Variant report

Variant	rs7070902
Chromosome Location	chr10:99096752-99096753
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	ESR1	chr10:99096637-99097516	T-47D	breast:	n/a	n/a
2	FOXA1	chr10:99096621-99097152	A549	lung:	n/a	n/a
3	HDAC2	chr10:99096661-99097553	H1-hESC	embryonic stem cell:	n/a	n/a
4	TEAD4	chr10:99096719-99097195	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOS	chr10:99096199-99096991	MCF10A-Er-Src	breast:	n/a	chr10:99096437-99096451 chr10:99096768-99096776
6	NFIC	chr10:99096673-99097573	ECC-1	luminal epithelium:	n/a	n/a
7	CTBP2	chr10:99096752-99097457	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF1	chr10:99096744-99097455	H1-hESC	embryonic stem cell:	n/a	n/a
9	STAT3	chr10:99096189-99097006	MCF10A-Er-Src	breast:	n/a	chr10:99096813-99096825
10	FOS	chr10:99095869-99096851	MCF10A-Er-Src	breast:	n/a	chr10:99096437-99096451 chr10:99096768-99096776
11	POU5F1	chr10:99096680-99097398	H1-hESC	embryonic stem cell:	n/a	chr10:99097129-99097143 chr10:99097129-99097143 chr10:99097129-99097143
12	NR2F2	chr10:99096681-99097549	MCF-7	breast:	n/a	n/a
13	SIN3AK20	chr10:99096590-99097656	MCF-7	breast:	n/a	n/a
14	SIN3A	chr10:99096630-99097338	H1-hESC	embryonic stem cell:	n/a	n/a
15	TCF7L2	chr10:99096703-99097411	MCF-7	breast:	n/a	n/a
16	SP1	chr10:99096604-99097447	H1-hESC	embryonic stem cell:	n/a	chr10:99096811-99096821 chr10:99096811-99096821 chr10:99096810-99096822
17	HDAC2	chr10:99096675-99097575	MCF-7	breast:	n/a	n/a
18	FOS	chr10:99096096-99097051	MCF10A-Er-Src	breast:	n/a	chr10:99096437-99096451 chr10:99096768-99096776
19	ATF2	chr10:99096638-99097540	H1-hESC	embryonic stem cell:	n/a	n/a
20	KAP1	chr10:99096678-99097580	U2OS	brain:	n/a	n/a
21	EP300	chr10:99096717-99097389	H1-hESC	embryonic stem cell:	n/a	n/a
22	TEAD4	chr10:99096687-99097229	H1-hESC	embryonic stem cell:	n/a	n/a
23	NR3C1	chr10:99096655-99097088	A549	lung:	n/a	n/a
24	STAT3	chr10:99096233-99097129	MCF10A-Er-Src	breast:	n/a	chr10:99096813-99096825
25	KAP1	chr10:99096711-99097532	HEK293	kidney:	n/a	n/a
26	MYC	chr10:99096219-99097081	MCF10A-Er-Src	breast:	n/a	n/a
27	TBP	chr10:99096606-99097468	H1-hESC	embryonic stem cell:	n/a	n/a
28	ZNF217	chr10:99096734-99097514	MCF-7	breast:	n/a	n/a
29	SP1	chr10:99096609-99097432	H1-hESC	embryonic stem cell:	n/a	chr10:99096811-99096821 chr10:99096811-99096821 chr10:99096810-99096822
30	GTF2F1	chr10:99096657-99097128	H1-hESC	embryonic stem cell:	n/a	n/a
31	NR3C1	chr10:99096646-99097132	A549	lung:	n/a	n/a
32	NANOG	chr10:99096748-99097312	H1-hESC	embryonic stem cell:	n/a	n/a
33	ESR1	chr10:99096733-99097501	T-47D	breast:	n/a	n/a
34	MYC	chr10:99095739-99096753	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr10:99096191-99096971	MCF10A-Er-Src	breast:	n/a	chr10:99096437-99096451 chr10:99096768-99096776
36	FOXA1	chr10:99096674-99097516	T-47D	breast:	n/a	n/a
37	EP300	chr10:99096708-99097533	T-47D	breast:	n/a	n/a
38	GATA3	chr10:99096626-99097453	T-47D	breast:	n/a	n/a
39	POLR2A	chr10:99095786-99096950	H1-neurons	neurons:	n/a	n/a
40	NR3C1	chr10:99096687-99097015	A549	lung:	n/a	n/a
41	FOXA1	chr10:99096680-99097174	A549	lung:	n/a	n/a
42	EP300	chr10:99096713-99097586	T-47D	breast:	n/a	n/a
43	NR3C1	chr10:99096685-99097203	A549	lung:	n/a	n/a
44	NFIC	chr10:99096569-99097617	ECC-1	luminal epithelium:	n/a	n/a
45	ESR1	chr10:99096657-99097501	T-47D	breast:	n/a	n/a
46	FOXA1	chr10:99096752-99097439	T-47D	breast:	n/a	n/a
47	NR3C1	chr10:99096697-99097072	ECC-1	luminal epithelium:	n/a	n/a
48	ATF2	chr10:99096623-99097365	H1-hESC	embryonic stem cell:	n/a	n/a
49	SIN3AK20	chr10:99096662-99096928	H1-hESC	embryonic stem cell:	n/a	n/a
50	NR3C1	chr10:99096663-99097046	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:99051072..99053903-chr10:99096331..99098905,2	MCF-7	breast:
2	chr10:99095023..99098677-chr10:99109833..99114591,4	MCF-7	breast:
3	chr10:99095422..99098240-chr10:99107284..99109589,2	MCF-7	breast:
4	chr10:99094972..99096841-chr10:99101105..99102688,2	MCF-7	breast:
5	chr10:99095891..99098123-chr10:99100617..99102682,2	K562	blood:
6	chr10:99091712..99094616-chr10:99095407..99097123,2	K562	blood:

