Variant report

Variant	rs16941912
Chromosome Location	chr17:45435575-45435576
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	chr17:45433817..45436270-chr17:45439623..45442042,2	K562	blood:
2	chr17:45417186..45419360-chr17:45433473..45435862,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10468569	1.00[EUR][1000 genomes]
rs10514930	1.00[ASW][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.92[YRI][hapmap]
rs16941807	1.00[EUR][1000 genomes]
rs55827775	1.00[EUR][1000 genomes]
rs59747203	1.00[EUR][1000 genomes]
rs72825640	0.83[AFR][1000 genomes]
rs72825642	0.83[AFR][1000 genomes]
rs72825648	0.82[AFR][1000 genomes]
rs73985161	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985162	1.00[EUR][1000 genomes]
rs73985163	1.00[EUR][1000 genomes]
rs8064853	1.00[EUR][1000 genomes]
rs8075031	1.00[EUR][1000 genomes]
rs9807023	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1062096	chr17:45416538-45518683	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv470590	chr17:45419138-45547077	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1818362	chr17:45419139-45499396	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv457821	chr17:45419139-45547078	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv575462	chr17:45419139-45547078	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv516872	chr17:45419139-45702280	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv908564	chr17:45422628-45522311	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1801088	chr17:45435575-45522311	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45402000-45442600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr17:45402200-45446400	Weak transcription	Colon Smooth Muscle	Colon
3	chr17:45402200-45500800	Weak transcription	Aorta	Aorta
4	chr17:45402400-45435800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr17:45402400-45436000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr17:45402800-45440800	Weak transcription	Primary T cells from cord blood	blood
7	chr17:45407600-45435800	Weak transcription	Fetal Intestine Large	intestine
8	chr17:45411600-45468200	Weak transcription	Left Ventricle	heart
9	chr17:45412400-45463400	Weak transcription	Gastric	stomach
10	chr17:45413400-45463800	Weak transcription	Ovary	ovary
11	chr17:45421800-45449800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr17:45423000-45450000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr17:45423000-45465400	Weak transcription	Adipose Nuclei	Adipose
14	chr17:45423200-45450000	Weak transcription	Primary B cells from cord blood	blood
15	chr17:45425000-45438600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr17:45432600-45439600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:45433200-45439800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:45434200-45436800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:45434400-45436200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr17:45434400-45438000	Weak transcription	Fetal Stomach	stomach
21	chr17:45434600-45439400	Weak transcription	Fetal Intestine Small	intestine
22	chr17:45435000-45463200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr17:45435200-45447600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr17:45435400-45449600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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