Variant report

Variant	rs73518294
Chromosome Location	chr9:96860599-96860600
allele	A/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	NFIC	chr9:96859825-96860729	SK-N-SH	brain:	n/a	n/a
2	JUND	chr9:96859837-96860706	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr9:96859842-96860719	SK-N-SH	brain:	n/a	n/a
4	JUND	chr9:96859718-96860621	HCT-116	colon:	n/a	n/a
5	NFIC	chr9:96859899-96860607	SK-N-SH	brain:	n/a	n/a
6	TEAD4	chr9:96859768-96860617	SK-N-SH	brain:	n/a	n/a
7	JUND	chr9:96859826-96860635	HCT-116	colon:	n/a	n/a
8	GATA3	chr9:96859870-96860683	SK-N-SH	brain:	n/a	n/a
9	PBX3	chr9:96859789-96860673	SK-N-SH	brain:	n/a	n/a
10	EP300	chr9:96859842-96860669	SK-N-SH	brain:	n/a	n/a
11	FOSL1	chr9:96858969-96860686	HCT-116	colon:	n/a	chr9:96859358-96859368 chr9:96859358-96859368 chr9:96859359-96859366 chr9:96859358-96859368 chr9:96859359-96859367 chr9:96859358-96859368 chr9:96859359-96859367
12	TCF12	chr9:96859695-96860778	SK-N-SH	brain:	n/a	n/a
13	GATA3	chr9:96859930-96860609	SK-N-SH	brain:	n/a	n/a
14	SP1	chr9:96859798-96860653	HCT-116	colon:	n/a	n/a
15	FOSL1	chr9:96859873-96860640	HCT-116	colon:	n/a	n/a
16	POLR2A	chr9:96859956-96860607	U87	brain:	n/a	n/a
17	SP1	chr9:96859789-96860621	HCT-116	colon:	n/a	n/a
18	PBX3	chr9:96859914-96860603	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:96858833..96861735-chr9:96944084..96946628,2	K562	blood:
2	chr9:96791853..96794356-chr9:96860367..96862558,2	MCF-7	breast:
3	chr9:96855901..96860991-chr9:96926600..96930762,9	MCF-7	breast:
4	chr9:96859686..96862226-chr9:96927604..96929691,2	K562	blood:

Variant related genes	Relation type
PTPDC1	TF binding region
ENSG00000158079	Chromatin interaction
ENSG00000269946	Chromatin interaction

Extended variants
information (count: 11 )
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]
rs73518262	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518515	1.00[AMR][1000 genomes]
rs73519491	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv893591	chr9:96849137-96883271	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	esv2761543	chr9:96857735-96875582	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96824200-96869600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr9:96828200-96860800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr9:96828200-96862000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr9:96828200-96868200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr9:96829600-96872400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr9:96835400-96861800	Weak transcription	Primary B cells from cord blood	blood
7	chr9:96840200-96863600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:96845600-96885400	Weak transcription	Gastric	stomach
9	chr9:96846000-96870600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr9:96847800-96862600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:96848000-96863200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:96849000-96868800	Weak transcription	HepG2	liver
13	chr9:96849400-96866800	Weak transcription	Fetal Kidney	kidney
14	chr9:96849400-96869600	Weak transcription	HUVEC	blood vessel
15	chr9:96849400-96869800	Weak transcription	Colon Smooth Muscle	Colon
16	chr9:96849400-96883800	Weak transcription	Brain Germinal Matrix	brain
17	chr9:96849600-96870400	Weak transcription	Fetal Lung	lung
18	chr9:96849800-96864200	Weak transcription	Fetal Heart	heart
19	chr9:96850600-96870000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr9:96855000-96860800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr9:96855400-96863200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:96856000-96863600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr9:96856400-96863600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr9:96856600-96860800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:96856600-96861600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr9:96857000-96863600	Weak transcription	Thymus	Thymus
27	chr9:96857200-96863600	Weak transcription	Fetal Thymus	thymus
28	chr9:96857200-96871000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr9:96857200-96882800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:96857400-96868600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:96857600-96860800	Strong transcription	Adipose Nuclei	Adipose
32	chr9:96857600-96860800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr9:96857600-96860800	Weak transcription	Stomach Mucosa	stomach
34	chr9:96857600-96861000	Strong transcription	Brain Cingulate Gyrus	brain
35	chr9:96857600-96861000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr9:96857600-96861400	Strong transcription	Left Ventricle	heart
37	chr9:96857600-96862000	Strong transcription	Brain Anterior Caudate	brain
38	chr9:96857800-96860800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:96857800-96861000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr9:96857800-96865200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr9:96857800-96865400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr9:96858200-96860600	Strong transcription	Right Ventricle	heart
43	chr9:96858200-96861400	Strong transcription	Fetal Muscle Leg	muscle
44	chr9:96858200-96865400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr9:96858400-96860800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr9:96858400-96860800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:96858400-96861000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr9:96858400-96862600	Strong transcription	Fetal Stomach	stomach
49	chr9:96858400-96863600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr9:96858400-96865600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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