Variant report

Variant	rs1851424
Chromosome Location	chr7:99335603-99335604
allele	A/C
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	FOS	chr7:99335383-99335771	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr7:99335299-99335784	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr7:99335263-99335784	MCF10A-Er-Src	breast:	n/a	chr7:99335611-99335623
4	FOS	chr7:99335377-99335779	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr7:99335296-99335877	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr7:99335434-99335727	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr7:99335075-99335862	MCF10A-Er-Src	breast:	n/a	chr7:99335611-99335623
8	STAT3	chr7:99335337-99335705	MCF10A-Er-Src	breast:	n/a	chr7:99335611-99335623
9	KAP1	chr7:99335318-99335876	HEK293	kidney:	n/a	n/a
10	MYC	chr7:99335364-99335876	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr7:99335439-99335779	MCF10A-Er-Src	breast:	n/a	chr7:99335611-99335623
12	MYC	chr7:99335349-99335857	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99331906..99334521-chr7:99334977..99338227,4	MCF-7	breast:

Variant related genes	Relation type
CYP3A7	TF binding region
ENSG00000160870	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1818796	0.83[AFR][1000 genomes]
rs2253568	0.88[AFR][1000 genomes]
rs2263421	1.00[AFR][1000 genomes]
rs2687073	1.00[YRI][hapmap]
rs2687083	1.00[AFR][1000 genomes]
rs2687128	1.00[YRI][hapmap]
rs2740580	1.00[AFR][1000 genomes]
rs2741871	0.84[AFR][1000 genomes]
rs586942	1.00[YRI][hapmap]
rs776743	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482532	chr7:99205906-99363886	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv888771	chr7:99294762-99355278	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99303200-99337200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:99306000-99339000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:99306800-99340800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:99311800-99349000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:99320000-99337200	Weak transcription	Brain Angular Gyrus	brain
6	chr7:99321800-99338200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:99324400-99339200	Weak transcription	Brain Substantia Nigra	brain
8	chr7:99327200-99339200	Weak transcription	Brain Anterior Caudate	brain
9	chr7:99331200-99337600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:99331400-99336400	Weak transcription	Aorta	Aorta
11	chr7:99331400-99338800	Weak transcription	Liver	Liver
12	chr7:99333200-99336200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:99333600-99339600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:99333800-99337000	Enhancers	HMEC	breast
15	chr7:99334200-99336800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:99334400-99335800	Strong transcription	Adipose Nuclei	Adipose
17	chr7:99334400-99336600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:99334400-99337600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:99334400-99337800	Strong transcription	Left Ventricle	heart
20	chr7:99334600-99335800	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr7:99334600-99338800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:99334800-99335800	Strong transcription	Brain Hippocampus Middle	brain
23	chr7:99334800-99340800	Weak transcription	Pancreas	Pancrea
24	chr7:99335000-99336000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:99335000-99336000	Enhancers	Dnd41	blood
26	chr7:99335000-99337800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:99335200-99335800	Flanking Active TSS	NHEK	skin
28	chr7:99335200-99336000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:99335200-99336000	Enhancers	HepG2	liver
30	chr7:99335400-99335800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:99335400-99335800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr7:99335400-99335800	Enhancers	HSMM	muscle
33	chr7:99335400-99336000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:99335600-99337600	Weak transcription	HSMMtube	muscle

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