Variant report

Variant	rs561475
Chromosome Location	chr13:48722619-48722620
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	chr13:48610445..48612287-chr13:48722206..48724817,2	K562	blood:

Variant related genes	Relation type
ENSG00000136143	Chromatin interaction
ENSG00000136159	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1172550	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1172551	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1172552	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1172553	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2256472	0.82[AMR][1000 genomes]
rs2768788	0.80[ASN][1000 genomes]
rs3092865	1.00[JPT][hapmap]
rs645833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[MKK][hapmap];0.94[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647203	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332287	1.00[JPT][hapmap]

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	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1047140	chr13:48703732-48765860	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv541767	chr13:48703732-48765860	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48701800-48725800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:48716600-48726000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:48717400-48733200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr13:48719000-48725400	Weak transcription	Primary T cells from cord blood	blood
5	chr13:48719000-48726200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr13:48719200-48722800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr13:48719200-48723200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr13:48719200-48723200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr13:48719200-48724600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr13:48719400-48724200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr13:48719400-48724800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr13:48719800-48724600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr13:48720000-48725200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr13:48720200-48722800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr13:48720600-48724200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr13:48721600-48727600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr13:48722200-48723600	Enhancers	Primary hematopoietic stem cells	blood
18	chr13:48722200-48724800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr13:48722200-48725400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr13:48722200-48727200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr13:48722400-48723200	Enhancers	Fetal Thymus	thymus
22	chr13:48722400-48723200	Enhancers	Thymus	Thymus
23	chr13:48722400-48723600	Enhancers	Dnd41	blood
24	chr13:48722400-48730600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr13:48722600-48722800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:48722600-48723000	Enhancers	Duodenum Mucosa	Duodenum
27	chr13:48722600-48723000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr13:48722600-48723200	Enhancers	Primary B cells from cord blood	blood
29	chr13:48722600-48725600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr13:48722600-48730000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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