Variant report

Variant	rs10760021
Chromosome Location	chr9:100697648-100697649
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100697076..100699494-chr9:100808652..100811016,2	K562	blood:
2	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
3	chr9:100696013..100699012-chr9:100772945..100774984,2	K562	blood:
4	chr9:100695365..100698357-chr9:100723425..100724999,2	K562	blood:
5	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:

Variant related genes	Relation type
ENSG00000236896	Chromatin interaction
ENSG00000136938	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10760022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10984349	0.84[JPT][hapmap]
rs10984361	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10984373	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10984405	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10984462	0.84[JPT][hapmap]
rs10984466	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10984499	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10984506	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1127703	0.84[JPT][hapmap]
rs12377604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1475695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1475696	0.84[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17431614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17431934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2120263	0.86[CHB][hapmap];0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2282192	0.86[CHB][hapmap];0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2417577	0.93[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3183927	0.93[CHB][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3183928	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3758253	0.93[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758254	0.93[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780416	0.84[JPT][hapmap]
rs3780420	0.93[CHB][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3824496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4618817	0.84[JPT][hapmap]
rs4631576	0.93[CHB][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743145	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4743147	0.91[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55737216	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66990486	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7025609	0.84[JPT][hapmap]
rs7030887	0.84[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7030907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs755109	0.84[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7861658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7864655	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893611	chr9:100561055-100739888	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1048135	chr9:100666931-100717030	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10760021	Hs.43687	cis	multi-tissue	Pritchard
rs10760021	C9orf156	cis	Esophagus Muscularis	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100693400-100700400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr9:100694400-100699200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr9:100694600-100700000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr9:100695200-100699600	Transcr. at gene 5' and 3'	K562	blood
5	chr9:100695400-100699000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr9:100695600-100700000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr9:100695800-100698800	Enhancers	Fetal Thymus	thymus
8	chr9:100696000-100697800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr9:100696000-100700000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr9:100696600-100698000	Enhancers	Primary T cells from cord blood	blood
11	chr9:100696600-100698800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr9:100696800-100697800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:100696800-100697800	Enhancers	Brain Hippocampus Middle	brain
14	chr9:100696800-100698000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr9:100696800-100698600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr9:100697000-100697800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr9:100697000-100698000	Enhancers	Brain Cingulate Gyrus	brain
18	chr9:100697000-100698000	Enhancers	Thymus	Thymus
19	chr9:100697000-100700200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr9:100697200-100698000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr9:100697200-100698400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells	blood
22	chr9:100697200-100701600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr9:100697400-100697800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:100697400-100697800	Enhancers	Brain Anterior Caudate	brain
25	chr9:100697400-100701600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr9:100697600-100697800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:100697600-100698000	Enhancers	Dnd41	blood
28	chr9:100697600-100698400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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