Variant report

Variant	rs6802312
Chromosome Location	chr3:46025941-46025942
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	chr3:46024602..46026106-chr3:46028613..46030507,2	MCF-7	breast:
2	chr3:46015505..46018391-chr3:46024106..46026296,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1047444	0.94[GIH][hapmap]
rs1388605	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1388606	0.83[EUR][1000 genomes]
rs1388608	0.83[EUR][1000 genomes]
rs1392288	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs1463680	0.83[CEU][hapmap]
rs1488373	0.94[GIH][hapmap]
rs1491949	0.83[EUR][1000 genomes]
rs1546076	1.00[CEU][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs1566419	0.83[EUR][1000 genomes]
rs1809733	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1826342	0.83[EUR][1000 genomes]
rs1873616	0.82[EUR][1000 genomes]
rs2101446	0.99[EUR][1000 genomes]
rs2373148	0.95[CEU][hapmap]
rs2373149	0.83[EUR][1000 genomes]
rs2373152	0.82[EUR][1000 genomes]
rs2373155	0.91[CEU][hapmap]
rs4682801	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4682811	0.82[EUR][1000 genomes]
rs4683158	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4683177	0.83[EUR][1000 genomes]
rs6441938	0.83[EUR][1000 genomes]
rs6764244	0.94[GIH][hapmap]
rs6767559	0.83[EUR][1000 genomes]
rs6786959	0.95[CEU][hapmap]
rs6807578	0.81[EUR][1000 genomes]
rs6808712	0.83[EUR][1000 genomes]
rs6809223	0.95[CEU][hapmap]
rs7610953	0.83[EUR][1000 genomes]
rs7622333	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs7625348	0.83[EUR][1000 genomes]
rs7638309	0.95[CEU][hapmap]
rs7653682	1.00[CEU][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs902760	0.83[EUR][1000 genomes]
rs904634	0.98[EUR][1000 genomes]
rs9311388	0.83[EUR][1000 genomes]
rs9810934	0.94[GIH][hapmap]
rs9820016	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs9849771	0.81[EUR][1000 genomes]
rs9869458	0.83[EUR][1000 genomes]
rs9875616	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr3:45986400-46026600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:45986600-46026800	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:45987200-46027200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:45987400-46026600	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:45987800-46026400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr3:45987800-46026800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:45987800-46027200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:45988000-46026600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:46000000-46029600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:46002600-46027200	Weak transcription	A549	lung
11	chr3:46008600-46026400	Strong transcription	Hela-S3	cervix
12	chr3:46009000-46027800	Weak transcription	Fetal Brain Male	brain
13	chr3:46010200-46027000	Weak transcription	Fetal Brain Female	brain
14	chr3:46010200-46029600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:46010200-46033000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:46013000-46026200	Weak transcription	Brain Germinal Matrix	brain
17	chr3:46013600-46034000	Genic enhancers	Fetal Thymus	thymus
18	chr3:46014000-46026400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr3:46014200-46026000	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr3:46015400-46026400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:46015600-46027200	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:46015800-46026400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:46015800-46026800	Strong transcription	Brain Hippocampus Middle	brain
24	chr3:46015800-46027600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr3:46016000-46026600	Strong transcription	Primary B cells from peripheral blood	blood
26	chr3:46016200-46027800	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr3:46017600-46026200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:46018800-46026800	Strong transcription	Primary hematopoietic stem cells	blood
29	chr3:46019200-46026800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:46019400-46030000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr3:46019600-46026200	Strong transcription	Adipose Nuclei	Adipose
32	chr3:46020000-46034200	Genic enhancers	Dnd41	blood
33	chr3:46020400-46027200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:46020800-46027000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr3:46021400-46026800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr3:46021400-46028200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:46021400-46036200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:46021600-46026400	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr3:46021600-46034000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr3:46021800-46026600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:46022200-46026000	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr3:46022200-46026200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr3:46022400-46026400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr3:46022400-46027400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr3:46022600-46026200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr3:46022600-46026200	Strong transcription	Brain Angular Gyrus	brain
47	chr3:46022600-46026400	Strong transcription	Brain Cingulate Gyrus	brain
48	chr3:46022600-46026400	Genic enhancers	Colon Smooth Muscle	Colon
49	chr3:46022600-46027600	Strong transcription	GM12878-XiMat	blood
50	chr3:46022600-46028000	Strong transcription	Primary B cells from cord blood	blood

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