Variant report

Variant	rs4718906
Chromosome Location	chr7:69219004-69219005
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	chr7:69217367..69219990-chr7:69230270..69231785,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1014417	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10245786	0.84[ASN][1000 genomes]
rs10259748	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11508453	0.82[ASN][1000 genomes]
rs11763186	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11974201	0.81[AFR][1000 genomes]
rs12333974	0.84[ASN][1000 genomes]
rs12698816	0.83[ASN][1000 genomes]
rs17140933	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17140980	0.82[AFR][1000 genomes]
rs17140982	0.83[AFR][1000 genomes]
rs1860488	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1985165	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs210591	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs210593	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs210594	0.90[ASN][1000 genomes]
rs210596	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs210599	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs210601	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs210604	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs210606	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2533427	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2533428	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2533429	0.87[ASN][1000 genomes]
rs2533430	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2533431	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2533433	0.88[ASN][1000 genomes]
rs2533435	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2533441	0.81[AFR][1000 genomes]
rs2533442	0.81[AFR][1000 genomes]
rs2533449	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2533458	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2851483	0.87[ASN][1000 genomes]
rs2851484	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2851487	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2851514	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2851515	0.87[ASN][1000 genomes]
rs2851516	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2865805	0.82[ASN][1000 genomes]
rs34221396	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4717520	0.94[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs5005279	0.93[JPT][hapmap];0.93[YRI][hapmap]
rs505949	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs513150	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs532820	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs547630	0.88[ASN][1000 genomes]
rs55990156	0.92[ASN][1000 genomes]
rs565505	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs576193	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs576293	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs585282	0.85[CHB][hapmap];0.88[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs589983	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs590609	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs593063	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs595681	0.94[ASW][hapmap];0.80[CHB][hapmap];0.85[CHD][hapmap];0.88[JPT][hapmap];0.98[LWK][hapmap];0.96[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs610930	0.94[ASW][hapmap];0.80[CHB][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap];0.98[LWK][hapmap];0.96[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs626767	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs627981	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs645245	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6460528	0.83[EUR][1000 genomes]
rs646233	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs649200	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6963882	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6966036	0.81[ASN][1000 genomes]
rs6978134	0.83[ASN][1000 genomes]
rs6979355	0.82[ASN][1000 genomes]
rs726372	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7779010	0.84[ASN][1000 genomes]
rs7786073	0.84[ASN][1000 genomes]
rs7796973	0.83[ASN][1000 genomes]
rs7801117	0.95[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7809145	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs877687	0.82[ASN][1000 genomes]
rs9332399	0.95[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3394718	chr7:69194534-69238432	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1027399	chr7:69197011-69239721	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv538918	chr7:69197011-69239721	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69205200-69221000	Weak transcription	Fetal Brain Male	brain
2	chr7:69205200-69221000	Weak transcription	Right Ventricle	heart
3	chr7:69210200-69219800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:69213800-69219400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:69214000-69221000	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:69214600-69219800	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:69214800-69221000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:69214800-69221000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:69214800-69223000	Weak transcription	NH-A	brain
10	chr7:69215200-69219200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:69215200-69219400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:69215200-69219800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:69215200-69220800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:69215200-69221000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:69215200-69221000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:69215200-69221200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:69215800-69219200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:69216000-69220200	Weak transcription	Brain Anterior Caudate	brain
19	chr7:69216000-69221000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:69216000-69221000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:69216400-69222800	Weak transcription	GM12878-XiMat	blood
22	chr7:69217000-69224600	Enhancers	Fetal Thymus	thymus
23	chr7:69217200-69222000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:69217200-69224200	Enhancers	Thymus	Thymus
25	chr7:69217400-69219200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:69217400-69220200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:69217400-69220800	Weak transcription	Ovary	ovary
28	chr7:69217400-69221000	Weak transcription	Right Atrium	heart
29	chr7:69217400-69237400	Weak transcription	Fetal Muscle Leg	muscle
30	chr7:69217600-69221000	Weak transcription	Fetal Lung	lung
31	chr7:69217600-69221000	Weak transcription	Fetal Stomach	stomach
32	chr7:69217600-69223200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr7:69218200-69219400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr7:69218200-69219600	Weak transcription	Fetal Brain Female	brain
35	chr7:69218400-69219200	Enhancers	Left Ventricle	heart
36	chr7:69218600-69220800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:69218600-69222800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:69218800-69219400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr7:69218800-69224400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:69219000-69219200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:69219000-69219200	Enhancers	Brain Angular Gyrus	brain
42	chr7:69219000-69219600	Enhancers	Primary B cells from peripheral blood	blood
43	chr7:69219000-69219800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:69219000-69220000	Enhancers	H9 Cell Line	embryonic stem cell
45	chr7:69219000-69221200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:69219000-69223600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr7:69219000-69223600	Enhancers	HUES64 Cell Line	embryonic stem cell

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