Variant report

Variant	rs17116455
Chromosome Location	chr5:154197538-154197539
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:154196799..154198598-chr5:154236458..154239048,2	K562	blood:
2	chr5:154168441..154171085-chr5:154196369..154197910,2	MCF-7	breast:
3	chr5:154188897..154190397-chr5:154195933..154198821,2	K562	blood:
4	chr5:154192681..154195984-chr5:154196511..154199609,4	K562	blood:
5	chr5:154133909..154135930-chr5:154197184..154199764,3	MCF-7	breast:
6	chr5:154193302..154196557-chr5:154196665..154201027,5	MCF-7	breast:
7	chr5:154196264..154198652-chr5:154201604..154204307,2	MCF-7	breast:
8	chr5:154192019..154194234-chr5:154197366..154200161,2	MCF-7	breast:
9	chr5:154196417..154197965-chr5:154213395..154216001,2	MCF-7	breast:
10	chr5:154197105..154198650-chr5:154235926..154238059,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000170271	Chromatin interaction
ENSG00000155508	Chromatin interaction
ENSG00000155506	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10515727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12186480	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12186610	0.88[EUR][1000 genomes]
rs12187572	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12187890	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12187921	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12187934	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12187974	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12188149	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12188498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189508	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1421813	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1421814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1421815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1421819	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17096232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17116409	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17116417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17116433	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17116489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17116534	1.00[CHB][hapmap]
rs17116638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17116669	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17116707	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2047305	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2112223	1.00[CHB][hapmap]
rs2291780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2544859	0.82[CHB][hapmap]
rs2644744	1.00[CHB][hapmap]
rs2688198	1.00[CHB][hapmap]
rs2688208	1.00[CHB][hapmap]
rs28372688	0.86[ASN][1000 genomes]
rs3776984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4452598	0.89[EUR][1000 genomes]
rs4626377	0.89[EUR][1000 genomes]
rs55692274	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56773390	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56895891	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61145644	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6580123	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6865950	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6871813	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6895588	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6895702	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6895741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73806917	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73807206	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73807207	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73807213	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73807216	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73809507	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7709899	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7716019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816718	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830521	chr5:154147567-154244266	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154167000-154203000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:154169200-154204200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:154169200-154204200	Strong transcription	Dnd41	blood
4	chr5:154169400-154198200	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr5:154169400-154198400	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:154169400-154198800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:154169400-154199000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr5:154169400-154199400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr5:154169400-154200000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:154169400-154200800	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr5:154169400-154201400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:154169400-154204000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:154169400-154204200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:154169400-154204200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr5:154169400-154205800	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:154169600-154199400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:154169600-154200000	Strong transcription	Fetal Muscle Leg	muscle
18	chr5:154169600-154202400	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr5:154169600-154204200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr5:154169800-154198200	Strong transcription	Fetal Brain Female	brain
21	chr5:154169800-154198600	Strong transcription	HMEC	breast
22	chr5:154170800-154201200	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr5:154171000-154201000	Strong transcription	HSMM	muscle
24	chr5:154174000-154212200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:154174800-154204400	Strong transcription	Placenta	Placenta
26	chr5:154175200-154204400	Strong transcription	Osteobl	bone
27	chr5:154175200-154204600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:154177200-154197800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:154177200-154202200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:154177800-154198400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:154178000-154199200	Strong transcription	HSMMtube	muscle
32	chr5:154178200-154204000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:154179000-154197800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr5:154181000-154201000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:154181000-154211600	Strong transcription	Brain Hippocampus Middle	brain
36	chr5:154181200-154204800	Strong transcription	Brain Cingulate Gyrus	brain
37	chr5:154181400-154199800	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr5:154181800-154198200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:154182000-154211400	Strong transcription	Left Ventricle	heart
40	chr5:154182200-154198400	Weak transcription	Right Atrium	heart
41	chr5:154187000-154197800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr5:154187000-154211400	Strong transcription	Fetal Stomach	stomach
43	chr5:154187600-154204200	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr5:154187600-154204400	Strong transcription	Brain Germinal Matrix	brain
45	chr5:154188600-154202400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:154189400-154206000	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr5:154189600-154200200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:154189800-154204600	Strong transcription	Lung	lung
49	chr5:154190000-154201200	Strong transcription	NHEK	skin
50	chr5:154190200-154197800	Strong transcription	NHDF-Ad	bronchial

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