Variant report

Variant	rs1981954
Chromosome Location	chr5:111510607-111510608
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:111510441..111511287-chr5:111827720..111828672,2	K562	blood:
2	chr5:111510545..111511303-chr5:111755668..111756501,4	K562	blood:
3	chr5:111510526..111511304-chr5:111827701..111828275,2	MCF-7	breast:
4	chr5:111510501..111511275-chr5:111521767..111522782,4	MCF-7	breast:
5	chr5:111499476..111503077-chr5:111510420..111514419,5	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10043186	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10054560	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10054610	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10056561	0.82[EUR][1000 genomes]
rs10069011	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1078128	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11241153	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12655385	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13165611	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs1560053	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1560054	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1560055	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1560057	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1560058	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1863960	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs2416277	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4957632	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4957634	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4957636	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4958002	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4958003	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4958004	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4958007	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4958008	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4958009	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4958010	0.91[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4958012	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4958013	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4958014	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4958015	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59537089	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6594569	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6594570	0.81[EUR][1000 genomes]
rs6594571	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6594574	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6863063	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6876893	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6884589	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7704087	0.82[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7706160	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7709484	0.87[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7710973	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7711158	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7716309	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7717363	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7719346	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs890757	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs890758	0.87[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong 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	24 gene(s)	inside rSNPs	diseases
6	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv519077	chr5:111506751-111519018	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111497600-111538600	Weak transcription	Small Intestine	intestine
2	chr5:111498200-111518800	Weak transcription	Right Atrium	heart
3	chr5:111499600-111510800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:111501400-111546400	Weak transcription	Spleen	Spleen
5	chr5:111502200-111511000	Weak transcription	Brain Substantia Nigra	brain
6	chr5:111502400-111518800	Weak transcription	Pancreas	Pancrea
7	chr5:111502400-111546400	Weak transcription	Aorta	Aorta
8	chr5:111502800-111546000	Weak transcription	Ovary	ovary
9	chr5:111503600-111519000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:111503600-111527800	Weak transcription	Psoas Muscle	Psoas
11	chr5:111503600-111537400	Weak transcription	Lung	lung
12	chr5:111504000-111510800	Weak transcription	Fetal Stomach	stomach
13	chr5:111504000-111513400	Weak transcription	Hela-S3	cervix
14	chr5:111504400-111517800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:111504800-111510800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:111504800-111518800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:111504800-111541400	Weak transcription	Right Ventricle	heart
18	chr5:111504800-111557800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr5:111504800-111586400	Weak transcription	Gastric	stomach
20	chr5:111505000-111510800	Weak transcription	Primary B cells from cord blood	blood
21	chr5:111505000-111518800	Weak transcription	Esophagus	oesophagus
22	chr5:111505000-111521000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:111505000-111537400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr5:111505600-111521000	Weak transcription	Placenta	Placenta
25	chr5:111505600-111541800	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:111505800-111519000	Weak transcription	Fetal Brain Female	brain
27	chr5:111506000-111518800	Weak transcription	Left Ventricle	heart
28	chr5:111506400-111519000	Weak transcription	Fetal Kidney	kidney
29	chr5:111506600-111514600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:111506800-111516000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:111507200-111517000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:111507600-111518600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:111509800-111510800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:111510200-111510800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:111510200-111511200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr5:111510400-111510800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:111510400-111510800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr5:111510600-111510800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr5:111510600-111510800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:111510600-111510800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:111510600-111510800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:111510600-111510800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:111510600-111510800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:111510600-111510800	Enhancers	Primary B cells from peripheral blood	blood
45	chr5:111510600-111510800	Enhancers	Primary T cells from cord blood	blood
46	chr5:111510600-111510800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr5:111510600-111510800	Enhancers	Primary hematopoietic stem cells	blood
48	chr5:111510600-111510800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr5:111510600-111510800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr5:111510600-111510800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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