Variant report

Variant	rs10849582
Chromosome Location	chr12:1013176-1013177
allele	A/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	SPI1	chr12:1013036-1013391	GM12891	blood:	n/a	chr12:1013239-1013252 chr12:1013240-1013253 chr12:1013242-1013251 chr12:1013239-1013252
2	GATA3	chr12:1013059-1013473	SH-SY5Y	brain:	n/a	chr12:1013243-1013253
3	ELF1	chr12:1013103-1013488	K562	blood:	n/a	chr12:1013240-1013251 chr12:1013241-1013252
4	SPI1	chr12:1013065-1013342	GM12891	blood:	n/a	chr12:1013239-1013252 chr12:1013240-1013253 chr12:1013242-1013251 chr12:1013239-1013252
5	EP300	chr12:1013163-1013661	K562	blood:	n/a	chr12:1013242-1013251 chr12:1013241-1013255
6	SPI1	chr12:1012935-1013578	HL-60	blood:	n/a	chr12:1013239-1013252 chr12:1013240-1013253 chr12:1013242-1013251 chr12:1013239-1013252
7	GATA1	chr12:1013033-1014147	PBDE	blood:	n/a	chr12:1013243-1013253
8	SPI1	chr12:1013056-1013485	HL-60	blood:	n/a	chr12:1013239-1013252 chr12:1013240-1013253 chr12:1013242-1013251 chr12:1013239-1013252
9	GATA2	chr12:1013099-1013777	K562	blood:	n/a	chr12:1013243-1013253
10	JUND	chr12:1013051-1013465	K562	blood:	n/a	n/a
11	SPI1	chr12:1012852-1013593	GM12878	blood:	n/a	chr12:1013239-1013252 chr12:1013240-1013253 chr12:1013242-1013251 chr12:1013239-1013252
12	SPI1	chr12:1013104-1013373	K562	blood:	n/a	chr12:1013239-1013252 chr12:1013240-1013253 chr12:1013242-1013251 chr12:1013239-1013252
13	RCOR1	chr12:1013158-1013604	K562	blood:	n/a	n/a
14	GATA2	chr12:1013127-1013591	SH-SY5Y	brain:	n/a	chr12:1013243-1013253
15	POLR2A	chr12:1012881-1013634	K562	blood:	n/a	n/a
16	CEBPD	chr12:1013147-1013841	K562	blood:	n/a	n/a
17	TEAD4	chr12:1013052-1013756	K562	blood:	n/a	n/a
18	POLR2A	chr12:1013106-1014163	HepG2	liver:	n/a	n/a
19	SPI1	chr12:1013139-1013346	GM12878	blood:	n/a	chr12:1013239-1013252 chr12:1013240-1013253 chr12:1013242-1013251 chr12:1013239-1013252
20	SPI1	chr12:1013115-1013356	K562	blood:	n/a	chr12:1013239-1013252 chr12:1013240-1013253 chr12:1013242-1013251 chr12:1013239-1013252
21	CEBPD	chr12:1013160-1013735	K562	blood:	n/a	n/a
22	SPI1	chr12:1013082-1013351	GM12878	blood:	n/a	chr12:1013239-1013252 chr12:1013240-1013253 chr12:1013242-1013251 chr12:1013239-1013252
23	ELF1	chr12:1013100-1013334	K562	blood:	n/a	chr12:1013240-1013251 chr12:1013241-1013252

No.	Distal block	Cell Line	Cell type
1	chr12:1011965..1016701-chr12:1017001..1021007,7	K562	blood:
2	chr12:1007023..1009524-chr12:1012315..1014770,2	MCF-7	breast:
3	chr12:1004472..1007497-chr12:1008864..1013280,3	K562	blood:
4	chr12:1011675..1016122-chr12:1018154..1021007,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERC1-3	chr12:1011722-1016190	NONHSAT025371

