Variant report

Variant	rs3094448
Chromosome Location	chr16:71311465-71311466
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71309531..71313342-chr16:71321212..71325576,7	K562	blood:
2	chr16:71309310..71311859-chr16:71312169..71314313,2	MCF-7	breast:
3	chr16:71310012..71312355-chr16:71312947..71314691,2	K562	blood:
4	chr16:71310986..71313329-chr16:71316172..71318464,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180917	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10083751	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12925766	0.96[EUR][1000 genomes]
rs2288045	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2288047	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap]
rs3094447	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3094451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3094454	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs3094458	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3096372	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3096373	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3096375	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3096378	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3096380	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3114640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3114642	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238976	0.83[ASN][1000 genomes]
rs4558424	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8052756	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8057396	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv482374	chr16:71228600-71401617	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1860	chr16:71269156-71313852	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1062426	chr16:71307180-71423400	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71290200-71317200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr16:71299000-71317200	Weak transcription	Aorta	Aorta
3	chr16:71301000-71318400	Weak transcription	Pancreas	Pancrea
4	chr16:71306600-71322600	Weak transcription	Small Intestine	intestine
5	chr16:71307000-71316200	Weak transcription	HSMM	muscle
6	chr16:71307000-71317000	Weak transcription	NHEK	skin
7	chr16:71307800-71316800	Weak transcription	Left Ventricle	heart
8	chr16:71307800-71318600	Weak transcription	Psoas Muscle	Psoas
9	chr16:71308400-71317000	Weak transcription	Dnd41	blood
10	chr16:71309200-71317200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr16:71310400-71318800	Weak transcription	Thymus	Thymus
12	chr16:71310800-71317000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr16:71311000-71316800	Weak transcription	Primary B cells from cord blood	blood
14	chr16:71311000-71317000	Weak transcription	Primary T cells from cord blood	blood
15	chr16:71311000-71317600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr16:71311200-71317000	Weak transcription	GM12878-XiMat	blood
17	chr16:71311200-71317400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr16:71311400-71316200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:71311400-71316800	Weak transcription	K562	blood
20	chr16:71311400-71317000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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