Variant report

Variant	rs10783231
Chromosome Location	chr12:48578325-48578326
allele	A/C
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	SIN3A	chr12:48576618-48579251	H1-hESC	embryonic stem cell:	n/a	chr12:48577451-48577460
2	ELF1	chr12:48577870-48578524	GM12878	blood:	n/a	n/a
3	MAX	chr12:48577897-48578780	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr12:48576436-48579525	SK-N-SH	brain:	n/a	chr12:48577343-48577358 chr12:48577345-48577360 chr12:48577379-48577394 chr12:48577381-48577396
5	E2F6	chr12:48577933-48578367	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr12:48576228-48580563	H1-neurons	neurons:	n/a	chr12:48577348-48577357 chr12:48576911-48576924
7	MAX	chr12:48577849-48578831	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr12:48577847-48578788	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr12:48576485-48578340	SK-N-SH	brain:	n/a	n/a
10	CTBP2	chr12:48576803-48578719	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr12:48576694-48580496	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48578276..48580987-chr12:48583534..48585807,2	K562	blood:
2	chr12:48548408..48551386-chr12:48576630..48579457,3	K562	blood:
3	chr12:48576960..48580173-chr12:48592129..48594089,3	MCF-7	breast:
4	chr12:48549998..48552316-chr12:48577251..48580205,2	MCF-7	breast:
5	chr12:48577879..48579746-chr12:48586715..48588244,2	K562	blood:

Variant related genes	Relation type
ASB8	TF binding region
ENSG00000177981	Chromatin interaction
ENSG00000269514	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1018973	0.83[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs10492080	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[ASN][1000 genomes]
rs1074174	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs10783232	0.81[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10783233	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10783237	0.81[ASN][1000 genomes]
rs11168449	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168451	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168455	0.81[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.96[MEX][hapmap];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11609399	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11612578	0.95[JPT][hapmap]
rs11613485	0.83[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs11613781	0.83[ASN][1000 genomes]
rs12822085	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.96[TSI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1476608	0.83[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs1489111	0.95[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap]
rs17122565	0.95[GIH][hapmap];0.95[JPT][hapmap]
rs17122612	0.83[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs17122651	0.83[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs1968071	0.83[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs2054902	0.81[JPT][hapmap]
rs2258342	0.86[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap]
rs2409001	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2634679	0.81[JPT][hapmap]
rs2634699	0.95[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap]
rs2732455	0.85[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap]
rs2732477	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs2732487	0.85[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap]
rs3742074	0.83[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs4075913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4141065	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4760611	0.90[GIH][hapmap];0.95[JPT][hapmap]
rs4760620	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4760683	0.81[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap]
rs4760685	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs4760692	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4760698	0.81[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.96[MEX][hapmap];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57655233	0.83[ASN][1000 genomes]
rs58331734	0.83[ASN][1000 genomes]
rs6580653	0.91[ASN][1000 genomes]
rs6580656	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6580657	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6580660	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs726354	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[ASN][1000 genomes]
rs72644845	0.81[ASN][1000 genomes]
rs72644846	0.81[ASN][1000 genomes]
rs7294641	0.80[AMR][1000 genomes]
rs7296913	0.83[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs7305418	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7312326	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7313023	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7315258	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7485057	0.94[ASW][hapmap];0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7485824	0.91[ASN][1000 genomes]
rs757556	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7963934	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs7969749	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7971668	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs879242	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs901962	0.81[JPT][hapmap]
rs901963	0.81[JPT][hapmap]
rs901964	0.95[CEU][hapmap];0.86[CHB][hapmap];0.80[CHD][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS 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 miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv33956	chr12:48565643-48645561	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10783231	ZNF641	cis	Muscle Skeletal	GTEx
rs10783231	ZNF641	cis	Whole Blood	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48576200-48578600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:48576200-48578600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:48576200-48579000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:48576200-48579000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:48576400-48578800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:48576400-48578800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
7	chr12:48576600-48578400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
8	chr12:48576600-48578400	Bivalent/Poised TSS	Thymus	Thymus
9	chr12:48576600-48578600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr12:48576600-48578600	Bivalent/Poised TSS	HSMM	muscle
11	chr12:48576600-48578800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
12	chr12:48576600-48579000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr12:48576600-48579000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:48576600-48579000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
15	chr12:48576600-48580400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr12:48576800-48578400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr12:48576800-48578400	Flanking Active TSS	Pancreas	Pancrea
18	chr12:48576800-48578600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr12:48576800-48578600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr12:48576800-48578800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr12:48576800-48580000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:48577000-48578400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
23	chr12:48577200-48578600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:48577200-48578600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
25	chr12:48577200-48578600	Bivalent/Poised TSS	Psoas Muscle	Psoas
26	chr12:48577200-48578800	Active TSS	Ovary	ovary
27	chr12:48577200-48579000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:48577400-48578400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:48577400-48578400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
30	chr12:48577400-48578600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:48577400-48578600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
32	chr12:48577400-48578600	Bivalent/Poised TSS	Left Ventricle	heart
33	chr12:48577400-48578800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:48577400-48578800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:48577400-48578800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:48577400-48578800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
37	chr12:48577400-48579000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:48577600-48578400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
39	chr12:48577600-48578600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
40	chr12:48577600-48578600	Bivalent/Poised TSS	NHDF-Ad	bronchial
41	chr12:48577600-48578800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:48577600-48578800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr12:48577800-48578400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:48577800-48578400	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr12:48577800-48578400	Enhancers	Lung	lung
46	chr12:48577800-48578600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
47	chr12:48577800-48578600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
48	chr12:48577800-48578800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
49	chr12:48577800-48578800	Bivalent/Poised TSS	NH-A	brain
50	chr12:48577800-48579000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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