Variant report

Variant	rs1332334
Chromosome Location	chr10:91102579-91102580
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	USF1	chr10:91102330-91102728	SK-N-SH_RA	brain:	n/a	n/a
2	POLR2A	chr10:91101408-91102732	GM12878	blood:	n/a	n/a
3	POLR2A	chr10:91100724-91102693	GM12892	blood:	n/a	n/a
4	REST	chr10:91101516-91103540	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr10:91100688-91102686	GM18951	blood:	n/a	n/a
6	USF1	chr10:91102364-91102652	A549	lung:	n/a	n/a
7	REST	chr10:91102190-91102940	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr10:91102323-91102634	GM12878	blood:	n/a	n/a
9	USF2	chr10:91102322-91102688	Hela-S3	cervix:	n/a	n/a
10	YY1	chr10:91101980-91102823	SK-N-SH	brain:	n/a	chr10:91102467-91102479
11	CEBPB	chr10:91102488-91102727	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr10:91102053-91102898	U87	brain:	n/a	n/a
13	POLR2A	chr10:91101866-91102975	H1-neurons	neurons:	n/a	n/a
14	TAF1	chr10:91102540-91102798	SK-N-SH	brain:	n/a	n/a
15	NFYB	chr10:91102350-91102717	Hela-S3	cervix:	n/a	chr10:91102564-91102579
16	POLR2A	chr10:91100701-91102709	GM19193	blood:	n/a	n/a
17	POLR2A	chr10:91100684-91102860	GM12892	blood:	n/a	n/a
18	POLR2A	chr10:91100788-91103604	GM18526	blood:	n/a	n/a
19	MAFK	chr10:91102428-91102621	IMR90	lung:	n/a	n/a
20	POLR2A	chr10:91102203-91102649	GM12891	blood:	n/a	n/a
21	GATA2	chr10:91102383-91102709	SH-SY5Y	brain:	n/a	n/a
22	POLR2A	chr10:91101771-91102773	GM12878	blood:	n/a	n/a
23	NFYB	chr10:91102423-91102773	GM12878	blood:	n/a	chr10:91102564-91102579
24	YY1	chr10:91102356-91102617	GM12878	blood:	n/a	chr10:91102467-91102479
25	POLR2A	chr10:91102060-91102965	U87	brain:	n/a	n/a
26	YY1	chr10:91102014-91102887	SK-N-SH	brain:	n/a	chr10:91102467-91102479
27	POLR2A	chr10:91100572-91102723	K562	blood:	n/a	n/a
28	FOS	chr10:91102498-91102670	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr10:91100692-91102667	GM12892	blood:	n/a	n/a
30	POLR2A	chr10:91101881-91102772	GM12892	blood:	n/a	n/a
31	POLR2A	chr10:91102153-91102619	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr10:91101853-91102759	GM12878	blood:	n/a	n/a
33	POLR2A	chr10:91101837-91102616	GM12891	blood:	n/a	n/a
34	POLR2A	chr10:91101888-91102746	GM12891	blood:	n/a	n/a
35	YY1	chr10:91102219-91102589	A549	lung:	n/a	chr10:91102467-91102479
36	YY1	chr10:91102160-91102825	SK-N-SH_RA	brain:	n/a	chr10:91102467-91102479
37	POLR2A	chr10:91100334-91104824	GM12891	blood:	n/a	n/a
38	FOS	chr10:91102445-91102672	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr10:91102176-91102882	SK-N-SH	brain:	n/a	n/a
40	CEBPB	chr10:91102502-91102694	IMR90	lung:	n/a	n/a
41	POLR2A	chr10:91100330-91103535	GM12878	blood:	n/a	n/a
42	POLR2A	chr10:91101917-91102954	H1-neurons	neurons:	n/a	n/a
43	TAF1	chr10:91101980-91102838	H1-neurons	neurons:	n/a	n/a
44	MTA3	chr10:91101819-91102583	GM12878	blood:	n/a	n/a
45	FOS	chr10:91102460-91102768	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr10:91102147-91102879	U87	brain:	n/a	n/a
47	POLR2A	chr10:91100429-91103648	GM19099	blood:	n/a	n/a
48	YY1	chr10:91102222-91102731	SK-N-SH_RA	brain:	n/a	chr10:91102467-91102479
49	POLR2A	chr10:91101852-91102694	GM12892	blood:	n/a	n/a
50	NFYB	chr10:91102395-91102682	K562	blood:	n/a	chr10:91102564-91102579

