Variant report

Variant	rs2215981
Chromosome Location	chr14:81444967-81444968
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	GATA3	chr14:81444645-81444986	SH-SY5Y	brain:	n/a	n/a
2	GATA2	chr14:81444555-81445205	SH-SY5Y	brain:	n/a	n/a
3	TBP	chr14:81444811-81445011	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81443218..81445707-chr14:81448649..81450326,2	K562	blood:
2	chr14:81442891..81446024-chr14:81447547..81451295,3	K562	blood:

Variant related genes	Relation type
ENSG00000258915	TF binding region
ENSG00000258915	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10136404	0.84[CEU][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs10145099	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1016507	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs1023586	0.85[ASN][1000 genomes]
rs1025253	0.88[CEU][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs1035144	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11159479	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11623416	0.89[CEU][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs12101255	0.85[ASN][1000 genomes]
rs12101261	0.85[ASN][1000 genomes]
rs12431821	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs12878945	0.85[JPT][hapmap]
rs12888082	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs12892825	0.88[CEU][hapmap];0.80[JPT][hapmap]
rs12895801	0.89[CEU][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs1458993	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs17111270	0.88[CEU][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs17111346	0.85[ASN][1000 genomes]
rs17542615	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs17542712	0.86[JPT][hapmap]
rs17613911	0.80[JPT][hapmap]
rs17614081	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs179246	0.83[ASN][1000 genomes]
rs179247	0.86[ASN][1000 genomes]
rs179248	0.86[ASN][1000 genomes]
rs179252	0.90[ASN][1000 genomes]
rs179255	0.91[ASN][1000 genomes]
rs179262	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs179263	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2114703	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs2160215	0.85[ASN][1000 genomes]
rs2217176	0.88[CEU][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs2268459	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs228120	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs228125	0.85[CEU][hapmap]
rs2284726	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2300516	0.90[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs2371416	0.80[CEU][hapmap];0.80[JPT][hapmap]
rs2371457	0.89[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs2371462	0.81[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs2371463	0.86[ASN][1000 genomes]
rs2888046	0.88[CEU][hapmap];0.85[JPT][hapmap]
rs3742721	0.88[CEU][hapmap];0.80[JPT][hapmap]
rs3742722	0.88[CEU][hapmap];0.80[JPT][hapmap]
rs3783948	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3783949	0.90[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs3783950	0.90[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs4411444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4523859	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs4899782	0.89[CEU][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs4899783	0.86[EUR][1000 genomes]
rs4903948	0.88[CEU][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs4903954	0.90[CEU][hapmap];0.89[JPT][hapmap]
rs4903961	0.85[ASN][1000 genomes]
rs56389234	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6574613	0.96[CEU][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs6574617	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67065081	0.85[EUR][1000 genomes]
rs7148368	0.80[JPT][hapmap]
rs7148618	0.85[CEU][hapmap]
rs7150858	0.80[JPT][hapmap]
rs7153979	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs7154132	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs724170	0.86[ASN][1000 genomes]
rs728444	0.81[EUR][1000 genomes]
rs759916	0.81[CEU][hapmap]
rs8003061	0.85[ASN][1000 genomes]
rs8003515	0.90[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs8005883	0.81[EUR][1000 genomes]
rs8009120	0.82[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes]
rs8016601	0.83[CEU][hapmap]
rs8021137	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs8022411	0.89[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81442000-81446000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:81442200-81446200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:81442200-81447600	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:81443800-81445000	Flanking Active TSS	Thymus	Thymus
5	chr14:81443800-81445600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr14:81444000-81445000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr14:81444000-81445800	Flanking Active TSS	Dnd41	blood
8	chr14:81444000-81447800	Weak transcription	Aorta	Aorta
9	chr14:81444000-81447800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:81444400-81445000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:81444400-81445000	Flanking Active TSS	Fetal Thymus	thymus
12	chr14:81444400-81445400	Enhancers	Brain Germinal Matrix	brain
13	chr14:81444600-81445400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:81444600-81445600	Enhancers	Primary T cells from cord blood	blood
15	chr14:81444800-81445200	Enhancers	Brain Anterior Caudate	brain
16	chr14:81444800-81447800	Weak transcription	Placenta	Placenta
17	chr14:81444800-81447800	Weak transcription	Psoas Muscle	Psoas

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