Variant report

Variant	rs4727682
Chromosome Location	chr7:107105365-107105366
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	chr7:107105274..107109720-chr7:107110378..107116920,7	K562	blood:
2	chr7:107103654..107106333-chr7:107361202..107363848,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172209	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1015410	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs1018869	0.96[EUR][1000 genomes]
rs1024401	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10244871	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs10245210	0.85[EUR][1000 genomes]
rs10260250	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10267425	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10267978	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10276321	0.96[EUR][1000 genomes]
rs10953538	0.85[EUR][1000 genomes]
rs11761775	0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[AFR][1000 genomes]
rs12532304	0.85[EUR][1000 genomes]
rs12534598	0.82[CHB][hapmap];0.91[JPT][hapmap];0.94[AFR][1000 genomes]
rs12668615	0.91[JPT][hapmap]
rs1468335	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1858889	0.88[EUR][1000 genomes]
rs2237667	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2250410	0.89[CEU][hapmap];0.98[EUR][1000 genomes]
rs2253856	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs2283042	0.92[EUR][1000 genomes]
rs2520257	0.97[EUR][1000 genomes]
rs2520258	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2520259	0.96[EUR][1000 genomes]
rs2520262	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2520266	0.95[EUR][1000 genomes]
rs2520270	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2520272	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2520276	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2520278	0.88[EUR][1000 genomes]
rs2520279	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs2712186	0.95[EUR][1000 genomes]
rs2712188	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2712192	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs2712194	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs2712203	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2712213	0.95[EUR][1000 genomes]
rs2712217	0.96[EUR][1000 genomes]
rs2712223	0.94[EUR][1000 genomes]
rs2712225	0.91[EUR][1000 genomes]
rs28410326	0.87[EUR][1000 genomes]
rs3779496	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4610672	0.90[EUR][1000 genomes]
rs4730244	0.89[JPT][hapmap];0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs60490203	0.96[EUR][1000 genomes]
rs62483724	0.95[EUR][1000 genomes]
rs6466172	0.99[EUR][1000 genomes]
rs6466174	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6945488	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6954422	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6962433	0.96[EUR][1000 genomes]
rs6966616	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6968804	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs6979121	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs711442	0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[AFR][1000 genomes]
rs7786186	0.88[EUR][1000 genomes]
rs7787113	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs7791955	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs7805630	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825788	chr7:106897237-107136320	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1024793	chr7:106900877-107170312	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv1832266	chr7:106961882-107136320	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv1019963	chr7:107033342-107188641	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv539052	chr7:107033342-107188641	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107035800-107133000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:107052600-107126400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:107067600-107119800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:107079600-107108600	Weak transcription	Right Ventricle	heart
5	chr7:107082800-107109000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:107083400-107115400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:107084400-107109200	Weak transcription	Fetal Intestine Large	intestine
8	chr7:107087800-107112000	Weak transcription	NHDF-Ad	bronchial
9	chr7:107088600-107126000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:107090000-107114600	Weak transcription	Primary T cells from cord blood	blood
11	chr7:107090800-107146000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:107091000-107145800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr7:107097000-107112200	Weak transcription	Fetal Lung	lung
14	chr7:107098000-107108000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:107098800-107132600	Weak transcription	Primary B cells from cord blood	blood
16	chr7:107099600-107110400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:107101800-107105600	Enhancers	Fetal Heart	heart
18	chr7:107102200-107105600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:107103400-107105400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr7:107103400-107105400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr7:107103600-107110000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:107103800-107105400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:107103800-107105400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr7:107103800-107109800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:107104200-107118000	Weak transcription	NHEK	skin
26	chr7:107104200-107121000	Weak transcription	K562	blood
27	chr7:107104400-107109800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:107104400-107110400	Weak transcription	Left Ventricle	heart
29	chr7:107104400-107112400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:107104600-107105400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:107104600-107110000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:107104800-107105400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:107104800-107105600	Enhancers	Brain Substantia Nigra	brain
34	chr7:107105000-107105600	Enhancers	Brain Angular Gyrus	brain
35	chr7:107105000-107105600	Enhancers	Brain Anterior Caudate	brain
36	chr7:107105200-107105400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:107105200-107105600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:107105200-107105600	Enhancers	Brain Hippocampus Middle	brain
39	chr7:107105200-107110600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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