Variant report

Variant	rs1471379
Chromosome Location	chr16:81510699-81510700
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	RUNX3	chr16:81510661-81510993	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:81509108-81510770	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81477412..81480094-chr16:81509013..81511595,4	MCF-7	breast:
2	chr16:81510328..81512312-chr16:81524530..81527083,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260229	TF binding region
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1471152	0.88[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1471378	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1966957	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2125202	0.94[CHD][hapmap]
rs2926000	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2927324	0.92[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2927325	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2927327	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2966079	1.00[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.80[MKK][hapmap];0.82[TSI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2966080	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2966082	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2966083	0.92[ASN][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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv907010	chr16:81488893-81534790	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv573359	chr16:81509279-81525637	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv518910	chr16:81509293-81510742	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv522140	chr16:81509293-81510742	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81485600-81516800	Weak transcription	Hela-S3	cervix
2	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr16:81492200-81512200	Genic enhancers	A549	lung
4	chr16:81496800-81514400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr16:81497600-81514600	Weak transcription	HSMM	muscle
6	chr16:81501800-81514400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:81501800-81515200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:81503000-81516600	Weak transcription	Brain Germinal Matrix	brain
9	chr16:81503800-81511200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr16:81504000-81511600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:81504000-81517800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr16:81504200-81513400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr16:81504200-81518200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:81504400-81514600	Strong transcription	NHEK	skin
15	chr16:81505200-81511800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr16:81505200-81525600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr16:81505400-81521800	Weak transcription	Fetal Kidney	kidney
18	chr16:81505600-81512800	Strong transcription	Dnd41	blood
19	chr16:81505800-81514200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr16:81505800-81515000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr16:81505800-81523600	Weak transcription	Fetal Brain Male	brain
22	chr16:81506000-81546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:81506200-81512000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr16:81506600-81547000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr16:81506800-81511000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr16:81506800-81511000	Enhancers	Primary B cells from cord blood	blood
27	chr16:81506800-81513600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr16:81506800-81517600	Weak transcription	HMEC	breast
29	chr16:81507000-81511000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr16:81507000-81511600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:81507000-81512400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr16:81507000-81514800	Weak transcription	Brain Angular Gyrus	brain
33	chr16:81507400-81514400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr16:81507600-81516400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr16:81507600-81518400	Enhancers	Spleen	Spleen
36	chr16:81507800-81511800	Weak transcription	Colon Smooth Muscle	Colon
37	chr16:81507800-81512200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr16:81507800-81516400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr16:81507800-81519400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr16:81508000-81511200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr16:81508000-81511200	Weak transcription	Colonic Mucosa	Colon
42	chr16:81508000-81512600	Weak transcription	Osteobl	bone
43	chr16:81508000-81514400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:81508000-81514400	Weak transcription	NHLF	lung
45	chr16:81508000-81514600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:81508000-81516400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr16:81508000-81518000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:81508200-81511000	Weak transcription	Brain Anterior Caudate	brain
49	chr16:81508200-81511000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr16:81508200-81511000	Weak transcription	Gastric	stomach

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