Variant report

Variant	rs16858998
Chromosome Location	chr1:161700088-161700089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161697451..161700405-chr1:161734526..161737492,2	K562	blood:

Variant related genes	Relation type
ENSG00000226889	Chromatin interaction
ENSG00000118217	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12021510	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12044611	0.82[EUR][1000 genomes]
rs12046383	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16859391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16859935	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4040184	1.00[AFR][1000 genomes]
rs60397531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61801182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61801184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61801185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61801186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61801187	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61801189	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61801191	0.94[ASN][1000 genomes]
rs72706008	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs905590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active 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	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv516773	chr1:161691433-161702763	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
6	nsv464195	chr1:161693003-161702792	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
7	nsv548076	chr1:161693003-161702792	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161697600-161700200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:161697600-161700200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:161697600-161700200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr1:161697600-161700800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:161697600-161700800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr1:161697600-161700800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:161697800-161700600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:161697800-161700600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:161697800-161700800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:161697800-161700800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:161697800-161700800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:161697800-161700800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:161697800-161706600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:161698000-161700400	Weak transcription	Primary B cells from cord blood	blood
15	chr1:161698000-161700600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:161698000-161702600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:161698000-161703400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:161698000-161703400	Enhancers	K562	blood
19	chr1:161698000-161706000	Enhancers	NHEK	skin
20	chr1:161698000-161707600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:161698200-161700400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:161698400-161700400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr1:161698400-161700600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:161698400-161704400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:161698600-161700200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:161698600-161700800	Enhancers	NHDF-Ad	bronchial
27	chr1:161698600-161705600	Weak transcription	A549	lung
28	chr1:161698800-161702600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:161699200-161704400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:161699200-161707400	Enhancers	HMEC	breast
31	chr1:161699400-161700800	Enhancers	HUVEC	blood vessel
32	chr1:161699600-161700600	Enhancers	HSMM	muscle
33	chr1:161699600-161700800	Enhancers	Hela-S3	cervix
34	chr1:161699800-161700800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:161700000-161700200	Enhancers	Primary B cells from peripheral blood	blood
36	chr1:161700000-161700200	Enhancers	NH-A	brain
37	chr1:161700000-161700400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
38	chr1:161700000-161700400	Flanking Active TSS	GM12878-XiMat	blood
39	chr1:161700000-161700600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:161700000-161700600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr1:161700000-161700600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:161700000-161700600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:161700000-161700600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
44	chr1:161700000-161700600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:161700000-161700600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:161700000-161700600	Enhancers	NHLF	lung
47	chr1:161700000-161700800	Enhancers	Osteobl	bone
48	chr1:161700000-161701400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:161700000-161701800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:161700000-161702200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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