Variant report

Variant	rs7486338
Chromosome Location	chr12:9544444-9544445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9539959..9542936-chr12:9543055..9546745,3	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10843459	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10843579	0.90[ASN][1000 genomes]
rs10843607	0.90[ASN][1000 genomes]
rs11050246	0.89[ASN][1000 genomes]
rs11050303	0.89[ASN][1000 genomes]
rs11050304	0.89[ASN][1000 genomes]
rs11050310	0.89[ASN][1000 genomes]
rs11050397	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11050527	0.90[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050586	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050592	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050604	1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050605	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12370449	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12370767	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12372791	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17804845	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17804911	0.91[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2113904	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2194829	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34591612	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36132622	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4268554	0.90[ASN][1000 genomes]
rs4548677	0.90[ASN][1000 genomes]
rs4883242	0.89[ASN][1000 genomes]
rs55635549	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55693818	1.00[ASN][1000 genomes]
rs56014159	0.89[ASN][1000 genomes]
rs56236944	0.89[ASN][1000 genomes]
rs56366134	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7295431	0.89[ASN][1000 genomes]
rs7302181	0.89[ASN][1000 genomes]
rs73047561	0.89[ASN][1000 genomes]
rs7310088	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7315769	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9668938	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
3	nsv523958	chr12:9303440-9549072	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1035953	chr12:9314481-9544655	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
5	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
6	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
7	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
8	nsv916832	chr12:9397450-9693952	ZNF genes & repeats Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv898740	chr12:9436446-9546962	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1050161	chr12:9436635-9685768	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv898741	chr12:9458525-9546962	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv1035958	chr12:9472365-9579109	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv898744	chr12:9518222-9668380	Flanking Active TSS Enhancers Weak transcription Strong transcription 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	15 gene(s)	inside rSNPs	diseases
14	nsv1049903	chr12:9521487-9546454	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv898745	chr12:9529015-9716126	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	esv1825533	chr12:9541542-9736409	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv8905	chr12:9542162-9548307	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	esv1795205	chr12:9542718-9559624	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	esv1816184	chr12:9542718-9559624	Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	esv1801325	chr12:9542918-9561619	Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
21	esv1817147	chr12:9542918-9561619	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
22	esv1831904	chr12:9542918-9561619	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
23	esv1848205	chr12:9542918-9561619	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7486338	DDX11///DDX12///LOC642846	Cis_chr	lymphoblastoid	RTeQTL
rs7486338	LOC728715///OVOS2	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9533600-9548800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:9540600-9555200	Weak transcription	Fetal Thymus	thymus
3	chr12:9540600-9555400	Weak transcription	Thymus	Thymus
4	chr12:9540800-9548600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:9541400-9557200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:9541600-9548800	Weak transcription	Spleen	Spleen
7	chr12:9541800-9557400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:9542600-9548600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:9542800-9545600	Weak transcription	K562	blood
10	chr12:9542800-9555400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:9542800-9555600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:9543200-9546200	Weak transcription	Fetal Lung	lung
13	chr12:9543400-9545200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:9543400-9545400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:9544000-9545400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:9544000-9545600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr12:9544000-9545800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:9544200-9544800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:9544200-9544800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr12:9544200-9544800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:9544200-9545400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:9544200-9545400	Enhancers	Fetal Intestine Large	intestine
23	chr12:9544400-9544600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:9544400-9544800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr12:9544400-9544800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr12:9544400-9544800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr12:9544400-9544800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr12:9544400-9544800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:9544400-9544800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr12:9544400-9544800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:9544400-9544800	Enhancers	Ovary	ovary
32	chr12:9544400-9545200	Enhancers	Fetal Kidney	kidney
33	chr12:9544400-9545400	Enhancers	HepG2	liver

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