Variant report

Variant	rs4917766
Chromosome Location	chr10:99097191-99097192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP4	chr10:99096780-99097455	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr10:99096785-99097383	H1-hESC	embryonic stem cell:	n/a	n/a
3	ESR1	chr10:99096637-99097516	T-47D	breast:	n/a	n/a
4	HDAC2	chr10:99096661-99097553	H1-hESC	embryonic stem cell:	n/a	n/a
5	ESR1	chr10:99096775-99097473	T-47D	breast:	n/a	n/a
6	TEAD4	chr10:99096719-99097195	H1-hESC	embryonic stem cell:	n/a	n/a
7	HDAC2	chr10:99097126-99097569	MCF-7	breast:	n/a	n/a
8	NFIC	chr10:99096673-99097573	ECC-1	luminal epithelium:	n/a	n/a
9	CTBP2	chr10:99096752-99097457	H1-hESC	embryonic stem cell:	n/a	n/a
10	TAF1	chr10:99096744-99097455	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL11A	chr10:99096848-99097242	H1-hESC	embryonic stem cell:	n/a	n/a
12	GATA3	chr10:99096831-99097495	MCF-7	breast:	n/a	n/a
13	POU5F1	chr10:99096680-99097398	H1-hESC	embryonic stem cell:	n/a	chr10:99097129-99097143 chr10:99097129-99097143 chr10:99097129-99097143
14	NR2F2	chr10:99096681-99097549	MCF-7	breast:	n/a	n/a
15	SIN3AK20	chr10:99096590-99097656	MCF-7	breast:	n/a	n/a
16	SIN3A	chr10:99096630-99097338	H1-hESC	embryonic stem cell:	n/a	n/a
17	TCF7L2	chr10:99096703-99097411	MCF-7	breast:	n/a	n/a
18	SP1	chr10:99096604-99097447	H1-hESC	embryonic stem cell:	n/a	chr10:99096811-99096821 chr10:99096811-99096821 chr10:99096810-99096822
19	HDAC2	chr10:99096675-99097575	MCF-7	breast:	n/a	n/a
20	ATF2	chr10:99096638-99097540	H1-hESC	embryonic stem cell:	n/a	n/a
21	KAP1	chr10:99096678-99097580	U2OS	brain:	n/a	n/a
22	EP300	chr10:99097136-99097554	MCF-7	breast:	n/a	n/a
23	EP300	chr10:99096717-99097389	H1-hESC	embryonic stem cell:	n/a	n/a
24	TEAD4	chr10:99096687-99097229	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr10:99097133-99097340	H1-hESC	embryonic stem cell:	n/a	n/a
26	BCL11A	chr10:99096774-99097226	H1-hESC	embryonic stem cell:	n/a	n/a
27	KAP1	chr10:99096711-99097532	HEK293	kidney:	n/a	n/a
28	TBP	chr10:99096606-99097468	H1-hESC	embryonic stem cell:	n/a	n/a
29	ZNF217	chr10:99096734-99097514	MCF-7	breast:	n/a	n/a
30	POLR2A	chr10:99097094-99097382	H1-hESC	embryonic stem cell:	n/a	n/a
31	SP1	chr10:99096609-99097432	H1-hESC	embryonic stem cell:	n/a	chr10:99096811-99096821 chr10:99096811-99096821 chr10:99096810-99096822
32	YY1	chr10:99096982-99097534	H1-hESC	embryonic stem cell:	n/a	n/a
33	TCF12	chr10:99096868-99097322	H1-hESC	embryonic stem cell:	n/a	n/a
34	NANOG	chr10:99096748-99097312	H1-hESC	embryonic stem cell:	n/a	n/a
35	ESR1	chr10:99096733-99097501	T-47D	breast:	n/a	n/a
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	TCF7L2	chr10:99096755-99097449	PANC-1	pancreas:	n/a	n/a
40	HDAC2	chr10:99096809-99097565	H1-hESC	embryonic stem cell:	n/a	n/a
41	EP300	chr10:99096713-99097586	T-47D	breast:	n/a	n/a
42	NR3C1	chr10:99096685-99097203	A549	lung:	n/a	n/a
43	NFIC	chr10:99096569-99097617	ECC-1	luminal epithelium:	n/a	n/a
44	ESR1	chr10:99096657-99097501	T-47D	breast:	n/a	n/a
45	FOXA1	chr10:99096752-99097439	T-47D	breast:	n/a	n/a
46	ATF2	chr10:99096623-99097365	H1-hESC	embryonic stem cell:	n/a	n/a
47	BACH1	chr10:99096611-99097505	H1-hESC	embryonic stem cell:	n/a	n/a
48	GATA3	chr10:99096615-99097617	MCF-7	breast:	n/a	n/a
49	JUND	chr10:99096745-99097502	H1-hESC	embryonic stem cell:	n/a	chr10:99096768-99096776
50	CREB1	chr10:99096657-99097464	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