Variant related genes	Relation type
WNK1	TF binding region
ENSG00000060237	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10744727	0.81[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849576	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12828016	0.92[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1986231	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2255390	0.82[AFR][1000 genomes]
rs2286026	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4766373	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7305099	0.88[CEU][hapmap];0.91[GIH][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs7962050	0.95[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs880054	0.94[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541305	chr12:282465-1016828	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv869390	chr12:282465-1045994	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1049944	chr12:282465-1232077	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv541306	chr12:282465-1232077	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1044433	chr12:321619-1065402	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv541323	chr12:321619-1065402	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats 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	58 gene(s)	inside rSNPs	diseases
7	nsv949469	chr12:380411-1122450	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	nsv556890	chr12:662448-1100555	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
9	nsv556892	chr12:673515-1210884	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	nsv898576	chr12:813411-1553450	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
11	nsv948760	chr12:863833-1542875	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1042333	chr12:907975-1081509	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv1052589	chr12:910460-1421493	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
15	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
16	nsv468960	chr12:975276-1455106	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	nsv556941	chr12:975276-1455106	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
18	nsv1044329	chr12:985144-1403020	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
19	nsv541340	chr12:985144-1403020	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	nsv1053198	chr12:993822-1034603	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
21	nsv541341	chr12:993822-1034603	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
22	nsv1041675	chr12:993822-1091354	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
23	nsv470256	chr12:998365-1438761	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
24	nsv492321	chr12:1011692-1388512	Weak transcription Active TSS Enhancers 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	33 gene(s)	inside rSNPs	diseases
25	nsv898579	chr12:1013176-1510505	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10849582	RAD52	cis	cerebellum	SCAN
rs10849582	RAD52	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:964400-1042200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:964600-1027200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:965800-1014000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:965800-1028400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:966000-1014800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:980000-1013200	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:982200-1027000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:986200-1042200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:986400-1014800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:986800-1014600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr12:986800-1028400	Strong transcription	Placenta	Placenta
12	chr12:987000-1014800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr12:987000-1017600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:987000-1020800	Strong transcription	Adipose Nuclei	Adipose
15	chr12:987000-1022400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:987000-1023600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:987000-1028400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:987000-1028800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:987000-1041200	Strong transcription	Fetal Intestine Large	intestine
20	chr12:987200-1024400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:987200-1024400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr12:988600-1029400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr12:988800-1023600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:989200-1042200	Strong transcription	Fetal Muscle Leg	muscle
25	chr12:989400-1028400	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:995200-1014800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:995200-1025800	Weak transcription	Stomach Mucosa	stomach
28	chr12:997200-1013200	Strong transcription	Fetal Thymus	thymus
29	chr12:1001400-1024400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:1001600-1014000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:1001800-1028200	Strong transcription	HepG2	liver
32	chr12:1003000-1024400	Strong transcription	Primary B cells from cord blood	blood
33	chr12:1003400-1023200	Strong transcription	Dnd41	blood
34	chr12:1003400-1024600	Strong transcription	HMEC	breast
35	chr12:1003600-1014800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr12:1003600-1028000	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:1003600-1028200	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr12:1003600-1028400	Strong transcription	NHDF-Ad	bronchial
39	chr12:1004200-1027200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:1004400-1041200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:1004800-1018400	Strong transcription	Right Ventricle	heart
42	chr12:1004800-1019000	Strong transcription	Fetal Stomach	stomach
43	chr12:1004800-1019400	Strong transcription	Esophagus	oesophagus
44	chr12:1004800-1020600	Strong transcription	Left Ventricle	heart
45	chr12:1004800-1022800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:1004800-1037400	Strong transcription	Fetal Lung	lung
47	chr12:1005000-1019600	Strong transcription	Fetal Brain Female	brain
48	chr12:1005000-1028000	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:1005200-1018000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:1005200-1028800	Strong transcription	Rectal Smooth Muscle	rectum

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