Variant report

Variant	rs2211597
Chromosome Location	chr10:90844007-90844008
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:90836807..90840202-chr10:90842627..90846044,3	K562	blood:
2	chr10:90837544..90840360-chr10:90843799..90846492,3	K562	blood:
3	chr10:90843656..90845786-chr10:90848241..90850015,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10788633	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10887910	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10887911	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10887912	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11202948	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11202953	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11202958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11202961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11202964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11202972	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11202979	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11202983	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11202989	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1317361	0.85[ASN][1000 genomes]
rs1937339	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2154253	0.83[AFR][1000 genomes]
rs2211596	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2226246	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4934438	0.83[AFR][1000 genomes]
rs4934441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4934443	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4934444	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv831943	chr10:90664836-90865834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv467416	chr10:90815975-90889997	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv551842	chr10:90815975-90889997	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
6	nsv895880	chr10:90816060-90874029	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
7	nsv831944	chr10:90822654-90967018	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
8	nsv467418	chr10:90826252-90874468	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv551843	chr10:90826252-90874468	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv2829934	chr10:90826779-90874468	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv2758235	chr10:90835064-91017486	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv2759775	chr10:90835064-91017486	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv895881	chr10:90842431-90940003	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90839200-90844600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr10:90839600-90844600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr10:90840200-90846000	Weak transcription	Adipose Nuclei	Adipose
4	chr10:90840400-90845000	Weak transcription	Psoas Muscle	Psoas
5	chr10:90840600-90844400	Weak transcription	NHDF-Ad	bronchial
6	chr10:90840600-90844400	Weak transcription	NHLF	lung
7	chr10:90840600-90845000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:90840600-90845000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:90840600-90845000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:90840800-90844400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr10:90840800-90846400	Weak transcription	K562	blood
12	chr10:90841000-90844400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:90841000-90846200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr10:90841800-90861000	Weak transcription	Aorta	Aorta
15	chr10:90842000-90851600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr10:90842200-90846600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:90842400-90846600	Weak transcription	Left Ventricle	heart
18	chr10:90843000-90844400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr10:90843000-90844400	Enhancers	GM12878-XiMat	blood
20	chr10:90843000-90845600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr10:90843200-90845400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr10:90843400-90844200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr10:90843400-90845200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr10:90843600-90845400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr10:90843800-90844200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr10:90843800-90844200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr10:90843800-90844200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr10:90843800-90844200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:90843800-90844600	Enhancers	Primary B cells from peripheral blood	blood
30	chr10:90843800-90847400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr10:90844000-90844200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr10:90844000-90844400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr10:90844000-90844400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr10:90844000-90845000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr10:90844000-90845200	Enhancers	Primary hematopoietic stem cells	blood
36	chr10:90844000-90845200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr10:90844000-90845200	Weak transcription	Small Intestine	intestine
38	chr10:90844000-90845800	Enhancers	Dnd41	blood

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