Variant report

Variant	rs1675511
Chromosome Location	chr3:98292683-98292684
allele	C/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	chr3:98292600..98294311-chr3:98296464..98299165,2	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: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1461161	0.93[EUR][1000 genomes]
rs1569234	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1675510	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1729963	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1729982	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1729983	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4857402	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60071844	0.93[AFR][1000 genomes];0.99[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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98281200-98296200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:98281400-98295800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:98283000-98295200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:98283600-98295800	Weak transcription	Primary B cells from cord blood	blood
5	chr3:98283800-98298400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr3:98284600-98295800	Weak transcription	Thymus	Thymus
7	chr3:98285000-98295800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:98285000-98296200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr3:98285000-98296200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:98285000-98296200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:98285000-98303400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:98285200-98295200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:98285200-98295800	Weak transcription	Fetal Thymus	thymus
14	chr3:98285800-98295200	Weak transcription	Primary T cells from cord blood	blood
15	chr3:98285800-98295200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr3:98285800-98295600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:98285800-98295800	Weak transcription	Dnd41	blood
18	chr3:98286800-98304200	Weak transcription	Pancreas	Pancrea
19	chr3:98287000-98295400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr3:98287000-98296000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr3:98287000-98296000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr3:98287000-98296000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:98287200-98310200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:98287400-98310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr3:98288200-98303400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr3:98290000-98296000	Weak transcription	Spleen	Spleen
27	chr3:98290400-98307600	Weak transcription	Psoas Muscle	Psoas
28	chr3:98291400-98293200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr3:98291600-98293000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:98291800-98293200	Enhancers	Brain Cingulate Gyrus	brain
31	chr3:98292000-98292800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:98292000-98293200	Enhancers	Brain Hippocampus Middle	brain
33	chr3:98292000-98293400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr3:98292200-98292800	Enhancers	HUVEC	blood vessel
35	chr3:98292200-98295200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:98292200-98295200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr3:98292200-98296000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:98292400-98293800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:98292400-98293800	Enhancers	HepG2	liver
40	chr3:98292400-98295200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:98292400-98295200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:98292400-98295400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr3:98292400-98295400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr3:98292400-98295600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:98292400-98295600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr3:98292400-98295600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:98292400-98295800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:98292400-98296000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr3:98292400-98296000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:98292400-98296200	Weak transcription	H9 Cell Line	embryonic stem cell

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