Variant report

Variant	rs341277
Chromosome Location	chr5:106869642-106869643
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	chr5:106867883..106870050-chr5:106871887..106873838,2	K562	blood:
2	chr5:106867857..106870035-chr5:106875652..106879640,3	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs149155	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs163614	0.90[CEU][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs163889	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs163890	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs163891	0.90[CEU][hapmap];0.86[AMR][1000 genomes]
rs163893	0.90[CEU][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes]
rs341276	1.00[CEU][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs341278	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs458393	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs462885	0.89[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes]
rs464250	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs698372	0.83[AMR][1000 genomes]
rs848829	1.00[CEU][hapmap];0.94[TSI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106842400-106880000	Weak transcription	Gastric	stomach
2	chr5:106859600-106873600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:106860600-106874600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:106862400-106873800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:106865400-106880000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:106865600-106874200	Weak transcription	Aorta	Aorta
7	chr5:106865800-106874800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:106866200-106874400	Weak transcription	Left Ventricle	heart
9	chr5:106866800-106871600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:106867000-106870400	Enhancers	Fetal Kidney	kidney
11	chr5:106867000-106875600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:106867200-106869800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:106867200-106871600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:106867200-106879800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:106867400-106871400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:106867400-106874600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:106867800-106872200	Enhancers	Fetal Heart	heart
18	chr5:106868000-106870600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:106868200-106874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:106868400-106871400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:106868400-106871600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:106868400-106874400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:106868600-106871400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:106868600-106874200	Weak transcription	HSMM	muscle
25	chr5:106868800-106874000	Weak transcription	HSMMtube	muscle
26	chr5:106868800-106874200	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:106868800-106877400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:106868800-106878000	Weak transcription	Right Atrium	heart
29	chr5:106869000-106870800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:106869000-106874400	Weak transcription	Right Ventricle	heart
31	chr5:106869000-106874800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:106869200-106871600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:106869600-106870000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr5:106869600-106870400	Enhancers	Fetal Lung	lung
35	chr5:106869600-106870800	Enhancers	A549	lung
36	chr5:106869600-106871000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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