Variant report

Variant	rs6440086
Chromosome Location	chr3:142233470-142233471
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	chr3:142232153..142234194-chr3:142243013..142245479,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10935465	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1129393	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13065075	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13067795	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13069307	0.85[ASN][1000 genomes]
rs13085998	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13093869	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13098343	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2227928	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2227930	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28617475	0.84[ASN][1000 genomes]
rs3922730	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4273389	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4597728	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6414350	0.85[ASN][1000 genomes]
rs6440087	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6440088	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6440089	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6440090	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6440091	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6440092	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6440093	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6440094	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6768093	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6770155	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6775583	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6775718	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6780250	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6782400	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6785675	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6791816	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6792259	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6799752	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7610557	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7623524	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7630130	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7634158	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7641330	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7647573	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7651071	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7651542	0.83[ASN][1000 genomes]
rs9683085	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9808914	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9808943	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9816736	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9820353	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9820770	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9825207	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9828178	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9846960	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9855140	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9855919	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9869842	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9876254	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9879995	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers 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	51 gene(s)	inside rSNPs	diseases
2	nsv877558	chr3:142123841-142331360	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv877559	chr3:142132749-142331360	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
4	nsv877560	chr3:142132749-142362179	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv877561	chr3:142152925-142331360	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv932989	chr3:142204208-142423305	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv933680	chr3:142211643-142287189	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv591919	chr3:142219542-142308070	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142167400-142234600	Weak transcription	Psoas Muscle	Psoas
2	chr3:142200400-142243800	Weak transcription	Fetal Heart	heart
3	chr3:142200600-142271800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:142201000-142239600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:142201000-142240600	Weak transcription	Fetal Brain Male	brain
6	chr3:142201600-142273200	Weak transcription	Esophagus	oesophagus
7	chr3:142201800-142240600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr3:142201800-142243600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr3:142201800-142273800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:142202000-142235200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr3:142202000-142239600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:142202200-142240200	Weak transcription	Colon Smooth Muscle	Colon
13	chr3:142203000-142255200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:142203800-142255200	Weak transcription	Gastric	stomach
15	chr3:142204200-142253000	Weak transcription	Brain Substantia Nigra	brain
16	chr3:142204200-142273200	Weak transcription	Spleen	Spleen
17	chr3:142204200-142281400	Weak transcription	Colonic Mucosa	Colon
18	chr3:142207400-142238600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:142208800-142239600	Weak transcription	Fetal Brain Female	brain
20	chr3:142209400-142271800	Weak transcription	HepG2	liver
21	chr3:142210400-142240600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:142211400-142240600	Weak transcription	Brain Germinal Matrix	brain
23	chr3:142212000-142251400	Weak transcription	Brain Anterior Caudate	brain
24	chr3:142212600-142240000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:142212600-142240000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr3:142212800-142238600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr3:142213600-142238800	Weak transcription	Ovary	ovary
28	chr3:142217600-142239200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:142218200-142251200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:142220200-142251200	Weak transcription	NHDF-Ad	bronchial
31	chr3:142220200-142252400	Weak transcription	NHLF	lung
32	chr3:142220600-142253000	Weak transcription	HMEC	breast
33	chr3:142220800-142251400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr3:142221000-142249400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr3:142221200-142235200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:142224200-142240400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr3:142225600-142241600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:142226000-142238600	Weak transcription	GM12878-XiMat	blood
39	chr3:142226000-142240000	Weak transcription	Brain Angular Gyrus	brain
40	chr3:142226000-142287200	Weak transcription	Right Ventricle	heart
41	chr3:142226400-142251800	Weak transcription	Lung	lung
42	chr3:142226600-142238600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr3:142226600-142238800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr3:142226600-142240000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:142226600-142251000	Weak transcription	Brain Hippocampus Middle	brain
46	chr3:142226600-142252200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr3:142226800-142239000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr3:142226800-142240200	Weak transcription	Osteobl	bone
49	chr3:142227000-142235000	Weak transcription	Hela-S3	cervix
50	chr3:142227000-142240000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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