Variant report

Variant	rs10511168
Chromosome Location	chr3:98291866-98291867
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:98287743..98290049-chr3:98291155..98295348,3	K562	blood:
2	chr3:98289153..98292045-chr3:98293949..98295528,2	K562	blood:
3	chr20:46129382..46132079-chr3:98291150..98293500,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124151	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12496562	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12633305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16839969	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16839971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17268301	0.95[EUR][1000 genomes]
rs2141494	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4857098	0.95[EUR][1000 genomes]
rs55995650	0.93[EUR][1000 genomes]
rs57165111	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6439944	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6439950	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528056	chr3:98101101-98317836	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv520503	chr3:98102801-98317836	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv834775	chr3:98170059-98367552	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv997484	chr3:98284283-98371420	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1000357	chr3:98284283-98381473	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv536661	chr3:98286588-98315764	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98273600-98292600	Weak transcription	K562	blood
2	chr3:98281200-98296200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:98281400-98295800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:98283000-98292200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:98283000-98295200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:98283600-98295800	Weak transcription	Primary B cells from cord blood	blood
7	chr3:98283800-98298400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr3:98284600-98292200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:98284600-98292200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:98284600-98295800	Weak transcription	Thymus	Thymus
11	chr3:98285000-98295800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr3:98285000-98296200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr3:98285000-98296200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:98285000-98296200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:98285000-98303400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:98285200-98295200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:98285200-98295800	Weak transcription	Fetal Thymus	thymus
18	chr3:98285800-98295200	Weak transcription	Primary T cells from cord blood	blood
19	chr3:98285800-98295200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:98285800-98295600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:98285800-98295800	Weak transcription	Dnd41	blood
22	chr3:98286800-98304200	Weak transcription	Pancreas	Pancrea
23	chr3:98287000-98295400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr3:98287000-98296000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr3:98287000-98296000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr3:98287000-98296000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:98287200-98310200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr3:98287400-98310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr3:98288000-98292000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr3:98288200-98303400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr3:98290000-98296000	Weak transcription	Spleen	Spleen
32	chr3:98290400-98307600	Weak transcription	Psoas Muscle	Psoas
33	chr3:98291000-98292400	Flanking Active TSS	GM12878-XiMat	blood
34	chr3:98291400-98292000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr3:98291400-98292400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr3:98291400-98292400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:98291400-98292600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr3:98291400-98293200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:98291600-98293000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr3:98291800-98292400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr3:98291800-98293200	Enhancers	Brain Cingulate Gyrus	brain

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