Variant report

Variant	rs7632381
Chromosome Location	chr3:141106063-141106064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr3:141105587-141106075	SH-SY5Y	brain:	n/a	n/a
2	TBL1XR1	chr3:141105588-141106689	GM12878	blood:	n/a	n/a
3	MXI1	chr3:141105581-141107082	GM12878	blood:	n/a	n/a
4	CHD1	chr3:141104709-141108325	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:141104500-141106316	U87	brain:	n/a	n/a
6	REST	chr3:141104388-141107025	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr3:141104880-141106178	GM12878	blood:	n/a	n/a
8	STAT5A	chr3:141104407-141106765	GM12878	blood:	n/a	chr3:141104969-141104981 chr3:141104686-141104698
9	POLR2A	chr3:141104282-141106914	GM12878	blood:	n/a	n/a
10	CEBPB	chr3:141105497-141106084	K562	blood:	n/a	n/a
11	POLR2A	chr3:141102275-141108652	GM12892	blood:	n/a	n/a
12	NFATC1	chr3:141104559-141106126	GM12878	blood:	n/a	n/a
13	MXI1	chr3:141103587-141107076	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr3:141104427-141106788	GM15510	blood:	n/a	n/a
15	NFIC	chr3:141102247-141106881	GM12878	blood:	n/a	chr3:141104154-141104170
16	TAF1	chr3:141105427-141106085	GM12878	blood:	n/a	n/a
17	POLR2A	chr3:141103827-141106384	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr3:141102361-141107014	U87	brain:	n/a	n/a
19	TBP	chr3:141105438-141106830	GM12878	blood:	n/a	n/a
20	POLR2A	chr3:141104605-141106814	Raji	blood:	n/a	n/a
21	MTA3	chr3:141102180-141106932	GM12878	blood:	n/a	n/a
22	FOXP2	chr3:141105507-141106079	SK-N-MC	brain:	n/a	n/a
23	CEBPB	chr3:141105565-141106131	HepG2	liver:	n/a	n/a
24	KAP1	chr3:141105134-141106225	U2OS	brain:	n/a	n/a
25	MEF2A	chr3:141105776-141106615	GM12878	blood:	n/a	n/a
26	ATF2	chr3:141105332-141106803	GM12878	blood:	n/a	n/a
27	YY1	chr3:141105449-141106063	GM12878	blood:	n/a	n/a
28	POLR2A	chr3:141105346-141106143	GM12878	blood:	n/a	n/a
29	PML	chr3:141104255-141106832	GM12878	blood:	n/a	n/a
30	TEAD4	chr3:141105404-141106077	K562	blood:	n/a	n/a
31	POLR2A	chr3:141101478-141106905	GM19099	blood:	n/a	n/a
32	POLR2A	chr3:141104500-141106687	U87	brain:	n/a	n/a
33	POLR2A	chr3:141101516-141106882	GM12878	blood:	n/a	n/a
34	YY1	chr3:141105541-141106071	GM12878	blood:	n/a	n/a
35	ZNF384	chr3:141106044-141106881	GM12878	blood:	n/a	n/a
36	POLR2A	chr3:141104136-141106779	GM12892	blood:	n/a	n/a
37	POLR2A	chr3:141104553-141106659	GM18526	blood:	n/a	n/a
38	MTA3	chr3:141105332-141106842	GM12878	blood:	n/a	n/a
39	POLR2A	chr3:141102232-141107020	U87	brain:	n/a	n/a
40	YY1	chr3:141105660-141106065	SK-N-SH_RA	brain:	n/a	n/a
41	RUNX3	chr3:141104569-141106069	GM12878	blood:	n/a	n/a
42	POLR2A	chr3:141104292-141106783	GM12892	blood:	n/a	n/a
43	YY1	chr3:141105627-141106122	SK-N-SH_RA	brain:	n/a	n/a
44	PML	chr3:141105507-141106089	GM12878	blood:	n/a	n/a
45	CEBPB	chr3:141105478-141106151	IMR90	lung:	n/a	n/a
46	BCLAF1	chr3:141104586-141106880	GM12878	blood:	n/a	n/a
47	CEBPB	chr3:141105584-141106184	A549	lung:	n/a	n/a
48	POLR2A	chr3:141104725-141106134	GM18951	blood:	n/a	n/a
49	POLR2A	chr3:141101505-141108266	GM18505	blood:	n/a	n/a
50	TAF1	chr3:141105344-141106133	H1-neurons	neurons:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141086746..141089442-chr3:141102578..141106319,5	K562	blood:
2	chr3:141106008..141109150-chr3:141119369..141122507,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACPL2-3	chr3:141105714-141106420	NONHSAT092430
2	lnc-ACPL2-3	chr3:141105714-141108679	NONHSAT092429

