Variant report

Variant	rs4283757
Chromosome Location	chr5:5451885-5451886
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5451830..5454110-chr5:5465082..5467730,2	MCF-7	breast:
2	chr5:5450771..5453306-chr5:5456043..5458532,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10462631	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1473230	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16875568	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16875578	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16875584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875589	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16875590	0.89[CHB][hapmap];0.87[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16875597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16875609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16875617	1.00[CEU][hapmap];0.81[JPT][hapmap];0.95[EUR][1000 genomes]
rs16875618	1.00[CEU][hapmap];0.81[JPT][hapmap];0.95[EUR][1000 genomes]
rs16875619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16900246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16900247	1.00[CEU][hapmap]
rs2306349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35190184	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3747730	0.81[JPT][hapmap]
rs3806873	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes]
rs3806874	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes]
rs4701700	0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4702268	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4702269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4702270	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4702271	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6874726	1.00[YRI][hapmap]
rs6874736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72646678	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs728079	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73736664	0.95[EUR][1000 genomes]
rs7713294	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7713609	0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7714569	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021802	chr5:5415877-5452886	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv528309	chr5:5434937-5452839	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2757981	chr5:5447098-5764620	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759319	chr5:5447098-5764620	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5430200-5478800	Weak transcription	Stomach Mucosa	stomach
2	chr5:5430800-5460800	Weak transcription	Fetal Heart	heart
3	chr5:5433200-5456800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:5433400-5495200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:5433600-5455400	Weak transcription	Small Intestine	intestine
6	chr5:5434000-5460000	Weak transcription	Psoas Muscle	Psoas
7	chr5:5435000-5454200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:5436600-5468400	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr5:5436600-5470600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr5:5436600-5471400	Strong transcription	Hela-S3	cervix
11	chr5:5436600-5478200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:5436800-5470400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:5436800-5470600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr5:5437200-5470600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:5437200-5477000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr5:5437400-5470800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:5437400-5480000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:5437600-5452600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:5437600-5470600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:5437800-5470600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:5439600-5470600	Strong transcription	Dnd41	blood
22	chr5:5440000-5470600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr5:5440200-5453400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr5:5440600-5456800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:5440800-5460200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:5440800-5471600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:5441200-5468800	Strong transcription	Liver	Liver
28	chr5:5441400-5468400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:5441400-5468800	Strong transcription	Adipose Nuclei	Adipose
30	chr5:5441400-5469000	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:5441400-5470400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:5441600-5459600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:5441600-5465200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr5:5441600-5468800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:5441600-5469000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr5:5441600-5470600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr5:5442400-5475800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr5:5443200-5452200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr5:5443600-5452000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr5:5443600-5454200	Strong transcription	GM12878-XiMat	blood
41	chr5:5444400-5452000	Strong transcription	HUVEC	blood vessel
42	chr5:5445000-5457800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr5:5445200-5454600	Weak transcription	NHLF	lung
44	chr5:5445200-5457000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:5445200-5457400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:5446600-5453200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:5446600-5453400	Weak transcription	Brain Germinal Matrix	brain
48	chr5:5446600-5457000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:5446600-5457000	Weak transcription	Pancreas	Pancrea
50	chr5:5446600-5457000	Weak transcription	Spleen	Spleen

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