Variant related genes	Relation type
LIPA	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10159512	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10159516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10159652	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10159694	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10159717	0.86[EUR][1000 genomes]
rs10159869	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10159879	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11185734	1.00[CEU][hapmap]
rs11185736	1.00[CEU][hapmap]
rs11203074	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11203075	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11203076	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11203077	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11203081	0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11203082	0.86[EUR][1000 genomes]
rs11203083	0.86[EUR][1000 genomes]
rs11203084	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11203085	0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11203087	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11203091	1.00[TSI][hapmap]
rs11203141	1.00[CEU][hapmap]
rs11813257	1.00[CEU][hapmap]
rs11816805	1.00[CEU][hapmap]
rs12241343	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12242568	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12244506	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12244571	0.94[AFR][1000 genomes]
rs12245627	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12245646	1.00[TSI][hapmap]
rs12250753	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12250860	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12251895	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12256980	1.00[AFR][1000 genomes]
rs12257062	1.00[CEU][hapmap]
rs12259713	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12259768	0.85[AFR][1000 genomes]
rs12261273	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12266581	0.91[ASW][hapmap];0.86[LWK][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1332332	0.91[ASW][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1332333	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1332337	0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1332338	1.00[CEU][hapmap]
rs17118228	1.00[CEU][hapmap]
rs17119593	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17119665	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17119672	0.91[ASW][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17119790	0.91[ASW][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17119791	0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17120040	1.00[CEU][hapmap]
rs17121936	1.00[CEU][hapmap]
rs41284140	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6586185	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6586186	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6586187	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6586189	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6586190	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7080667	1.00[CEU][hapmap]
rs7081163	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7082073	1.00[CEU][hapmap]
rs7088379	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7091558	0.85[AMR][1000 genomes]
rs7093054	1.00[CEU][hapmap]
rs7099668	0.91[ASW][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7099681	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7100115	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7101353	1.00[CEU][hapmap]
rs73367441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73367444	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73367447	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73367460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73368528	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7898580	1.00[CEU][hapmap];0.80[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7901862	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7902096	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7902109	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7902380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7904924	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7906827	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7907230	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7907341	0.80[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7910157	1.00[TSI][hapmap]
rs7910817	1.00[TSI][hapmap]
rs7911396	0.91[ASW][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7916398	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7917725	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7923948	1.00[CEU][hapmap]
rs9663337	0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9663529	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9663530	1.00[CEU][hapmap]
rs9663533	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv1040375	chr10:91022218-91153074	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv34085	chr10:91065949-91174175	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91090200-91107600	Weak transcription	Pancreas	Pancrea
2	chr10:91093800-91106000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr10:91093800-91106400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:91094000-91103400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:91094000-91105400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr10:91094000-91110200	Weak transcription	Colonic Mucosa	Colon
7	chr10:91094000-91112000	Weak transcription	Esophagus	oesophagus
8	chr10:91094200-91103400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr10:91094200-91106800	Weak transcription	Fetal Kidney	kidney
10	chr10:91094200-91108400	Weak transcription	Stomach Mucosa	stomach
11	chr10:91095200-91110400	Weak transcription	Colon Smooth Muscle	Colon
12	chr10:91095600-91105600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr10:91097400-91105600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr10:91097600-91102800	Strong transcription	GM12878-XiMat	blood
15	chr10:91097600-91106200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr10:91097600-91106200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:91097600-91107400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:91097600-91107400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:91098800-91106400	Weak transcription	Psoas Muscle	Psoas
20	chr10:91098800-91111200	Weak transcription	Aorta	Aorta
21	chr10:91099400-91102600	Weak transcription	Dnd41	blood
22	chr10:91099400-91106000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr10:91099400-91106200	Weak transcription	HSMM	muscle
24	chr10:91099400-91107800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr10:91099400-91111000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr10:91099600-91102800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr10:91099600-91106400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr10:91099600-91110400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:91099600-91110800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr10:91099800-91106400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr10:91099800-91110400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr10:91099800-91111000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr10:91100000-91106000	Weak transcription	NHLF	lung
34	chr10:91100000-91106400	Weak transcription	Spleen	Spleen
35	chr10:91100000-91106600	Weak transcription	Primary B cells from cord blood	blood
36	chr10:91100000-91106800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr10:91100000-91107400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr10:91100000-91107600	Weak transcription	Fetal Thymus	thymus
39	chr10:91100000-91110400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr10:91100000-91111000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr10:91100200-91106200	Weak transcription	Fetal Stomach	stomach
42	chr10:91100600-91103000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr10:91100600-91103000	Active TSS	Brain Substantia Nigra	brain
44	chr10:91100600-91106400	Weak transcription	Placenta	Placenta
45	chr10:91100600-91110400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr10:91100800-91102800	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr10:91100800-91106200	Weak transcription	Fetal Lung	lung
48	chr10:91101000-91102600	Active TSS	Brain Hippocampus Middle	brain
49	chr10:91101000-91103800	Enhancers	Fetal Intestine Small	intestine
50	chr10:91101200-91102800	Active TSS	Brain Angular Gyrus	brain

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