Variant report

Variant	rs11847098
Chromosome Location	chr14:81973666-81973667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:81973629-81973794	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81970292..81972362-chr14:81972711..81975217,3	K562	blood:

Variant related genes	Relation type
SEL1L	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10135007	0.88[EUR][1000 genomes]
rs10141903	0.88[EUR][1000 genomes]
rs11159502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12889565	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12890754	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12893669	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12896918	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12897062	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1885599	0.91[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.88[YRI][hapmap]
rs1951605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951609	0.86[CEU][hapmap];0.82[GIH][hapmap]
rs2025214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28455614	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4584759	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4903983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4903984	1.00[ASW][hapmap];0.91[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.90[TSI][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4903985	0.86[CEU][hapmap]
rs7150294	0.87[EUR][1000 genomes]
rs7150676	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7401055	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv902120	chr14:81953242-82067555	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81938400-81974000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:81938400-81977000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr14:81938800-81977600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:81939600-81974600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr14:81940600-81975000	Strong transcription	Liver	Liver
6	chr14:81941200-81973800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr14:81941200-81973800	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr14:81941400-81975600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:81941600-81974600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:81941600-81975000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:81941600-81975200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:81941800-81975000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr14:81941800-81985600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr14:81942000-81975000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:81942000-81976600	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr14:81942600-81975000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:81943400-81976400	Strong transcription	Dnd41	blood
18	chr14:81943600-81977000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:81947200-81974800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr14:81948400-81974400	Strong transcription	Placenta	Placenta
21	chr14:81948600-81975800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:81948800-81973800	Strong transcription	Fetal Thymus	thymus
23	chr14:81948800-81974000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:81948800-81977800	Strong transcription	Primary B cells from cord blood	blood
25	chr14:81949600-81975400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:81950000-81975400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:81950200-81974600	Strong transcription	Primary T cells from cord blood	blood
28	chr14:81950400-81974800	Strong transcription	Fetal Brain Female	brain
29	chr14:81958400-81976400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:81958800-81974800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:81959000-81974200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:81960200-81983600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr14:81960400-81973800	Strong transcription	Brain Angular Gyrus	brain
34	chr14:81960400-81985800	Weak transcription	Stomach Mucosa	stomach
35	chr14:81962600-81977600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:81963000-81973800	Strong transcription	GM12878-XiMat	blood
37	chr14:81963200-81974200	Strong transcription	HSMM	muscle
38	chr14:81964000-81980000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:81964200-81985200	Weak transcription	K562	blood
40	chr14:81964400-81983000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr14:81966800-81974800	Strong transcription	HSMMtube	muscle
42	chr14:81966800-81976200	Weak transcription	Psoas Muscle	Psoas
43	chr14:81967000-81973800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:81967000-81974800	Strong transcription	Fetal Lung	lung
45	chr14:81967200-81973800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:81967200-81973800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr14:81967200-81973800	Strong transcription	Ovary	ovary
48	chr14:81967200-81974000	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr14:81967200-81974400	Strong transcription	Rectal Smooth Muscle	rectum
50	chr14:81967400-81976000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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