr9:96844304-96844846	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:96836002..96839668-chr9:96843062..96845654,3	MCF-7	breast:
2	chr9:96843301..96845956-chr9:96937566..96939693,2	K562	blood:
3	chr9:96844456..96848566-chr9:96937566..96941042,3	K562	blood:

Variant related genes	Relation type
PTPDC1	TF binding region
ENSG00000199165	Chromatin interaction
ENSG00000199072	Chromatin interaction
ENSG00000269929	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28785792	1.00[AMR][1000 genomes]
rs58501549	1.00[AMR][1000 genomes]
rs73518294	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518515	1.00[AMR][1000 genomes]
rs73519491	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893589	chr9:96624645-96884544	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
3	nsv1043704	chr9:96816552-96873018	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96822400-96859800	Weak transcription	Psoas Muscle	Psoas
2	chr9:96824000-96845000	Weak transcription	Right Ventricle	heart
3	chr9:96824200-96860000	Weak transcription	Aorta	Aorta
4	chr9:96824200-96869600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr9:96824400-96846600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:96824400-96850000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:96824600-96845400	Weak transcription	Brain Germinal Matrix	brain
8	chr9:96828200-96847600	Weak transcription	HMEC	breast
9	chr9:96828200-96848400	Weak transcription	Fetal Intestine Large	intestine
10	chr9:96828200-96848600	Weak transcription	Colon Smooth Muscle	Colon
11	chr9:96828200-96859600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr9:96828200-96860800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr9:96828200-96862000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr9:96828200-96868200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr9:96828400-96846800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:96828400-96846800	Weak transcription	Spleen	Spleen
17	chr9:96828400-96847400	Weak transcription	Osteobl	bone
18	chr9:96828400-96847600	Weak transcription	NHEK	skin
19	chr9:96828400-96848400	Weak transcription	NHDF-Ad	bronchial
20	chr9:96828400-96848600	Weak transcription	A549	lung
21	chr9:96829600-96872400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:96829800-96845400	Weak transcription	Fetal Brain Female	brain
23	chr9:96832000-96859800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr9:96834000-96846800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:96834000-96847600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:96834000-96848600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr9:96834400-96859800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr9:96835200-96847600	Weak transcription	Esophagus	oesophagus
29	chr9:96835400-96861800	Weak transcription	Primary B cells from cord blood	blood
30	chr9:96837000-96857400	Weak transcription	HSMM	muscle
31	chr9:96837200-96844800	Weak transcription	Ovary	ovary
32	chr9:96837200-96845400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:96837200-96846800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:96837200-96847400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr9:96837200-96848400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:96837200-96857400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr9:96837200-96858600	Weak transcription	Dnd41	blood
38	chr9:96837200-96859800	Weak transcription	Fetal Intestine Small	intestine
39	chr9:96837400-96846600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr9:96837400-96846800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr9:96837400-96848600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:96837400-96848600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:96837400-96850600	Weak transcription	Adipose Nuclei	Adipose
44	chr9:96837400-96860200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr9:96837600-96846600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:96837600-96859200	Weak transcription	Primary T cells from cord blood	blood
47	chr9:96837800-96848600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr9:96838000-96846800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:96838600-96845200	Weak transcription	Fetal Stomach	stomach
50	chr9:96839000-96846800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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