Variant report

Variant	rs73350818
Chromosome Location	chr5:177845948-177845949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177844557..177846538-chr5:177860811..177863618,2	K562	blood:
2	chr5:177844389..177846173-chr5:177851202..177854065,2	MCF-7	breast:
3	chr5:177843982..177846399-chr5:177848195..177849989,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs60540959	0.82[AFR][1000 genomes]
rs73336637	1.00[AMR][1000 genomes]
rs73350809	0.85[AFR][1000 genomes]
rs73350820	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7714075	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
4	nsv1024689	chr5:177638936-177926244	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv537968	chr5:177638936-177926244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv427739	chr5:177766033-177966666	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv883210	chr5:177771925-177980792	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv883213	chr5:177811754-177947771	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177840000-177855000	Weak transcription	Right Atrium	heart
2	chr5:177841200-177846000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:177841200-177854400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:177842400-177848000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:177843800-177846000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:177843800-177846800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:177844000-177846600	Enhancers	Gastric	stomach
8	chr5:177844000-177849800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr5:177844400-177849000	Enhancers	Fetal Thymus	thymus
10	chr5:177844800-177846000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:177844800-177846000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:177844800-177846400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:177844800-177846800	Weak transcription	Fetal Kidney	kidney
14	chr5:177844800-177847000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:177844800-177848600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr5:177844800-177851200	Weak transcription	Fetal Lung	lung
17	chr5:177845000-177846000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:177845000-177846200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:177845200-177846200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:177845200-177847600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:177845400-177846800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:177845600-177846200	Genic enhancers	Thymus	Thymus
23	chr5:177845600-177849600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:177845800-177846400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:177845800-177846600	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr5:177845800-177849600	Enhancers	H1 Cell Line	embryonic stem cell

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