Variant report

Variant	rs28501674
Chromosome Location	chr3:45946460-45946461
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	chr3:45945916..45947727-chr3:45972122..45974949,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1488371	0.83[ASN][1000 genomes]
rs1985356	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1985463	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs34549672	0.81[ASN][1000 genomes]
rs34847985	0.99[ASN][1000 genomes]
rs4683147	0.80[ASN][1000 genomes]
rs57295094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57527954	0.81[ASN][1000 genomes]
rs61565453	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62245098	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62245102	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6441933	0.81[ASN][1000 genomes]
rs6791859	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7614342	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs875890	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs875891	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9834860	0.81[ASN][1000 genomes]
rs9862611	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv834678	chr3:45804294-46010256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45923400-45948200	Weak transcription	Right Atrium	heart
2	chr3:45925200-45949600	Weak transcription	Pancreas	Pancrea
3	chr3:45925600-45947800	Genic enhancers	Dnd41	blood
4	chr3:45932400-45960200	Weak transcription	Fetal Intestine Small	intestine
5	chr3:45934000-45960200	Weak transcription	Right Ventricle	heart
6	chr3:45936000-45947600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:45936600-45950200	Genic enhancers	Fetal Thymus	thymus
8	chr3:45938600-45949000	Weak transcription	Small Intestine	intestine
9	chr3:45939200-45948200	Weak transcription	Fetal Stomach	stomach
10	chr3:45940000-45959800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr3:45941200-45952400	Weak transcription	Psoas Muscle	Psoas
12	chr3:45941400-45960000	Weak transcription	Adipose Nuclei	Adipose
13	chr3:45943000-45961000	Weak transcription	Brain Substantia Nigra	brain
14	chr3:45943200-45948200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:45943200-45950800	Genic enhancers	Thymus	Thymus
16	chr3:45943600-45961200	Weak transcription	Gastric	stomach
17	chr3:45945200-45946600	Bivalent Enhancer	GM12878-XiMat	blood
18	chr3:45945400-45947400	Weak transcription	Primary T cells from cord blood	blood
19	chr3:45945400-45948600	Enhancers	Primary B cells from peripheral blood	blood
20	chr3:45945600-45947400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr3:45945800-45948000	Enhancers	Primary B cells from cord blood	blood
22	chr3:45945800-45948400	Enhancers	Spleen	Spleen
23	chr3:45946000-45947400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:45946200-45956800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:45946200-45960400	Weak transcription	Aorta	Aorta
26	chr3:45946400-45946800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:45946400-45947800	Weak transcription	Duodenum Mucosa	Duodenum

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