Variant report

Variant	rs73339755
Chromosome Location	chr5:177043934-177043935
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177036778..177039311-chr5:177043869..177047459,3	MCF-7	breast:
2	chr5:177038565..177041096-chr5:177043118..177044821,2	MCF-7	breast:
3	chr5:177033386..177036225-chr5:177041437..177044197,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247679	Chromatin interaction
ENSG00000027847	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs28499092	0.84[EUR][1000 genomes]
rs28595585	0.97[EUR][1000 genomes]
rs55646352	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55869062	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55975666	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56190755	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56664111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57593509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57960711	0.94[EUR][1000 genomes]
rs59621415	0.94[EUR][1000 genomes]
rs59666704	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60634107	0.94[EUR][1000 genomes]
rs61334447	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337744	0.94[EUR][1000 genomes]
rs73337753	0.94[EUR][1000 genomes]
rs73337757	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73337765	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337783	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337790	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73339759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs901380	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
3	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177028400-177044800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:177028400-177045800	Weak transcription	Left Ventricle	heart
3	chr5:177028400-177045800	Weak transcription	Psoas Muscle	Psoas
4	chr5:177028400-177048400	Weak transcription	NH-A	brain
5	chr5:177028600-177046400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr5:177028600-177049000	Weak transcription	HUVEC	blood vessel
7	chr5:177028600-177053200	Weak transcription	HSMM	muscle
8	chr5:177028800-177044600	Weak transcription	GM12878-XiMat	blood
9	chr5:177029000-177054200	Weak transcription	Brain Substantia Nigra	brain
10	chr5:177029200-177045600	Weak transcription	Brain Angular Gyrus	brain
11	chr5:177032800-177045600	Weak transcription	HSMMtube	muscle
12	chr5:177033000-177045600	Weak transcription	Aorta	Aorta
13	chr5:177034400-177045600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:177034400-177046200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:177034400-177048600	Weak transcription	A549	lung
16	chr5:177034600-177044400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:177034800-177044600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr5:177034800-177044600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr5:177034800-177045000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr5:177034800-177052200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:177035000-177044600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:177035000-177044600	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:177035000-177044600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:177035000-177044600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr5:177035000-177045400	Weak transcription	Pancreas	Pancrea
26	chr5:177035000-177045400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr5:177035000-177045600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:177035000-177046600	Weak transcription	Fetal Brain Male	brain
29	chr5:177035000-177051000	Weak transcription	Stomach Mucosa	stomach
30	chr5:177035000-177054200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:177035200-177044400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:177035200-177044800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:177035200-177044800	Weak transcription	Fetal Kidney	kidney
34	chr5:177035200-177045600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr5:177035200-177053000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:177035400-177044600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:177035400-177044600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:177035400-177045400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr5:177035800-177045600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:177035800-177045600	Weak transcription	NHEK	skin
41	chr5:177036600-177044400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:177036600-177045800	Weak transcription	Osteobl	bone
43	chr5:177036600-177048000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr5:177036800-177044600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:177036800-177044800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr5:177036800-177045200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr5:177037000-177044600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:177037000-177044800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr5:177037000-177044800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:177037000-177045200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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