Variant report

Variant	rs13322621
Chromosome Location	chr3:51443684-51443685
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:51425507..51429128-chr3:51443186..51445637,3	MCF-7	breast:
2	chr3:51442283..51443944-chr3:51444165..51446880,2	MCF-7	breast:
3	chr3:51440734..51444563-chr3:51445176..51449040,4	K562	blood:

Variant related genes	Relation type
ENSG00000179837	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13316894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13317936	1.00[AMR][1000 genomes]
rs13321111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13353505	1.00[AMR][1000 genomes]
rs28454463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28626048	1.00[AMR][1000 genomes]
rs28890042	1.00[AMR][1000 genomes]
rs6777506	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6779163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6806124	1.00[AMR][1000 genomes]
rs7635546	1.00[AMR][1000 genomes]
rs9812682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9826415	1.00[AMR][1000 genomes]
rs9828325	1.00[AMR][1000 genomes]
rs9829002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9841963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9846343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9853900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9855214	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9868612	1.00[AMR][1000 genomes]
rs9875513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9878053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005858	chr3:51090373-51444027	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv536569	chr3:51090373-51444027	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv460536	chr3:51395571-51469107	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv590276	chr3:51395571-51469107	Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv590277	chr3:51408051-51474418	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51430200-51457000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:51431400-51471200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:51431600-51446000	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:51432000-51455400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr3:51432200-51445000	Strong transcription	Fetal Intestine Large	intestine
6	chr3:51432200-51450000	Weak transcription	Small Intestine	intestine
7	chr3:51432400-51460000	Strong transcription	Liver	Liver
8	chr3:51432600-51444200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr3:51432800-51453000	Weak transcription	Psoas Muscle	Psoas
10	chr3:51433400-51477400	Weak transcription	Fetal Heart	heart
11	chr3:51434000-51446600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:51434000-51475600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr3:51434200-51456000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:51434200-51460200	Strong transcription	Dnd41	blood
15	chr3:51434200-51477600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:51434400-51457200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:51434600-51450000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:51434600-51471000	Weak transcription	Stomach Mucosa	stomach
19	chr3:51434800-51446200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr3:51434800-51447200	Weak transcription	NH-A	brain
21	chr3:51434800-51449200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:51435200-51478000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:51435400-51444400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:51435600-51460200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:51436200-51446600	Weak transcription	HSMM	muscle
26	chr3:51436400-51447800	Weak transcription	HMEC	breast
27	chr3:51436600-51451400	Weak transcription	Fetal Brain Male	brain
28	chr3:51436600-51461000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:51436800-51449800	Weak transcription	Right Ventricle	heart
30	chr3:51436800-51461000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:51437800-51460000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr3:51438000-51446800	Weak transcription	Gastric	stomach
33	chr3:51438200-51446800	Weak transcription	Pancreas	Pancrea
34	chr3:51438800-51446400	Weak transcription	Brain Angular Gyrus	brain
35	chr3:51439800-51478000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:51440000-51460200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr3:51440200-51445000	Strong transcription	Thymus	Thymus
38	chr3:51440400-51445800	Strong transcription	Primary hematopoietic stem cells	blood
39	chr3:51440800-51445400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:51440800-51446200	Weak transcription	Fetal Brain Female	brain
41	chr3:51440800-51446400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:51440800-51446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:51440800-51446800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr3:51440800-51478200	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr3:51441000-51444000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr3:51441000-51444000	Weak transcription	Placenta	Placenta
47	chr3:51441000-51446200	Weak transcription	Spleen	Spleen
48	chr3:51441000-51446600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:51441000-51446800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr3:51441000-51446800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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