Variant report

Variant	rs7914851
Chromosome Location	chr10:92211107-92211108
allele	C/G
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	GATA3	chr10:92210719-92211307	MCF-7	breast:	n/a	chr10:92211010-92211026
2	GATA3	chr10:92210816-92211283	MCF-7	breast:	n/a	chr10:92211010-92211026
3	CBX3	chr10:92210988-92211708	HCT-116	colon:	n/a	n/a
4	POLR2A	chr10:92211080-92211569	HUVEC	blood vessel:	n/a	n/a
5	STAT3	chr10:92210978-92211417	MCF10A-Er-Src	breast:	n/a	n/a
6	GATA2	chr10:92211052-92211600	HUVEC	blood vessel:	n/a	n/a
7	MYC	chr10:92210934-92211604	MCF10A-Er-Src	breast:	n/a	chr10:92211454-92211464
8	SP1	chr10:92210845-92211710	HCT-116	colon:	n/a	n/a
9	KAP1	chr10:92211015-92211666	U2OS	brain:	n/a	n/a
10	FOS	chr10:92210916-92211429	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr10:92210916-92211566	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr10:92210940-92211201	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr10:92211092-92211549	HUVEC	blood vessel:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPP30-10	chr10:92210509-92211238	NONHSAT015588

Variant related genes	Relation type
ENSG00000224750	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10785962	0.83[AFR][1000 genomes]
rs1106067	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11186166	0.83[ASN][1000 genomes]
rs11186171	0.84[ASN][1000 genomes]
rs11186172	0.96[ASN][1000 genomes]
rs11186181	0.96[ASN][1000 genomes]
rs11186186	0.99[ASN][1000 genomes]
rs11186187	0.91[ASN][1000 genomes]
rs11186188	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11812100	0.96[ASN][1000 genomes]
rs12355470	0.81[ASN][1000 genomes]
rs12569945	0.96[ASN][1000 genomes]
rs12573497	0.93[ASN][1000 genomes]
rs12762901	0.91[ASN][1000 genomes]
rs12769624	0.81[ASN][1000 genomes]
rs12781164	0.89[ASN][1000 genomes]
rs1341819	0.96[ASN][1000 genomes]
rs17094670	0.84[ASN][1000 genomes]
rs1773394	0.94[ASW][hapmap];0.83[AFR][1000 genomes]
rs1782700	1.00[ASW][hapmap];1.00[LWK][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs1935250	0.81[ASN][1000 genomes]
rs1938473	0.84[AFR][1000 genomes]
rs2901027	0.80[ASN][1000 genomes]
rs34304562	0.81[ASN][1000 genomes]
rs4933186	0.81[ASN][1000 genomes]
rs4933587	0.94[ASN][1000 genomes]
rs4933588	0.88[ASN][1000 genomes]
rs4933589	0.90[ASN][1000 genomes]
rs55721123	0.88[ASN][1000 genomes]
rs61857623	0.96[ASN][1000 genomes]
rs66616698	0.84[ASN][1000 genomes]
rs7895994	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467430	chr10:91681344-92297943	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv551875	chr10:91681344-92297943	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3375393	chr10:91880933-92243227	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2422237	chr10:91940542-92547558	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1037720	chr10:92063438-92259359	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1052753	chr10:92081093-92565617	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv467432	chr10:92082250-92559908	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv551879	chr10:92082250-92559908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv467433	chr10:92083015-92598458	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv551880	chr10:92083015-92598458	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv516743	chr10:92083015-92605119	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1036256	chr10:92083932-92459915	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1049931	chr10:92083932-92605364	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv948363	chr10:92084520-92614402	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv551881	chr10:92090785-92457733	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv551882	chr10:92090785-92598823	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv1047255	chr10:92095431-92548184	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv540744	chr10:92095431-92548184	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv1054504	chr10:92099335-92590723	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
20	nsv895886	chr10:92113638-92246550	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv1048343	chr10:92132092-92259359	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv551883	chr10:92159044-92334588	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7914851	ANKRD1	cis	cerebellum	SCAN
rs7914851	PIPSL	cis	cerebellum	SCAN
rs7914851	PAPSS2	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:92210200-92211200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr10:92210200-92211400	Enhancers	NH-A	brain
3	chr10:92210200-92211800	Enhancers	NHEK	skin
4	chr10:92210400-92211800	Enhancers	HUVEC	blood vessel
5	chr10:92210800-92211600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr10:92210800-92211600	Enhancers	Osteobl	bone
7	chr10:92210800-92211800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:92210800-92212200	Enhancers	HMEC	breast
9	chr10:92211000-92211600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:92211000-92211800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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