Variant report

Variant	rs6784214
Chromosome Location	chr3:46151369-46151370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:46148560..46157677-chr3:46203034..46208483,12	MCF-7	breast:
2	chr3:46145999..46148966-chr3:46149561..46152328,4	K562	blood:
3	chr3:46150790..46153435-chr3:46242926..46245585,2	MCF-7	breast:
4	chr3:46129568..46133226-chr3:46150928..46153874,4	MCF-7	breast:
5	chr3:46145905..46148811-chr3:46150645..46152455,3	MCF-7	breast:
6	chr3:46145999..46148622-chr3:46149561..46152053,3	K562	blood:
7	chr3:46130825..46132979-chr3:46149857..46153032,4	MCF-7	breast:
8	chr3:46149777..46152755-chr3:46160739..46163366,2	MCF-7	breast:
9	chr3:46149539..46152315-chr3:46168852..46171063,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183625	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs11130085	0.90[ASN][1000 genomes]
rs11130086	0.91[ASN][1000 genomes]
rs1118879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11917890	0.90[ASN][1000 genomes]
rs11929281	0.90[ASN][1000 genomes]
rs12485978	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12496322	0.90[ASN][1000 genomes]
rs12629632	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12637023	0.90[ASN][1000 genomes]
rs13060901	0.92[CEU][hapmap]
rs13065737	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13073861	0.93[ASN][1000 genomes]
rs13077099	0.90[ASN][1000 genomes]
rs13077923	0.92[ASN][1000 genomes]
rs13078053	0.93[ASN][1000 genomes]
rs13082280	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13098271	0.81[ASN][1000 genomes]
rs13434029	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13434336	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1392290	0.88[CEU][hapmap]
rs1491959	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1500005	0.81[ASN][1000 genomes]
rs1546077	1.00[CEU][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]
rs1546078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1602579	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1604069	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17078577	0.90[ASN][1000 genomes]
rs1909595	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1909596	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1976366	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976367	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2131091	0.92[ASN][1000 genomes]
rs2201984	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2220678	0.92[ASN][1000 genomes]
rs2373150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2373151	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2373153	0.90[ASN][1000 genomes]
rs2373154	0.85[ASN][1000 genomes]
rs34067839	0.92[ASN][1000 genomes]
rs34381514	0.81[ASN][1000 genomes]
rs34906043	0.81[ASN][1000 genomes]
rs35359253	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35435608	0.81[ASN][1000 genomes]
rs35462017	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35567508	0.93[ASN][1000 genomes]
rs35657218	0.81[ASN][1000 genomes]
rs36111470	0.92[ASN][1000 genomes]
rs3851347	0.89[CEU][hapmap]
rs4314213	0.87[EUR][1000 genomes]
rs4318588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4333119	0.81[ASN][1000 genomes]
rs4682806	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4682809	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682810	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683168	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4683175	0.90[ASN][1000 genomes]
rs4683178	0.90[ASN][1000 genomes]
rs56307311	0.92[ASN][1000 genomes]
rs59521415	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61079448	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6441944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6764042	0.88[CEU][hapmap]
rs6776028	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6780163	0.88[CEU][hapmap]
rs6794103	0.90[ASN][1000 genomes]
rs6794475	0.90[ASN][1000 genomes]
rs6795629	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6800484	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6809381	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7610518	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7616464	0.81[ASN][1000 genomes]
rs7623460	0.88[CEU][hapmap]
rs7631598	0.82[ASN][1000 genomes]
rs7642701	0.81[ASN][1000 genomes]
rs9311386	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9311387	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9637425	0.89[ASN][1000 genomes]
rs9824886	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9870445	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9876587	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9990063	0.82[EUR][1000 genomes];0.97[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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46129400-46154200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:46131400-46152200	Weak transcription	Pancreas	Pancrea
3	chr3:46143800-46153000	Enhancers	Fetal Thymus	thymus
4	chr3:46145200-46152400	Enhancers	Dnd41	blood
5	chr3:46146800-46164400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:46147600-46151400	Enhancers	Thymus	Thymus
7	chr3:46148200-46152800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr3:46148400-46160200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:46148600-46152800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr3:46148800-46151400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr3:46148800-46152800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr3:46149000-46151600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr3:46149000-46152000	Enhancers	GM12878-XiMat	blood
14	chr3:46149000-46152000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr3:46149200-46151400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:46149200-46158800	Enhancers	NHLF	lung
17	chr3:46149200-46159800	Enhancers	Placenta	Placenta
18	chr3:46149400-46151400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:46149400-46152800	Enhancers	HSMM	muscle
20	chr3:46149600-46151400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr3:46149600-46151400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:46149600-46152600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:46150000-46151600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr3:46150000-46151600	Enhancers	NHEK	skin
25	chr3:46150000-46152400	Enhancers	Hela-S3	cervix
26	chr3:46150000-46153000	Enhancers	Fetal Lung	lung
27	chr3:46150000-46157600	Enhancers	HMEC	breast
28	chr3:46150200-46152200	Weak transcription	Fetal Stomach	stomach
29	chr3:46150200-46152400	Enhancers	Primary B cells from cord blood	blood
30	chr3:46150200-46152600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr3:46150400-46151400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr3:46150400-46151400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr3:46150400-46151400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:46150400-46151600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr3:46150400-46151600	Enhancers	NH-A	brain
36	chr3:46150400-46158800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:46150600-46151400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr3:46150600-46151400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:46150600-46152200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr3:46150600-46153000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr3:46150600-46158600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:46150800-46151400	Enhancers	NHDF-Ad	bronchial
43	chr3:46150800-46152400	Enhancers	Osteobl	bone
44	chr3:46150800-46154000	Weak transcription	HSMMtube	muscle
45	chr3:46151000-46151400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:46151000-46152000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:46151000-46152200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:46151000-46152200	Weak transcription	Lung	lung
49	chr3:46151000-46152200	Weak transcription	Spleen	Spleen
50	chr3:46151000-46155800	Weak transcription	Liver	Liver

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