Variant report

Variant	rs4447803
Chromosome Location	chr3:119235977-119235978
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119219701..119222345-chr3:119233370..119236233,2	K562	blood:
2	chr3:119165766..119167909-chr3:119234592..119236093,2	MCF-7	breast:
3	chr3:119216267..119219022-chr3:119234970..119238819,4	MCF-7	breast:
4	chr3:119231563..119234574-chr3:119234818..119238744,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113845	Chromatin interaction
ENSG00000272662	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11706028	0.84[ASN][1000 genomes]
rs11706042	0.84[ASN][1000 genomes]
rs11707612	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11709468	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11714738	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714843	0.96[ASN][1000 genomes]
rs11719448	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11720158	0.99[ASN][1000 genomes]
rs11720423	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1599795	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1599796	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17203104	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs17203188	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938	0.95[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1961132	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049500	0.95[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2276713	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs2280670	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2293371	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34090996	0.90[ASN][1000 genomes]
rs3732418	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs3755579	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4461452	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4687851	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs4687854	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs4687863	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4688002	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs4688009	0.96[ASN][1000 genomes]
rs4688011	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4688013	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs57506457	0.89[ASN][1000 genomes]
rs59024323	0.96[ASN][1000 genomes]
rs60938951	0.85[ASN][1000 genomes]
rs62263399	0.83[ASN][1000 genomes]
rs62263404	0.85[ASN][1000 genomes]
rs62263406	0.85[ASN][1000 genomes]
rs62263444	0.92[ASN][1000 genomes]
rs62264483	0.99[ASN][1000 genomes]
rs62264487	0.99[ASN][1000 genomes]
rs6438534	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6788474	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7610335	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9289131	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9832341	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9850413	0.95[CEU][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119218000-119236600	Weak transcription	Aorta	Aorta
2	chr3:119218600-119236600	Weak transcription	Esophagus	oesophagus
3	chr3:119219400-119236800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:119219600-119237000	Weak transcription	Small Intestine	intestine
5	chr3:119219800-119239200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:119220000-119243600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:119220200-119246800	Weak transcription	Stomach Mucosa	stomach
8	chr3:119220800-119243800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:119221000-119244600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:119221200-119243600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr3:119221200-119244400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:119221400-119245400	Strong transcription	Placenta	Placenta
13	chr3:119221600-119237400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:119221600-119244600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:119222000-119245400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr3:119224000-119245200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr3:119225400-119236000	Weak transcription	Pancreas	Pancrea
18	chr3:119225400-119236600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:119226000-119236800	Weak transcription	Right Ventricle	heart
20	chr3:119226000-119245200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:119226000-119245200	Strong transcription	Liver	Liver
22	chr3:119226600-119245200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:119227000-119236800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:119227000-119239800	Weak transcription	Psoas Muscle	Psoas
25	chr3:119227400-119245400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr3:119227600-119236000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:119227800-119236000	Weak transcription	Thymus	Thymus
28	chr3:119228000-119243600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr3:119228000-119250000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:119229000-119236000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:119229200-119240200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:119229200-119244600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:119229400-119237000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:119230400-119236000	Strong transcription	Primary hematopoietic stem cells	blood
35	chr3:119230600-119245400	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr3:119230800-119244400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr3:119231200-119237800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:119231200-119237800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr3:119231200-119244000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:119231600-119236800	Strong transcription	Fetal Muscle Leg	muscle
41	chr3:119231600-119238200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr3:119231600-119238200	Strong transcription	NHLF	lung
43	chr3:119231600-119240000	Strong transcription	HSMM	muscle
44	chr3:119231600-119240000	Strong transcription	Osteobl	bone
45	chr3:119231600-119240600	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr3:119231600-119243400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr3:119231800-119236800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:119231800-119237400	Strong transcription	Fetal Lung	lung
49	chr3:119231800-119238200	Strong transcription	Brain Cingulate Gyrus	brain
50	chr3:119231800-119238800	Strong transcription	NHDF-Ad	bronchial

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