Variant report

Variant	rs9853900
Chromosome Location	chr3:51448512-51448513
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:51446382..51449018-chr3:51464481..51466257,2	K562	blood:
2	chr3:51431570..51433213-chr3:51447794..51449393,2	K562	blood:
3	chr3:51440734..51444563-chr3:51445176..51449040,4	K562	blood:
4	chr3:51430737..51433070-chr3:51447893..51450283,2	K562	blood:
5	chr3:51432446..51436234-chr3:51447600..51449947,3	MCF-7	breast:

Extended variants
information (count: 27 )
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]
rs13322621	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]
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:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	esv3381593	chr3:51448392-51449830	Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:126 , 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	chr3:51432000-51455400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:51432200-51450000	Weak transcription	Small Intestine	intestine
5	chr3:51432400-51460000	Strong transcription	Liver	Liver
6	chr3:51432800-51453000	Weak transcription	Psoas Muscle	Psoas
7	chr3:51433400-51477400	Weak transcription	Fetal Heart	heart
8	chr3:51434000-51475600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr3:51434200-51456000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:51434200-51460200	Strong transcription	Dnd41	blood
11	chr3:51434200-51477600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:51434400-51457200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:51434600-51450000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:51434600-51471000	Weak transcription	Stomach Mucosa	stomach
15	chr3:51434800-51449200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:51435200-51478000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:51435600-51460200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:51436600-51451400	Weak transcription	Fetal Brain Male	brain
19	chr3:51436600-51461000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:51436800-51449800	Weak transcription	Right Ventricle	heart
21	chr3:51436800-51461000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:51437800-51460000	Strong transcription	Duodenum Mucosa	Duodenum
23	chr3:51439800-51478000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:51440000-51460200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr3:51440800-51478200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr3:51441000-51449400	Weak transcription	Brain Substantia Nigra	brain
27	chr3:51441000-51449800	Weak transcription	A549	lung
28	chr3:51441000-51452200	Weak transcription	Aorta	Aorta
29	chr3:51441000-51453400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:51441000-51460200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr3:51441200-51449200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr3:51441200-51449600	Weak transcription	HUVEC	blood vessel
33	chr3:51441200-51451400	Weak transcription	Fetal Kidney	kidney
34	chr3:51441200-51452000	Weak transcription	NHLF	lung
35	chr3:51441600-51449000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:51441600-51461400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr3:51441800-51449600	Weak transcription	K562	blood
38	chr3:51441800-51450200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:51442200-51450400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr3:51443200-51449800	Weak transcription	Colonic Mucosa	Colon
41	chr3:51444000-51460600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr3:51444000-51461200	Strong transcription	Placenta	Placenta
43	chr3:51444400-51449200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr3:51444800-51449200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:51444800-51460000	Strong transcription	Primary T cells from cord blood	blood
46	chr3:51444800-51477800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:51445400-51450000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:51445400-51450000	Strong transcription	HepG2	liver
49	chr3:51445400-51460400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:51445400-51478400	Strong transcription	Primary B cells from peripheral blood	blood

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