Variant report

Variant	rs17157941
Chromosome Location	chr10:46146746-46146747
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	SPI1	chr10:46146372-46146809	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
ZFAND4	TF binding region

Extended variants
information (count: 158 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs10508895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10508896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.85[ASN][1000 genomes]
rs1060848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12098366	0.85[ASN][1000 genomes]
rs12761573	0.85[ASN][1000 genomes]
rs12762495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12763285	0.85[ASN][1000 genomes]
rs12764652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12765244	0.85[ASN][1000 genomes]
rs12766550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12766764	0.85[ASN][1000 genomes]
rs12771659	0.83[EUR][1000 genomes]
rs12772102	0.85[ASN][1000 genomes]
rs12772485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12773463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs12774453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12774690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs12776291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12777172	0.85[ASN][1000 genomes]
rs12778143	0.85[ASN][1000 genomes]
rs12779005	0.85[ASN][1000 genomes]
rs12779198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12779204	0.85[ASN][1000 genomes]
rs12779281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12779637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12779976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.85[ASN][1000 genomes]
rs12781186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12781506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17157852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17157880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17157884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17157898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17157919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.85[ASN][1000 genomes]
rs17157928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17157931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17157944	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17157945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17157971	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17158898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17159059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs17159087	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17159090	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17159113	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17159119	0.85[EUR][1000 genomes]
rs17451208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17696005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17696011	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17696112	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17768650	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17768692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17768852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1868622	0.80[EUR][1000 genomes]
rs2197982	0.92[EUR][1000 genomes]
rs34011467	0.85[ASN][1000 genomes]
rs34138033	0.85[ASN][1000 genomes]
rs34144887	0.85[ASN][1000 genomes]
rs34163035	0.85[ASN][1000 genomes]
rs34195613	0.85[ASN][1000 genomes]
rs34309840	0.85[ASN][1000 genomes]
rs34383275	0.85[ASN][1000 genomes]
rs34516867	0.85[ASN][1000 genomes]
rs34539215	0.85[ASN][1000 genomes]
rs34574958	0.85[ASN][1000 genomes]
rs34604216	0.85[ASN][1000 genomes]
rs34618850	0.85[ASN][1000 genomes]
rs34670342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.85[ASN][1000 genomes]
rs34793991	0.85[ASN][1000 genomes]
rs35001302	0.85[ASN][1000 genomes]
rs35003524	0.85[ASN][1000 genomes]
rs35034867	0.85[ASN][1000 genomes]
rs35036712	0.85[ASN][1000 genomes]
rs35047800	0.85[ASN][1000 genomes]
rs35049879	0.85[ASN][1000 genomes]
rs35070150	0.85[ASN][1000 genomes]
rs35150810	0.85[ASN][1000 genomes]
rs35183191	0.85[ASN][1000 genomes]
rs35183751	0.85[ASN][1000 genomes]
rs35331393	0.85[ASN][1000 genomes]
rs35506889	0.85[ASN][1000 genomes]
rs35585999	0.85[ASN][1000 genomes]
rs35626777	0.85[ASN][1000 genomes]
rs35629170	0.85[ASN][1000 genomes]
rs35639934	0.85[ASN][1000 genomes]
rs35670420	0.85[ASN][1000 genomes]
rs35713143	0.85[ASN][1000 genomes]
rs35775604	0.80[ASN][1000 genomes]
rs35824277	0.85[ASN][1000 genomes]
rs35916836	0.85[ASN][1000 genomes]
rs35934513	0.85[ASN][1000 genomes]
rs35968565	0.85[ASN][1000 genomes]
rs36053776	0.85[ASN][1000 genomes]
rs36054203	0.85[ASN][1000 genomes]
rs36074276	0.85[ASN][1000 genomes]
rs36100685	0.85[ASN][1000 genomes]
rs36102549	0.80[ASN][1000 genomes]
rs36109121	0.85[ASN][1000 genomes]
rs3802543	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3881624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs41301625	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41301629	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41301631	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4418752	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4442500	0.85[ASN][1000 genomes]
rs4576771	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55814534	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56034881	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56277479	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56388386	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57279747	0.94[EUR][1000 genomes]
rs58849111	0.89[EUR][1000 genomes]
rs59689764	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60791882	0.85[ASN][1000 genomes]
rs71496612	0.85[ASN][1000 genomes]
