Variant report

Variant	rs12256744
Chromosome Location	chr10:43125767-43125768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43124209..43130093-chr10:43131977..43134761,6	K562	blood:
2	chr10:43125083..43130093-chr10:43132029..43136060,7	K562	blood:

Variant related genes	Relation type
ENSG00000196693	Chromatin interaction
ENSG00000272373	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10128322	0.81[ASW][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.92[MEX][hapmap];0.91[ASN][1000 genomes]
rs11239695	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11239707	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11239708	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11239709	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12219669	1.00[CEU][hapmap]
rs12240565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12242735	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12245618	0.91[ASN][1000 genomes]
rs12247715	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12253566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs12255518	1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs12256867	0.83[ASW][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[ASN][1000 genomes]
rs12260943	0.95[YRI][hapmap];0.97[AFR][1000 genomes]
rs12260958	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12261023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12261168	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.84[MEX][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12262549	0.94[ASN][1000 genomes]
rs12262782	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs12265792	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12266387	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12268051	1.00[ASW][hapmap];0.96[LWK][hapmap];0.90[MKK][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs12268549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12269593	0.95[AFR][1000 genomes]
rs1413393	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17157476	0.88[ASN][1000 genomes]
rs17157513	0.83[ASN][1000 genomes]
rs17157528	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17158029	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1830491	0.89[ASN][1000 genomes]
rs1831914	1.00[CEU][hapmap]
rs2297693	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs28404481	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs28454399	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3740326	1.00[CEU][hapmap]
rs55904273	0.86[ASN][1000 genomes]
rs55914715	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs56355729	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57084246	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58635980	0.91[ASN][1000 genomes]
rs58877883	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59127969	0.81[AMR][1000 genomes]
rs60433789	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7069467	0.88[ASN][1000 genomes]
rs7071990	0.88[ASN][1000 genomes]
rs7078390	0.88[ASN][1000 genomes]
rs7079577	0.88[ASN][1000 genomes]
rs7082367	0.88[ASN][1000 genomes]
rs7097766	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7100293	0.91[ASN][1000 genomes]
rs73266634	1.00[ASN][1000 genomes]
rs74137906	0.97[AFR][1000 genomes]
rs74137907	0.97[AFR][1000 genomes]
rs74137908	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs74137910	0.97[AFR][1000 genomes]
rs74137911	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74137912	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74137913	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74137915	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74137917	0.98[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs74137918	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs74137922	0.81[AFR][1000 genomes]
rs74137928	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs74137929	0.91[ASN][1000 genomes]
rs7900972	0.83[ASN][1000 genomes]
rs7903632	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7904627	0.88[ASN][1000 genomes]
rs7906532	0.91[ASN][1000 genomes]
rs7910969	0.88[ASN][1000 genomes]
rs7912057	0.88[ASN][1000 genomes]
rs7916307	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7919880	0.83[ASN][1000 genomes]
rs7919927	0.81[ASW][hapmap];0.96[LWK][hapmap];0.93[MKK][hapmap];0.84[AFR][1000 genomes]
rs7921258	0.89[ASN][1000 genomes]
rs7921658	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817455	chr10:42607635-43151812	Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv895064	chr10:42783481-43243325	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv533331	chr10:42830221-43356410	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription 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	35 gene(s)	inside rSNPs	diseases
5	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
9	nsv469725	chr10:42965130-43178323	Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv482513	chr10:42965130-43178323	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
12	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
13	nsv975036	chr10:43090222-43132879	ZNF genes & repeats Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	esv2757381	chr10:43104068-43352995	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
15	esv34929	chr10:43116194-43329770	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12256744	ZNF33B	cis	lymphoblastoid	seeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43089800-43126000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr10:43089800-43133000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:43089800-43133000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr10:43089800-43133000	Weak transcription	Right Ventricle	heart
5	chr10:43090800-43133000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr10:43091200-43126000	Weak transcription	Small Intestine	intestine
7	chr10:43091200-43132800	Weak transcription	Colon Smooth Muscle	Colon
8	chr10:43091400-43132400	Weak transcription	HMEC	breast
9	chr10:43091400-43132800	Weak transcription	Colonic Mucosa	Colon
10	chr10:43094400-43133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:43095400-43126000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr10:43095600-43125800	Weak transcription	HUVEC	blood vessel
13	chr10:43101000-43133000	Weak transcription	NH-A	brain
14	chr10:43102000-43126200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:43102000-43132000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:43106200-43132600	Weak transcription	Fetal Heart	heart
17	chr10:43107000-43133000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr10:43107400-43129000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr10:43108000-43133200	Weak transcription	Psoas Muscle	Psoas
20	chr10:43109000-43133200	Weak transcription	Aorta	Aorta
21	chr10:43109800-43126000	Weak transcription	Fetal Brain Male	brain
22	chr10:43109800-43126000	Weak transcription	Fetal Muscle Leg	muscle
23	chr10:43111200-43133000	Weak transcription	Brain Hippocampus Middle	brain
24	chr10:43111600-43128400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:43111600-43132800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr10:43116000-43130000	Weak transcription	Stomach Mucosa	stomach
27	chr10:43117200-43128400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr10:43117600-43133000	Weak transcription	Brain Angular Gyrus	brain
29	chr10:43117800-43127800	Strong transcription	Fetal Intestine Large	intestine
30	chr10:43117800-43129000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr10:43118000-43129200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr10:43118200-43129600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr10:43118200-43133000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr10:43118200-43133000	Weak transcription	HSMM	muscle
35	chr10:43118200-43133000	Weak transcription	NHLF	lung
36	chr10:43118400-43130200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr10:43119200-43126000	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr10:43119400-43127800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr10:43119600-43126000	Weak transcription	Fetal Stomach	stomach
40	chr10:43119600-43127400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr10:43119600-43133200	Weak transcription	Gastric	stomach
42	chr10:43119800-43126000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr10:43119800-43126000	Weak transcription	Left Ventricle	heart
44	chr10:43119800-43126200	Weak transcription	Esophagus	oesophagus
45	chr10:43119800-43127800	Strong transcription	Adipose Nuclei	Adipose
46	chr10:43119800-43132400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr10:43119800-43132400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr10:43119800-43133000	Weak transcription	Brain Anterior Caudate	brain
49	chr10:43119800-43133000	Weak transcription	Brain Substantia Nigra	brain
50	chr10:43119800-43133000	Weak transcription	Rectal Smooth Muscle	rectum

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