Variant related genes	Relation type
FRAT2	TF binding region
ENSG00000225850	Chromatin interaction
ENSG00000181274	Chromatin interaction
ENSG00000213390	Chromatin interaction
ENSG00000269891	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12782676	0.89[AFR][1000 genomes]
rs2861879	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34288920	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs36098270	0.85[AFR][1000 genomes]
rs61861843	0.82[AFR][1000 genomes]
rs61861844	0.82[AFR][1000 genomes]
rs7101333	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045553	chr10:98944397-99122203	Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
3	nsv540750	chr10:98944397-99122203	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831952	chr10:98998344-99145924	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv895914	chr10:99006083-99131676	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv825533	chr10:99070570-99115599	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv825534	chr10:99081505-99115599	Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr10:99095200-99096800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:99095200-99096800	Weak transcription	Ovary	ovary
3	chr10:99095200-99097200	Weak transcription	Esophagus	oesophagus
4	chr10:99095200-99097400	Enhancers	Stomach Mucosa	stomach
5	chr10:99095200-99097600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr10:99095200-99097600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:99095200-99109400	Weak transcription	HSMMtube	muscle
8	chr10:99095200-99115200	Weak transcription	Gastric	stomach
9	chr10:99095400-99096800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:99095400-99096800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr10:99095400-99096800	Weak transcription	Brain Hippocampus Middle	brain
12	chr10:99095400-99096800	Weak transcription	Brain Substantia Nigra	brain
13	chr10:99095400-99096800	Weak transcription	Right Atrium	heart
14	chr10:99095400-99096800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr10:99095400-99096800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr10:99095400-99097000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr10:99095400-99097200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr10:99095400-99097200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr10:99095400-99097200	Weak transcription	Aorta	Aorta
20	chr10:99095400-99097200	Enhancers	Brain Anterior Caudate	brain
21	chr10:99095400-99097200	Weak transcription	Colonic Mucosa	Colon
22	chr10:99095400-99097200	Weak transcription	Lung	lung
23	chr10:99095400-99097200	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr10:99095400-99097200	Enhancers	HepG2	liver
25	chr10:99095400-99097400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr10:99095400-99097400	Enhancers	A549	lung
27	chr10:99095400-99097600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr10:99095400-99097600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:99095400-99098000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:99095400-99098000	Enhancers	Placenta	Placenta
31	chr10:99095400-99098200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr10:99095400-99098600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr10:99095400-99109400	Weak transcription	Liver	Liver
34	chr10:99095400-99115600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr10:99095400-99115600	Weak transcription	Left Ventricle	heart
36	chr10:99095400-99115600	Weak transcription	Right Ventricle	heart
37	chr10:99095600-99097000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr10:99095600-99097200	Enhancers	K562	blood
39	chr10:99095600-99098200	Enhancers	Brain Angular Gyrus	brain
40	chr10:99095600-99101800	Weak transcription	Pancreas	Pancrea
41	chr10:99095800-99096800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:99095800-99097600	Enhancers	HMEC	breast
43	chr10:99095800-99098400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr10:99095800-99098400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr10:99095800-99098400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr10:99096000-99096800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr10:99096000-99097000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr10:99096000-99097200	Enhancers	Duodenum Mucosa	Duodenum
49	chr10:99096000-99097400	Flanking Active TSS	NHEK	skin
50	chr10:99096000-99097600	Enhancers	Placenta Amnion	Placenta Amnion

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