Variant report

Variant	rs1157696
Chromosome Location	chr5:112611986-112611987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112611052..112612599-chr5:112628891..112631844,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171444	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10038521	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10051115	1.00[JPT][hapmap]
rs10053341	1.00[JPT][hapmap]
rs10061462	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10434754	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13154300	0.84[CEU][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13159509	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13164135	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13164326	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13170435	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13171482	1.00[JPT][hapmap]
rs13174075	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs13174151	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13174206	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13177853	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13180516	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13181534	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs13181732	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13181944	0.83[ASN][1000 genomes]
rs13183383	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13184538	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13187823	0.83[ASN][1000 genomes]
rs13189050	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17325307	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17325503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17325825	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17327964	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17388260	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17389165	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1838206	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1922678	0.90[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1922679	0.89[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34558181	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34951736	0.83[ASN][1000 genomes]
rs35359071	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4438866	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs58268366	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6594698	0.87[EUR][1000 genomes]
rs6594713	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6594714	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs66572866	0.83[ASN][1000 genomes]
rs67320720	0.83[ASN][1000 genomes]
rs67693032	0.83[ASN][1000 genomes]
rs6870401	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6871934	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6874175	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6880562	0.84[ASN][1000 genomes]
rs6883102	0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6887482	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6887914	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6890874	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6896843	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs71577442	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71577447	0.83[ASN][1000 genomes]
rs71577448	0.83[ASN][1000 genomes]
rs7701895	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7709646	0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7714760	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7717630	1.00[JPT][hapmap]
rs7718616	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7720414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7727056	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7727501	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7729269	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7731231	1.00[JPT][hapmap]
rs7737512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112586600-112623600	Weak transcription	Pancreas	Pancrea
2	chr5:112587600-112617000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:112600200-112618000	Weak transcription	Fetal Kidney	kidney
4	chr5:112601000-112612400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:112602200-112616600	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:112603000-112616800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:112603800-112612200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:112604400-112612600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:112604600-112612600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:112605400-112612400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:112606600-112614000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:112607200-112614400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:112607600-112616200	Weak transcription	Esophagus	oesophagus
14	chr5:112608000-112628200	Weak transcription	HMEC	breast
15	chr5:112608200-112612200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:112608400-112612000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:112608400-112612000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:112608400-112612200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:112608600-112612000	Enhancers	Brain Germinal Matrix	brain
20	chr5:112608600-112612400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:112608800-112612200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:112609000-112612000	Enhancers	Fetal Brain Male	brain
23	chr5:112609000-112612200	Enhancers	Ovary	ovary
24	chr5:112609200-112612400	Enhancers	Fetal Heart	heart
25	chr5:112609600-112612000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:112609600-112612000	Enhancers	Right Ventricle	heart
27	chr5:112609600-112612600	Enhancers	Left Ventricle	heart
28	chr5:112609600-112614800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:112610000-112628200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:112610400-112612200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr5:112610600-112612000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:112610600-112612000	Enhancers	Fetal Muscle Leg	muscle
33	chr5:112610600-112612000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr5:112610600-112612000	Enhancers	Stomach Smooth Muscle	stomach
35	chr5:112610600-112612000	Enhancers	HSMMtube	muscle
36	chr5:112610600-112612200	Enhancers	Liver	Liver
37	chr5:112610800-112612000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:112610800-112616400	Weak transcription	Spleen	Spleen
39	chr5:112610800-112623200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:112611000-112612400	Enhancers	Brain Cingulate Gyrus	brain
41	chr5:112611000-112614200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:112611000-112614200	Weak transcription	NH-A	brain
43	chr5:112611000-112614400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:112611000-112614800	Weak transcription	NHEK	skin
45	chr5:112611000-112616600	Weak transcription	Psoas Muscle	Psoas
46	chr5:112611000-112618000	Weak transcription	Fetal Stomach	stomach
47	chr5:112611000-112628200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:112611200-112612200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr5:112611200-112612400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr5:112611200-112618000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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