Variant report

Variant	rs17573867
Chromosome Location	chr1:196622041-196622042
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	chr1:196621426..196625290-chr1:196639780..196642382,3	K562	blood:
2	chr1:196461764..196464743-chr1:196621639..196623886,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12128003	1.00[EUR][1000 genomes]
rs12130004	1.00[EUR][1000 genomes]
rs12133309	1.00[EUR][1000 genomes]
rs16840379	1.00[EUR][1000 genomes]
rs34683486	1.00[EUR][1000 genomes]
rs35229136	1.00[EUR][1000 genomes]
rs35836460	1.00[EUR][1000 genomes]
rs4507960	1.00[EUR][1000 genomes]
rs487114	1.00[EUR][1000 genomes]
rs499807	1.00[EUR][1000 genomes]
rs512900	1.00[EUR][1000 genomes]
rs6428351	1.00[EUR][1000 genomes]
rs6691524	0.83[EUR][1000 genomes]
rs7523548	1.00[EUR][1000 genomes]
rs7551203	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
3	esv2757766	chr1:196590837-196961802	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv428290	chr1:196590837-196961802	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv428565	chr1:196604434-196772489	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv872958	chr1:196615838-196645117	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv872959	chr1:196619720-196660261	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv872960	chr1:196621221-196641257	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196619800-196623800	Active TSS	K562	blood
2	chr1:196619800-196625000	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr1:196620000-196623400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:196620400-196623800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr1:196620400-196623800	Active TSS	NHDF-Ad	bronchial
6	chr1:196620400-196626000	Active TSS	Liver	Liver
7	chr1:196620600-196622200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:196620600-196622600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:196620600-196623000	Active TSS	Fetal Lung	lung
10	chr1:196620600-196623600	Active TSS	Fetal Muscle Leg	muscle
11	chr1:196620600-196623800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:196620600-196623800	Active TSS	NHLF	lung
13	chr1:196620600-196624600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:196620800-196622200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr1:196620800-196622200	Active TSS	Fetal Intestine Large	intestine
16	chr1:196620800-196623200	Active TSS	Stomach Smooth Muscle	stomach
17	chr1:196620800-196623400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:196620800-196623600	Active TSS	HSMM	muscle
19	chr1:196620800-196625000	Active TSS	Adipose Nuclei	Adipose
20	chr1:196621000-196622200	Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr1:196621000-196622400	Active TSS	NH-A	brain
22	chr1:196621000-196622800	Active TSS	Dnd41	blood
23	chr1:196621000-196623400	Active TSS	Muscle Satellite Cultured Cells	--
24	chr1:196621000-196623600	Active TSS	Osteobl	bone
25	chr1:196621000-196625000	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr1:196621200-196622800	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:196621400-196622200	Weak transcription	HSMMtube	muscle
28	chr1:196621400-196622600	Active TSS	Primary hematopoietic stem cells	blood
29	chr1:196621400-196622600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:196621400-196622800	Weak transcription	Ovary	ovary
31	chr1:196621400-196622800	Weak transcription	Right Atrium	heart
32	chr1:196621400-196623000	Weak transcription	Psoas Muscle	Psoas
33	chr1:196621400-196623000	Active TSS	HUVEC	blood vessel
34	chr1:196621400-196623800	Active TSS	A549	lung
35	chr1:196621400-196623800	Weak transcription	Hela-S3	cervix
36	chr1:196621400-196624400	Weak transcription	Fetal Stomach	stomach
37	chr1:196621400-196630000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:196621800-196624000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:196622000-196622200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:196622000-196623800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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