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	chr10:99095891..99098123-chr10:99100617..99102682,2	K562	blood:

No data

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

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10736115	0.87[CEU][hapmap];0.81[GIH][hapmap];0.86[TSI][hapmap]
rs10736116	0.84[EUR][1000 genomes]
rs10748691	0.96[CEU][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap]
rs10748694	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs10786321	0.87[CEU][hapmap];0.86[TSI][hapmap]
rs10786324	0.85[EUR][1000 genomes]
rs10786325	0.81[EUR][1000 genomes]
rs10786326	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10786327	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10786329	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10786330	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10786332	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10786333	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10786334	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10786335	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882881	0.96[CEU][hapmap]
rs10882883	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10882884	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs10882889	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs10882891	0.87[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10882894	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10882897	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10882898	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10882899	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11189120	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11189122	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11189127	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11189131	0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs11189132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11189137	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11189138	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12221430	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12413688	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12571098	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1334892	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1468069	0.91[CEU][hapmap]
rs1890966	0.96[ASN][1000 genomes]
rs2065861	0.85[CEU][hapmap]
rs2297987	0.91[CEU][hapmap]
rs2861875	0.96[CEU][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap]
rs3740512	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3740522	0.96[CEU][hapmap];0.80[GIH][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs3781373	0.91[CEU][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3814164	0.96[CEU][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap]
rs4919087	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4919089	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4919090	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4919091	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61863767	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6584116	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7067835	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7072078	0.81[EUR][1000 genomes]
rs7076523	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7078288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7080275	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7901853	0.87[CEU][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs945187	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs945189	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4917766	EXOSC1	cis	parietal	SCAN

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99095200-99097200	Weak transcription	Esophagus	oesophagus
2	chr10:99095200-99097400	Enhancers	Stomach Mucosa	stomach
3	chr10:99095200-99097600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:99095200-99097600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:99095200-99109400	Weak transcription	HSMMtube	muscle
6	chr10:99095200-99115200	Weak transcription	Gastric	stomach
7	chr10:99095400-99097200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr10:99095400-99097200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:99095400-99097200	Weak transcription	Aorta	Aorta
10	chr10:99095400-99097200	Enhancers	Brain Anterior Caudate	brain
11	chr10:99095400-99097200	Weak transcription	Colonic Mucosa	Colon
12	chr10:99095400-99097200	Weak transcription	Lung	lung
13	chr10:99095400-99097200	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr10:99095400-99097200	Enhancers	HepG2	liver
15	chr10:99095400-99097400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr10:99095400-99097400	Enhancers	A549	lung
17	chr10:99095400-99097600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:99095400-99097600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:99095400-99098000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:99095400-99098000	Enhancers	Placenta	Placenta
21	chr10:99095400-99098200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr10:99095400-99098600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:99095400-99109400	Weak transcription	Liver	Liver
24	chr10:99095400-99115600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr10:99095400-99115600	Weak transcription	Left Ventricle	heart
26	chr10:99095400-99115600	Weak transcription	Right Ventricle	heart
27	chr10:99095600-99097200	Enhancers	K562	blood
28	chr10:99095600-99098200	Enhancers	Brain Angular Gyrus	brain
29	chr10:99095600-99101800	Weak transcription	Pancreas	Pancrea
30	chr10:99095800-99097600	Enhancers	HMEC	breast
31	chr10:99095800-99098400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr10:99095800-99098400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr10:99095800-99098400	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr10:99096000-99097200	Enhancers	Duodenum Mucosa	Duodenum
35	chr10:99096000-99097400	Flanking Active TSS	NHEK	skin
36	chr10:99096000-99097600	Enhancers	Placenta Amnion	Placenta Amnion
37	chr10:99096000-99098400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr10:99096200-99097200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr10:99096200-99097800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:99096400-99097200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chr10:99096400-99097400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr10:99096400-99097400	Enhancers	Fetal Intestine Small	intestine
43	chr10:99096400-99097600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:99096400-99098200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr10:99096400-99098200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr10:99096400-99098400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr10:99096600-99097400	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr10:99096600-99097400	Enhancers	Psoas Muscle	Psoas
49	chr10:99096600-99097400	Bivalent Enhancer	HSMM	muscle
50	chr10:99096600-99097400	Bivalent Enhancer	NHDF-Ad	bronchial

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