Variant report

Variant	rs2768788
Chromosome Location	chr13:48719366-48719367
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	chr13:48705406..48707742-chr13:48718152..48719712,2	K562	blood:
2	chr13:48719328..48721688-chr13:48725913..48727426,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1172550	0.80[ASN][1000 genomes]
rs1172551	0.80[ASN][1000 genomes]
rs1172552	0.80[ASN][1000 genomes]
rs1172553	0.80[ASN][1000 genomes]
rs561475	0.80[ASN][1000 genomes]
rs645833	0.80[ASN][1000 genomes]
rs647203	0.80[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	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	chr13:48715600-48720600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr13:48716200-48720000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr13:48716600-48726000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:48717200-48722400	Weak transcription	Thymus	Thymus
6	chr13:48717400-48733200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:48717800-48719400	Enhancers	Primary B cells from peripheral blood	blood
8	chr13:48718000-48719400	Enhancers	Primary hematopoietic stem cells	blood
9	chr13:48718000-48719400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr13:48718200-48719400	Enhancers	Primary B cells from cord blood	blood
11	chr13:48718200-48719400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr13:48718200-48719600	Enhancers	HUVEC	blood vessel
13	chr13:48718400-48719400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr13:48718600-48719400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr13:48718800-48719400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr13:48718800-48719400	Enhancers	Lung	lung
17	chr13:48718800-48720200	Enhancers	Placenta	Placenta
18	chr13:48719000-48719400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr13:48719000-48725400	Weak transcription	Primary T cells from cord blood	blood
20	chr13:48719000-48726200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr13:48719200-48719800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr13:48719200-48719800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr13:48719200-48722200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr13:48719200-48722400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr13:48719200-48722600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr13:48719200-48722600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr13:48719200-48722800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr13:48719200-48723200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr13:48719200-48723200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr13:48719200-48724600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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