Variant report

Variant	rs9287718
Chromosome Location	chr2:10701629-10701630
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10699769..10703142-chr2:10704473..10707229,3	K562	blood:
2	chr2:10587804..10589799-chr2:10701094..10703339,3	K562	blood:

Variant related genes	Relation type
ENSG00000115758	Chromatin interaction
ENSG00000257135	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10084172	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs10166765	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10168351	0.88[ASN][1000 genomes]
rs10168852	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs10174605	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10175555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175884	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10177062	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10178751	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10179854	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10182589	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10183359	0.88[ASN][1000 genomes]
rs10183883	0.83[ASN][1000 genomes]
rs10186984	0.84[ASW][hapmap];0.92[CEU][hapmap];0.89[CHB][hapmap];0.80[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.88[ASN][1000 genomes]
rs10187659	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10188373	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10190673	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10190774	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10198971	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10199635	0.81[ASN][1000 genomes]
rs10199831	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10202370	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10207885	0.84[ASW][hapmap];0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.88[ASN][1000 genomes]
rs10208103	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10211190	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10803724	0.87[ASN][1000 genomes]
rs10803725	0.87[ASN][1000 genomes]
rs10929677	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10929678	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10929679	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10929680	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10929681	0.84[CHB][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10929683	0.84[ASW][hapmap];0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.88[ASN][1000 genomes]
rs10929684	0.84[ASW][hapmap];0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.88[ASN][1000 genomes]
rs10929685	0.84[ASW][hapmap];0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.88[ASN][1000 genomes]
rs11680664	0.88[ASN][1000 genomes]
rs11684537	0.84[ASW][hapmap];0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.88[ASN][1000 genomes]
rs12104950	0.88[ASN][1000 genomes]
rs12329184	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12473787	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12473957	0.84[ASW][hapmap];0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12474625	0.83[JPT][hapmap]
rs12476554	0.84[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.83[TSI][hapmap];0.88[ASN][1000 genomes]
rs12613769	0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs12618726	0.88[ASN][1000 genomes]
rs12621977	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12622053	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12690510	0.83[ASN][1000 genomes]
rs12692412	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12692414	0.84[ASN][1000 genomes]
rs12692420	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs12995465	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12996735	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13009015	0.87[ASN][1000 genomes]
rs13407040	0.92[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13424648	0.86[ASN][1000 genomes]
rs13425171	0.88[ASN][1000 genomes]
rs13427815	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13430911	0.87[ASN][1000 genomes]
rs1861299	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs1861300	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs2024432	0.84[ASW][hapmap];0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap];0.88[ASN][1000 genomes]
rs2024433	0.88[ASN][1000 genomes]
rs2160258	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2357649	0.81[GIH][hapmap];0.81[JPT][hapmap]
rs2357650	0.81[JPT][hapmap]
rs2884232	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34595606	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55750243	0.88[ASN][1000 genomes]
rs62127189	0.87[ASN][1000 genomes]
rs62128635	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6432105	0.84[ASN][1000 genomes]
rs6711473	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6714787	0.88[ASN][1000 genomes]
rs6717431	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6720112	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6721857	0.84[ASW][hapmap];0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6722126	0.84[ASW][hapmap];0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6730247	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6732429	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap];0.88[ASN][1000 genomes]
rs6740245	0.92[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6751436	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6755281	0.87[ASN][1000 genomes]
rs744809	0.92[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.93[MEX][hapmap];0.81[MKK][hapmap];0.87[TSI][hapmap];0.93[YRI][hapmap]
rs7572489	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7589694	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759401	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7598541	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9287721	0.91[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.93[MEX][hapmap]
rs9973374	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9973456	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1009897	chr2:10627248-10751468	Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv873661	chr2:10675549-10703476	Bivalent Enhancer Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv525241	chr2:10684391-10703476	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv522123	chr2:10696583-10705639	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9287718	NOL10	cis	parietal	SCAN
rs9287718	PDIA6	cis	cerebellum	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10688200-10708800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:10689200-10710600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:10689800-10701800	Weak transcription	Pancreas	Pancrea
4	chr2:10692200-10709600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:10692600-10705400	Weak transcription	Fetal Thymus	thymus
6	chr2:10693000-10708800	Weak transcription	NHEK	skin
7	chr2:10694200-10710000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:10695400-10704600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:10696000-10704400	Weak transcription	Lung	lung
10	chr2:10696000-10709200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:10696000-10710200	Weak transcription	Left Ventricle	heart
12	chr2:10696600-10710000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:10697600-10701800	Weak transcription	NHLF	lung
14	chr2:10697600-10704600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:10697600-10705000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:10697600-10708800	Weak transcription	Thymus	Thymus
17	chr2:10697800-10705600	Weak transcription	Brain Anterior Caudate	brain
18	chr2:10698000-10709000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:10698200-10706000	Weak transcription	Brain Angular Gyrus	brain
20	chr2:10698200-10706000	Weak transcription	NH-A	brain
21	chr2:10698200-10709000	Weak transcription	Dnd41	blood
22	chr2:10698200-10709800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:10698400-10705200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:10698600-10705000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:10698600-10736600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:10698800-10704400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:10698800-10709200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:10698800-10710400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:10699000-10705800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:10699000-10706200	Weak transcription	Gastric	stomach
31	chr2:10699000-10707400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:10699000-10709000	Weak transcription	Esophagus	oesophagus
33	chr2:10699000-10709400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:10699000-10709800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:10699200-10705400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:10699200-10705800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:10699200-10708800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:10699200-10709200	Weak transcription	Liver	Liver
39	chr2:10699400-10705400	Weak transcription	HSMMtube	muscle
40	chr2:10699400-10706000	Weak transcription	Primary B cells from cord blood	blood
41	chr2:10699400-10709000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:10699400-10711000	Weak transcription	GM12878-XiMat	blood
43	chr2:10699400-10716200	Weak transcription	Fetal Brain Male	brain
44	chr2:10699600-10704600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr2:10699600-10704800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:10699600-10709000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:10699800-10705800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr2:10700000-10701800	Strong transcription	Primary T cells from cord blood	blood
49	chr2:10700000-10702000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:10700200-10702000	Genic enhancers	Fetal Stomach	stomach

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