Variant report

Variant	rs2419368
Chromosome Location	chr10:43087295-43087296
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	chr10:43085459..43087807-chr10:43088935..43091913,2	K562	blood:

Variant related genes	Relation type
ENSG00000272373	Chromatin interaction

Extended variants
information (count: 133 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10128322	0.87[CEU][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs10900240	0.82[EUR][1000 genomes]
rs10900251	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10900253	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11239619	0.82[EUR][1000 genomes]
rs11239621	0.82[EUR][1000 genomes]
rs11239622	0.82[EUR][1000 genomes]
rs11239644	0.81[EUR][1000 genomes]
rs11239651	0.81[EUR][1000 genomes]
rs11239661	0.83[EUR][1000 genomes]
rs11239662	0.83[EUR][1000 genomes]
rs11239663	0.83[EUR][1000 genomes]
rs11239668	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11239669	0.86[EUR][1000 genomes]
rs11239670	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11239671	0.86[EUR][1000 genomes]
rs11239672	0.83[EUR][1000 genomes]
rs11239675	0.86[EUR][1000 genomes]
rs11239682	0.82[EUR][1000 genomes]
rs11239707	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11239708	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11239709	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11528552	0.83[EUR][1000 genomes]
rs12217930	0.86[EUR][1000 genomes]
rs12218051	0.82[EUR][1000 genomes]
rs12219232	0.81[EUR][1000 genomes]
rs12221408	0.85[EUR][1000 genomes]
rs12240565	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12242735	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12245618	0.88[EUR][1000 genomes]
rs12256867	1.00[CEU][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12257762	0.82[EUR][1000 genomes]
rs12257897	0.82[EUR][1000 genomes]
rs12259767	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12261023	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12261168	1.00[CEU][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12262549	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12263651	0.82[EUR][1000 genomes]
rs12266387	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12268359	0.82[EUR][1000 genomes]
rs12771775	0.82[EUR][1000 genomes]
rs1413393	1.00[CEU][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs158369	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158379	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158386	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1591248	1.00[CEU][hapmap]
rs17157474	0.82[EUR][1000 genomes]
rs17343205	0.85[CEU][hapmap]
rs17427443	0.85[CEU][hapmap]
rs17428442	0.82[CEU][hapmap]
rs1830491	0.88[EUR][1000 genomes]
rs1831910	0.83[EUR][1000 genomes]
rs1831916	0.81[EUR][1000 genomes]
rs1855448	0.82[EUR][1000 genomes]
rs1855449	0.82[EUR][1000 genomes]
rs2005977	0.86[EUR][1000 genomes]
rs2005978	0.86[EUR][1000 genomes]
rs2016696	0.93[EUR][1000 genomes]
rs209378	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs209379	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs209393	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2297693	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2505883	0.86[LWK][hapmap];0.84[YRI][hapmap]
rs28404481	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3740324	1.00[CEU][hapmap];0.93[YRI][hapmap];0.93[EUR][1000 genomes]
rs3740325	0.86[EUR][1000 genomes]
rs3740328	0.82[EUR][1000 genomes]
rs3758512	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs3758513	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs55904273	0.89[EUR][1000 genomes]
rs55914715	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58635980	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58877883	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60433789	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6593371	0.83[EUR][1000 genomes]
rs6593413	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66635049	0.82[EUR][1000 genomes]
rs672073	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs672077	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7068874	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7069467	0.81[EUR][1000 genomes]
rs7069663	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7071990	0.83[EUR][1000 genomes]
rs7075245	0.83[EUR][1000 genomes]
rs7076534	0.86[EUR][1000 genomes]
rs7078390	0.83[EUR][1000 genomes]
rs7079577	0.82[EUR][1000 genomes]
rs7079581	0.93[EUR][1000 genomes]
rs7082367	0.83[EUR][1000 genomes]
rs7082480	0.81[EUR][1000 genomes]
rs7083254	0.82[EUR][1000 genomes]
rs7085956	0.86[EUR][1000 genomes]
rs7097766	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7098574	0.86[EUR][1000 genomes]
rs7100293	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7100856	0.81[EUR][1000 genomes]
rs73260601	0.86[EUR][1000 genomes]
rs73262610	0.86[EUR][1000 genomes]
rs73262631	0.86[EUR][1000 genomes]
rs73266634	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74137908	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs74137911	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs74137912	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs74137913	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs74137929	0.88[EUR][1000 genomes]
rs7476285	0.81[EUR][1000 genomes]
rs7899665	0.82[EUR][1000 genomes]
rs7900972	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7903632	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7904627	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7905834	0.85[CEU][hapmap]
rs7906532	0.88[EUR][1000 genomes]
rs7910969	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7912057	0.82[EUR][1000 genomes]
rs7916307	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7919880	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7920292	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs7920620	0.86[EUR][1000 genomes]
rs7921658	0.82[EUR][1000 genomes]
rs9730806	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv550670	chr10:42725663-43089965	Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2419368	ZNF33B	cis	lymphoblastoid	seeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43076000-43088400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr10:43077600-43088000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:43077800-43109600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:43080800-43088000	Weak transcription	Right Ventricle	heart
5	chr10:43081000-43087800	Weak transcription	Brain Hippocampus Middle	brain
6	chr10:43081000-43087800	Weak transcription	Psoas Muscle	Psoas
7	chr10:43081400-43087800	Weak transcription	Brain Anterior Caudate	brain
8	chr10:43081800-43092000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
9	chr10:43082000-43092200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:43082200-43092600	ZNF genes & repeats	Liver	Liver
11	chr10:43082600-43091400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr10:43083000-43091400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr10:43083000-43091400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
14	chr10:43083000-43091400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr10:43083000-43094800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
16	chr10:43083200-43091200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
17	chr10:43083200-43091400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
18	chr10:43083400-43091400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
19	chr10:43083800-43091400	ZNF genes & repeats	Primary T cells from cord blood	blood
20	chr10:43084400-43087800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr10:43084400-43088800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr10:43084600-43091400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
23	chr10:43084800-43092600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr10:43085000-43087400	ZNF genes & repeats	Fetal Intestine Large	intestine
25	chr10:43085000-43092400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
26	chr10:43085200-43088000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr10:43085200-43091200	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr10:43085200-43096400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr10:43085400-43091200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
30	chr10:43085600-43091400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
31	chr10:43085600-43092400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:43085800-43088200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr10:43086000-43090600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:43086000-43091400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr10:43086000-43091400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
36	chr10:43086200-43090400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr10:43086200-43091000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
38	chr10:43086200-43091200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
39	chr10:43086200-43091200	Strong transcription	Fetal Thymus	thymus
40	chr10:43086200-43091200	ZNF genes & repeats	A549	lung
41	chr10:43086400-43087400	Strong transcription	K562	blood
42	chr10:43086400-43088200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
43	chr10:43086400-43088200	Strong transcription	Colon Smooth Muscle	Colon
44	chr10:43086400-43088200	Strong transcription	Left Ventricle	heart
45	chr10:43086400-43088800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr10:43086400-43089600	ZNF genes & repeats	Ovary	ovary
47	chr10:43086400-43089800	Strong transcription	Brain Angular Gyrus	brain
48	chr10:43086400-43089800	ZNF genes & repeats	Fetal Muscle Leg	muscle
49	chr10:43086400-43090000	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr10:43086400-43090400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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