Variant report

Variant	rs508505
Chromosome Location	chr1:196625745-196625746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:196625626..196628113-chr1:196631546..196633996,2	K562	blood:
2	chr1:196618602..196620905-chr1:196624002..196626095,2	K562	blood:
3	chr1:196460578..196463457-chr1:196623821..196625858,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs36049386	1.00[AMR][1000 genomes]
rs481538	0.81[AFR][1000 genomes]
rs487114	0.81[YRI][hapmap]
rs520992	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137304	1.00[AMR][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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196620400-196626000	Active TSS	Liver	Liver
2	chr1:196621400-196630000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:196622800-196626200	Active TSS	Right Atrium	heart
4	chr1:196622800-196626400	Active TSS	Ovary	ovary
5	chr1:196623600-196642200	Weak transcription	HSMM	muscle
6	chr1:196623800-196632800	Weak transcription	K562	blood
7	chr1:196624600-196628600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:196624600-196629000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:196624600-196629400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:196624600-196629400	Weak transcription	Osteobl	bone
11	chr1:196624600-196630600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:196624800-196627600	Weak transcription	Psoas Muscle	Psoas
13	chr1:196624800-196628200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:196624800-196628200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:196624800-196629400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:196624800-196629600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:196625000-196626000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:196625000-196626800	Enhancers	Dnd41	blood
19	chr1:196625000-196628400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:196625000-196628400	Weak transcription	Hela-S3	cervix
21	chr1:196625000-196628600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:196625000-196630000	Weak transcription	Adipose Nuclei	Adipose
23	chr1:196625000-196634800	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:196625400-196634800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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