Variant report

Variant	rs17087272
Chromosome Location	chr5:96378942-96378943
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	chr5:96269785..96271786-chr5:96378098..96379767,2	MCF-7	breast:
2	chr5:96272346..96274929-chr5:96377055..96379060,2	K562	blood:

Variant related genes	Relation type
ENSG00000113441	Chromatin interaction
ENSG00000247121	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10491387	1.00[ASW][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10515251	1.00[JPT][hapmap]
rs10515252	1.00[JPT][hapmap]
rs11953645	0.83[AFR][1000 genomes]
rs17082244	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17087092	1.00[JPT][hapmap]
rs17087112	1.00[JPT][hapmap]
rs17087114	1.00[JPT][hapmap]
rs17087268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17087269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17087279	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17087310	1.00[ASN][1000 genomes]
rs17592545	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2112177	1.00[ASN][1000 genomes]
rs2161109	1.00[ASN][1000 genomes]
rs4577715	1.00[JPT][hapmap]
rs6861666	1.00[JPT][hapmap]
rs6873990	1.00[JPT][hapmap]
rs73141176	1.00[ASN][1000 genomes]
rs73141190	1.00[ASN][1000 genomes]
rs769337	1.00[ASN][1000 genomes]
rs7729859	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7736145	1.00[JPT][hapmap]

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	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96351400-96379000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:96360800-96379400	Weak transcription	Psoas Muscle	Psoas
3	chr5:96364600-96383400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:96364800-96379400	Weak transcription	HUVEC	blood vessel
5	chr5:96364800-96379800	Weak transcription	Lung	lung
6	chr5:96364800-96380000	Weak transcription	Right Ventricle	heart
7	chr5:96364800-96382000	Weak transcription	NH-A	brain
8	chr5:96364800-96383000	Weak transcription	HMEC	breast
9	chr5:96365800-96382000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:96367600-96379200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:96369800-96381800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:96370800-96380000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:96372400-96379400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr5:96372800-96381400	Weak transcription	Placenta	Placenta
15	chr5:96372800-96382600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:96373000-96379600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:96373200-96382000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:96373600-96384600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr5:96374000-96382000	Weak transcription	Dnd41	blood
20	chr5:96374400-96379200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:96374600-96384600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr5:96375000-96379000	Weak transcription	HepG2	liver
23	chr5:96375000-96382000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:96377600-96380200	Enhancers	Fetal Muscle Leg	muscle
25	chr5:96378000-96379200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:96378000-96379600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:96378000-96379600	Enhancers	Pancreas	Pancrea
28	chr5:96378000-96380600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:96378200-96379200	Weak transcription	Fetal Kidney	kidney
30	chr5:96378400-96380200	Enhancers	Fetal Intestine Large	intestine
31	chr5:96378600-96379000	Enhancers	Fetal Muscle Trunk	muscle
32	chr5:96378600-96379000	Enhancers	Gastric	stomach
33	chr5:96378600-96379000	Enhancers	Right Atrium	heart
34	chr5:96378600-96379600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:96378600-96379600	Enhancers	Fetal Intestine Small	intestine
36	chr5:96378600-96380200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:96378600-96380400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:96378800-96379200	Weak transcription	Left Ventricle	heart
39	chr5:96378800-96379400	Enhancers	Fetal Heart	heart
40	chr5:96378800-96379600	Enhancers	Duodenum Mucosa	Duodenum
41	chr5:96378800-96379800	Weak transcription	Fetal Lung	lung
42	chr5:96378800-96380400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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