Variant report

Variant	rs4981273
Chromosome Location	chr14:35666461-35666462
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35665653..35668346-chr14:35670168..35673640,4	K562	blood:
2	chr14:35664498..35666606-chr14:35871768..35874425,2	MCF-7	breast:
3	chr14:35626299..35628369-chr14:35665906..35667579,2	MCF-7	breast:
4	chr14:35665653..35667827-chr14:35670189..35673146,2	K562	blood:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction
ENSG00000259090	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10129963	1.00[YRI][hapmap]
rs10134834	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1074269	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs11156876	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11621075	0.87[ASN][1000 genomes]
rs12433113	0.80[CEU][hapmap];0.96[ASN][1000 genomes]
rs12587689	0.85[ASN][1000 genomes]
rs12878391	0.88[ASN][1000 genomes]
rs17512585	0.88[ASN][1000 genomes]
rs1884716	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2415276	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2415277	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2415279	0.88[ASN][1000 genomes]
rs2415286	0.88[ASN][1000 genomes]
rs28525079	0.82[ASN][1000 genomes]
rs2899831	0.94[CEU][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34624268	0.80[EUR][1000 genomes]
rs3742370	0.87[ASN][1000 genomes]
rs4530028	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4981274	0.80[EUR][1000 genomes]
rs6571708	0.82[YRI][hapmap]
rs6571710	0.82[ASN][1000 genomes]
rs7143346	0.94[CEU][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7157492	0.90[ASN][1000 genomes]
rs7157736	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7158402	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8003136	0.96[ASN][1000 genomes]
rs8004740	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8005078	1.00[CEU][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8005252	1.00[YRI][hapmap]
rs8008319	1.00[CEU][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8011465	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs8012774	0.88[YRI][hapmap]
rs8015175	0.87[CEU][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8181982	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS 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	73 gene(s)	inside rSNPs	diseases
2	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	65 gene(s)	inside rSNPs	diseases
4	nsv564264	chr14:35482797-35732369	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1044515	chr14:35510785-35756317	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv1046992	chr14:35527239-35724227	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
8	nsv1051274	chr14:35529529-35724227	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv1048823	chr14:35537281-35724892	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
10	nsv542032	chr14:35537281-35724892	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv1040540	chr14:35537481-35724753	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv542033	chr14:35537481-35724753	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv1042625	chr14:35546094-35680358	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
14	nsv1050123	chr14:35546114-35724892	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers 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	27 gene(s)	inside rSNPs	diseases
15	nsv542034	chr14:35546114-35724892	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv1043692	chr14:35548276-35720016	Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
18	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
19	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35604600-35667400	Weak transcription	Spleen	Spleen
2	chr14:35628600-35670200	Weak transcription	Thymus	Thymus
3	chr14:35628600-35672000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:35630600-35670200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr14:35637000-35670200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:35643400-35671800	Weak transcription	Fetal Thymus	thymus
7	chr14:35643400-35724000	Weak transcription	Left Ventricle	heart
8	chr14:35650400-35682200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:35650600-35702600	Weak transcription	Liver	Liver
10	chr14:35650800-35707800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:35651000-35670200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr14:35651400-35670200	Weak transcription	Dnd41	blood
13	chr14:35655800-35691800	Weak transcription	Psoas Muscle	Psoas
14	chr14:35660400-35683200	Weak transcription	HSMMtube	muscle
15	chr14:35661000-35672200	Weak transcription	Aorta	Aorta
16	chr14:35661000-35683400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:35661000-35690000	Weak transcription	Fetal Stomach	stomach
18	chr14:35661000-35736400	Weak transcription	Fetal Intestine Small	intestine
19	chr14:35661200-35670200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr14:35661400-35682200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:35661600-35683000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:35661800-35670200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr14:35661800-35670200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:35662000-35671600	Weak transcription	HepG2	liver
25	chr14:35662400-35670400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr14:35663200-35667200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:35663200-35680200	Weak transcription	Primary B cells from cord blood	blood
28	chr14:35663400-35670200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr14:35663600-35670200	Weak transcription	Primary T cells from cord blood	blood
30	chr14:35664000-35670800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:35665000-35667800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:35665000-35667800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:35665200-35666600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:35665600-35666600	Enhancers	NHDF-Ad	bronchial
35	chr14:35665600-35666800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:35665600-35666800	Enhancers	A549	lung
37	chr14:35665600-35666800	Enhancers	Hela-S3	cervix
38	chr14:35665600-35667400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr14:35665600-35667600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:35665600-35667600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr14:35665800-35666600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:35665800-35666600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:35665800-35666600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr14:35665800-35666600	Enhancers	NHLF	lung
45	chr14:35666000-35670200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr14:35666000-35670200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:35666200-35670200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:35666200-35670200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:35666200-35670400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr14:35666200-35671800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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