Variant report

Variant	rs4695307
Chromosome Location	chr4:47913680-47913681
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	chr4:47912116..47914767-chr4:47915076..47916747,3	MCF-7	breast:
2	chr4:47908070..47910141-chr4:47912067..47913855,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163293	Chromatin interaction
ENSG00000170448	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10025104	0.94[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs10030927	0.89[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs10938503	0.92[ASN][1000 genomes]
rs10938515	0.93[EUR][1000 genomes]
rs10938516	1.00[CEU][hapmap];0.92[CHB][hapmap]
rs11944982	0.87[EUR][1000 genomes]
rs12503789	0.93[ASN][1000 genomes]
rs13139958	0.82[JPT][hapmap]
rs1371730	0.89[ASN][1000 genomes]
rs1440227	0.89[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs1507920	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1507922	1.00[CHB][hapmap]
rs1583808	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16860658	0.82[JPT][hapmap]
rs16860723	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16860815	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17654669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2033897	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2033898	0.89[ASN][1000 genomes]
rs2053404	0.94[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs2053408	0.91[EUR][1000 genomes]
rs2289433	0.94[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs2352145	0.92[ASN][1000 genomes]
rs2352411	0.80[EUR][1000 genomes]
rs321620	0.94[CHB][hapmap]
rs4518215	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4529019	0.89[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs4694867	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4694872	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs4695277	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4695285	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4695286	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4695290	0.89[ASN][1000 genomes]
rs4695292	0.91[ASN][1000 genomes]
rs4695300	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4695303	0.94[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs4695306	1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs4695308	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695321	0.87[EUR][1000 genomes]
rs57010305	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58511183	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59936075	0.87[EUR][1000 genomes]
rs60427744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60515154	0.93[ASN][1000 genomes]
rs61654183	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6414687	0.94[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs6447586	0.89[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs6447592	0.92[ASN][1000 genomes]
rs6447593	0.89[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs6447601	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6447605	0.87[EUR][1000 genomes]
rs6447606	0.87[EUR][1000 genomes]
rs6447608	0.87[EUR][1000 genomes]
rs6811385	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6816082	0.92[ASN][1000 genomes]
rs6816153	0.87[EUR][1000 genomes]
rs6818556	0.94[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs6822668	0.89[ASN][1000 genomes]
rs6827508	0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs6829804	0.87[EUR][1000 genomes]
rs6838837	0.93[EUR][1000 genomes]
rs6839185	0.87[EUR][1000 genomes]
rs6844286	0.89[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs6854375	1.00[CEU][hapmap];0.92[CHB][hapmap]
rs73238637	0.97[EUR][1000 genomes]
rs73238638	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73238639	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73244433	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73244436	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73244437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73244438	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73244439	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73244442	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73244446	0.90[EUR][1000 genomes]
rs73244450	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73244455	0.93[EUR][1000 genomes]
rs73244464	0.90[EUR][1000 genomes]
rs73244465	0.87[EUR][1000 genomes]
rs73244466	0.87[EUR][1000 genomes]
rs73244467	0.87[EUR][1000 genomes]
rs7663935	0.87[ASN][1000 genomes]
rs7667811	0.87[EUR][1000 genomes]
rs7687363	0.89[ASN][1000 genomes]
rs7690103	0.87[EUR][1000 genomes]
rs7690562	0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs920462	0.89[ASN][1000 genomes]
rs9291317	0.94[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs9683791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594118	chr4:47560386-47917730	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47876000-47915200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:47876200-47915200	Weak transcription	Right Ventricle	heart
3	chr4:47876400-47915200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:47876800-47915800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:47877400-47913800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:47882200-47915200	Weak transcription	Stomach Mucosa	stomach
7	chr4:47883200-47913800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:47883200-47914400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:47890400-47913800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:47890400-47914200	Strong transcription	Liver	Liver
11	chr4:47894600-47915200	Weak transcription	Aorta	Aorta
12	chr4:47894600-47915200	Weak transcription	Gastric	stomach
13	chr4:47895000-47913800	Weak transcription	Fetal Heart	heart
14	chr4:47898200-47915200	Weak transcription	Small Intestine	intestine
15	chr4:47898400-47915000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:47898400-47915200	Weak transcription	Colonic Mucosa	Colon
17	chr4:47898600-47915200	Weak transcription	Fetal Brain Male	brain
18	chr4:47899600-47915600	Weak transcription	Lung	lung
19	chr4:47899800-47915000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr4:47899800-47915200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:47899800-47915200	Weak transcription	Brain Substantia Nigra	brain
22	chr4:47900000-47913800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:47900000-47914000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:47900000-47915200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:47900200-47915200	Weak transcription	HSMMtube	muscle
26	chr4:47900600-47915200	Weak transcription	Thymus	Thymus
27	chr4:47901000-47915200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr4:47901000-47915200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr4:47901000-47915200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr4:47901200-47915000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr4:47901200-47915200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:47901400-47915200	Weak transcription	Colon Smooth Muscle	Colon
33	chr4:47901600-47913800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr4:47902000-47915200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr4:47902600-47915200	Weak transcription	Pancreas	Pancrea
36	chr4:47904000-47914000	Strong transcription	Fetal Intestine Large	intestine
37	chr4:47905200-47915200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:47906000-47913800	Strong transcription	K562	blood
39	chr4:47906200-47914400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:47906600-47915000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:47906600-47915200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:47906600-47915200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr4:47906600-47915200	Weak transcription	Spleen	Spleen
44	chr4:47906600-47915400	Weak transcription	Esophagus	oesophagus
45	chr4:47906800-47915200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:47906800-47915600	Weak transcription	Left Ventricle	heart
47	chr4:47907000-47915200	Weak transcription	Brain Hippocampus Middle	brain
48	chr4:47907800-47915200	Weak transcription	Brain Germinal Matrix	brain
49	chr4:47907800-47915200	Weak transcription	Psoas Muscle	Psoas
50	chr4:47908200-47915200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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