rs71496613	0.85[ASN][1000 genomes]
rs71496614	0.85[ASN][1000 genomes]
rs71496618	0.85[ASN][1000 genomes]
rs71496619	0.85[ASN][1000 genomes]
rs71496620	0.85[ASN][1000 genomes]
rs71496621	0.85[ASN][1000 genomes]
rs71496622	0.85[ASN][1000 genomes]
rs71496623	0.85[ASN][1000 genomes]
rs71496624	0.85[ASN][1000 genomes]
rs71496625	0.85[ASN][1000 genomes]
rs71499567	0.85[ASN][1000 genomes]
rs73291115	0.85[ASN][1000 genomes]
rs73291121	0.85[ASN][1000 genomes]
rs73291122	0.85[ASN][1000 genomes]
rs73291195	0.85[ASN][1000 genomes]
rs73291198	0.85[ASN][1000 genomes]
rs73292811	1.00[EUR][1000 genomes]
rs73292848	1.00[EUR][1000 genomes]
rs74128806	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs768673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7898761	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs901682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs901683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs901684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9422439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9422440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9422441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9422442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9422650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.85[ASN][1000 genomes]
rs9422651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.85[ASN][1000 genomes]
rs9422652	0.85[ASN][1000 genomes]
rs9422653	0.85[ASN][1000 genomes]
rs9422654	0.85[ASN][1000 genomes]
rs9422655	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs9422657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9422658	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv895112	chr10:46012620-46202216	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1050880	chr10:46091441-46160597	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv540588	chr10:46091441-46160597	ZNF genes & repeats Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv895113	chr10:46134013-46167847	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv540589	chr10:46136345-46153760	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17157941	ZFAND4	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:46090600-46167600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:46098200-46153400	Weak transcription	HSMM	muscle
3	chr10:46104400-46151400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr10:46108000-46155800	Weak transcription	Brain Angular Gyrus	brain
5	chr10:46108400-46149400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr10:46108400-46167000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:46108600-46149200	Weak transcription	Brain Hippocampus Middle	brain
8	chr10:46108600-46155400	Weak transcription	Fetal Intestine Small	intestine
9	chr10:46110200-46153800	Weak transcription	NH-A	brain
10	chr10:46110800-46156800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:46112200-46152400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr10:46119800-46148200	Weak transcription	Colonic Mucosa	Colon
13	chr10:46120000-46157800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr10:46120200-46148400	Weak transcription	Small Intestine	intestine
15	chr10:46122200-46154600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr10:46122200-46157200	Weak transcription	Gastric	stomach
17	chr10:46122400-46149000	Weak transcription	Brain Substantia Nigra	brain
18	chr10:46122400-46156400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:46130800-46147600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:46133800-46157800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr10:46134800-46147600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:46137200-46167000	Weak transcription	Right Ventricle	heart
23	chr10:46137600-46149000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:46137600-46156600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr10:46137600-46167200	Weak transcription	Ovary	ovary
26	chr10:46138000-46148200	Weak transcription	Fetal Brain Female	brain
27	chr10:46138400-46156600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr10:46138600-46147400	Strong transcription	Primary T cells from cord blood	blood
29	chr10:46138600-46148000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr10:46139400-46148000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr10:46140600-46150200	Weak transcription	HepG2	liver
32	chr10:46141200-46147200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr10:46141600-46148200	Weak transcription	HUVEC	blood vessel
34	chr10:46141800-46148800	Strong transcription	Primary B cells from cord blood	blood
35	chr10:46142400-46158000	Weak transcription	A549	lung
36	chr10:46142800-46148200	Weak transcription	Spleen	Spleen
37	chr10:46142800-46152200	Weak transcription	Thymus	Thymus
38	chr10:46142800-46155200	Weak transcription	Pancreas	Pancrea
39	chr10:46142800-46155600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr10:46142800-46156400	Weak transcription	Fetal Stomach	stomach
41	chr10:46142800-46156800	Weak transcription	Lung	lung
42	chr10:46142800-46167000	Weak transcription	Esophagus	oesophagus
43	chr10:46142800-46167000	Weak transcription	Psoas Muscle	Psoas
44	chr10:46142800-46167000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr10:46142800-46167200	Weak transcription	Aorta	Aorta
46	chr10:46143000-46154400	Weak transcription	Fetal Muscle Leg	muscle
47	chr10:46143000-46156200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr10:46143200-46148200	Weak transcription	GM12878-XiMat	blood
49	chr10:46143200-46153600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr10:46143200-46154400	Weak transcription	Placenta Amnion	Placenta Amnion

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