Variant report

Variant	rs9917799
Chromosome Location	chr3:48234184-48234185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48229925..48231959-chr3:48234100..48237054,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10780032	1.00[EUR][1000 genomes]
rs11130169	1.00[EUR][1000 genomes]
rs3731495	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731532	0.83[AFR][1000 genomes]
rs3731539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4476528	1.00[AMR][1000 genomes]
rs4858818	1.00[EUR][1000 genomes]
rs55808934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442103	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6442104	1.00[AMR][1000 genomes]
rs6442122	1.00[EUR][1000 genomes]
rs6773945	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6793732	1.00[EUR][1000 genomes]
rs6801348	1.00[EUR][1000 genomes]
rs7372108	1.00[AMR][1000 genomes]
rs73831540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831572	1.00[EUR][1000 genomes]
rs7633433	1.00[EUR][1000 genomes]
rs9852211	1.00[EUR][1000 genomes]
rs9863220	1.00[AMR][1000 genomes];1.00[EUR][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	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1004557	chr3:48056534-48256694	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1012024	chr3:48119229-48242670	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv834682	chr3:48138137-48311122	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48230600-48235600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:48230600-48235600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:48230600-48235800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:48230600-48236000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr3:48230600-48236000	Weak transcription	Primary B cells from cord blood	blood
6	chr3:48230600-48236000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:48230600-48236000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:48230600-48236000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr3:48230600-48237800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:48230600-48238400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:48230600-48238400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:48230800-48235400	Weak transcription	Hela-S3	cervix
13	chr3:48230800-48235800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:48230800-48235800	Weak transcription	GM12878-XiMat	blood
15	chr3:48231000-48235800	Weak transcription	Dnd41	blood
16	chr3:48232400-48235600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:48232600-48235800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:48232600-48236200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr3:48232600-48241800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr3:48232800-48235600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:48232800-48235800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:48232800-48235800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:48232800-48235800	Weak transcription	K562	blood
24	chr3:48232800-48237800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:48232800-48238000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr3:48232800-48238000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:48232800-48244200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:48233000-48235800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:48233000-48235800	Weak transcription	Stomach Mucosa	stomach
30	chr3:48233000-48236000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr3:48233000-48236200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr3:48233000-48236200	Weak transcription	HepG2	liver
33	chr3:48233000-48238000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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