No data

Variant related genes	Relation type
ZBTB38	TF binding region
ENSG00000177311	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs13068733	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13077048	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1344672	0.90[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1344674	0.90[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1346408	0.81[CEU][hapmap]
rs1582874	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1863868	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs1991431	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2871960	0.90[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4683605	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4683606	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57345461	0.97[ASN][1000 genomes]
rs58473751	0.97[ASN][1000 genomes]
rs6440003	0.90[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6440006	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6762826	0.90[JPT][hapmap]
rs6763927	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6763931	0.90[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6764769	0.90[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6785012	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6802753	0.84[JPT][hapmap]
rs6808936	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs724016	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7613516	0.81[CEU][hapmap]
rs7624084	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7625643	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7650602	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9846396	1.00[CEU][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9853018	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9856584	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141087000-141107800	Weak transcription	Pancreas	Pancrea
2	chr3:141088400-141107600	Weak transcription	Small Intestine	intestine
3	chr3:141089200-141115800	Weak transcription	Psoas Muscle	Psoas
4	chr3:141091000-141107200	Weak transcription	Liver	Liver
5	chr3:141094800-141112200	Weak transcription	Spleen	Spleen
6	chr3:141096000-141111000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:141096200-141106400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:141098400-141107600	Weak transcription	Aorta	Aorta
9	chr3:141098600-141115200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:141099000-141110400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:141099400-141106600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr3:141099600-141109800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:141099800-141106800	Strong transcription	Left Ventricle	heart
14	chr3:141100600-141112400	Weak transcription	Lung	lung
15	chr3:141102400-141107600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:141102800-141111800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:141102800-141112000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:141103200-141107000	Genic enhancers	Osteobl	bone
19	chr3:141103200-141107600	Weak transcription	Hela-S3	cervix
20	chr3:141103200-141107800	Weak transcription	Stomach Mucosa	stomach
21	chr3:141103200-141111000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:141103600-141106800	Strong transcription	NH-A	brain
23	chr3:141103600-141107800	Strong transcription	HSMM	muscle
24	chr3:141103600-141110200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:141103800-141107600	Active TSS	Brain Angular Gyrus	brain
26	chr3:141103800-141109000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:141104000-141108800	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr3:141104000-141109600	Active TSS	Brain Anterior Caudate	brain
29	chr3:141104200-141106600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:141104200-141106600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:141104200-141106800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr3:141104200-141107000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:141104200-141108200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr3:141104400-141106200	Active TSS	Brain Hippocampus Middle	brain
35	chr3:141104400-141106600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr3:141104400-141108200	Active TSS	Primary T cells fromperipheralblood	blood
37	chr3:141104800-141106400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr3:141104800-141106600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:141104800-141106600	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr3:141104800-141106800	Active TSS	Primary B cells from peripheral blood	blood
41	chr3:141104800-141107400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:141104800-141107600	Active TSS	Brain Cingulate Gyrus	brain
43	chr3:141104800-141108400	Active TSS	Stomach Smooth Muscle	stomach
44	chr3:141105000-141108000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr3:141105200-141106600	Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr3:141105200-141110200	Weak transcription	Fetal Heart	heart
47	chr3:141105400-141106400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:141105400-141106800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr3:141105400-141106800	ZNF genes & repeats	Fetal Brain Male	brain
50	chr3:141105400-141107000	Flanking Active TSS	NHEK	skin

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