Variant report

Variant	rs59248577
Chromosome Location	chr3:98223717-98223718
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:98223162..98227704-chr3:98229534..98233536,4	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1471299	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16839839	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16839882	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16846235	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1961152	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56787128	1.00[EUR][1000 genomes]
rs57985907	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58755405	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58756404	1.00[EUR][1000 genomes]
rs60788607	1.00[EUR][1000 genomes]
rs61642998	1.00[EUR][1000 genomes]
rs7626745	1.00[AFR][1000 genomes];1.00[EUR][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	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	nsv834774	chr3:98108423-98274064	Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98206800-98240800	Weak transcription	Pancreas	Pancrea
2	chr3:98214000-98225000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:98216800-98235400	Weak transcription	Left Ventricle	heart
4	chr3:98217600-98225400	Weak transcription	Aorta	Aorta
5	chr3:98217600-98229000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr3:98219200-98233200	Weak transcription	Psoas Muscle	Psoas
7	chr3:98220200-98226600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:98220400-98225200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:98220400-98229000	Weak transcription	Primary T cells from cord blood	blood
10	chr3:98220400-98230800	Weak transcription	Adipose Nuclei	Adipose
11	chr3:98220400-98235400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr3:98220400-98235400	Weak transcription	Gastric	stomach
13	chr3:98220400-98235400	Weak transcription	Spleen	Spleen
14	chr3:98220600-98229800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:98220600-98230600	Weak transcription	Brain Hippocampus Middle	brain
16	chr3:98220800-98228600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr3:98220800-98233400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr3:98221000-98238200	Weak transcription	Small Intestine	intestine
19	chr3:98222200-98229000	Weak transcription	Primary B cells from cord blood	blood
20	chr3:98222600-98233000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:98223000-98227000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr3:98223200-98225400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:98223400-98223800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:98223400-98223800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:98223400-98223800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:98223600-98223800	Enhancers	Fetal Intestine Small	intestine
27	chr3:98223600-98223800	Enhancers	HSMM	muscle
28	chr3:98223600-98233600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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