Variant report

Variant	rs13316894
Chromosome Location	chr3:51453575-51453576
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:51431727..51434714-chr3:51452155..51454713,2	K562	blood:
2	chr3:51425475..51427809-chr3:51452594..51455305,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
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]
rs13325153	1.00[MEX][hapmap]
rs13327225	1.00[AMR][1000 genomes]
rs13353505	1.00[AMR][1000 genomes]
rs17051799	1.00[MEX][hapmap]
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[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6782997	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs6806124	1.00[AMR][1000 genomes]
rs7627636	1.00[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap]
rs7635546	1.00[AMR][1000 genomes]
rs9812682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9826415	1.00[AMR][1000 genomes]
rs9826735	0.82[YRI][hapmap]
rs9828325	1.00[MEX][hapmap];0.85[YRI][hapmap];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	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];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[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9880909	1.00[MEX][hapmap]

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	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	esv3369762	chr3:51449727-51469314	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3444499	chr3:51449727-51469614	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	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	chr3:51432400-51460000	Strong transcription	Liver	Liver
5	chr3:51433400-51477400	Weak transcription	Fetal Heart	heart
6	chr3:51434000-51475600	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr3:51434200-51456000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:51434200-51460200	Strong transcription	Dnd41	blood
9	chr3:51434200-51477600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:51434400-51457200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:51434600-51471000	Weak transcription	Stomach Mucosa	stomach
12	chr3:51435200-51478000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:51435600-51460200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:51436600-51461000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:51436800-51461000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:51437800-51460000	Strong transcription	Duodenum Mucosa	Duodenum
17	chr3:51439800-51478000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:51440000-51460200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr3:51440800-51478200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr3:51441000-51460200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:51441600-51461400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:51444000-51460600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr3:51444000-51461200	Strong transcription	Placenta	Placenta
24	chr3:51444800-51460000	Strong transcription	Primary T cells from cord blood	blood
25	chr3:51444800-51477800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:51445400-51460400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:51445400-51478400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr3:51445600-51455400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr3:51445600-51460200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:51445600-51460400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr3:51445800-51456000	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:51445800-51460000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:51445800-51460000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr3:51445800-51460200	Strong transcription	Adipose Nuclei	Adipose
35	chr3:51446000-51458800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr3:51446000-51459400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr3:51446000-51460600	Strong transcription	Fetal Thymus	thymus
38	chr3:51446000-51460800	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr3:51446200-51458400	Strong transcription	Primary hematopoietic stem cells	blood
40	chr3:51446200-51458400	Strong transcription	Lung	lung
41	chr3:51446200-51458600	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr3:51446200-51460200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:51446200-51460400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:51446200-51460400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr3:51446200-51460600	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr3:51446200-51471000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:51446400-51458400	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr3:51446400-51458600	Strong transcription	Fetal Muscle Leg	muscle
49	chr3:51446400-51459200	Strong transcription	Left Ventricle	heart
50	chr3:51446400-51460000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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