Variant report

Variant	rs12924701
Chromosome Location	chr16:81607756-81607757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81602506..81605471-chr16:81607457..81609073,2	K562	blood:
2	chr16:81607192..81611602-chr16:81637708..81641189,4	MCF-7	breast:
3	chr16:81599256..81602188-chr16:81606327..81608500,2	MCF-7	breast:
4	chr16:81606753..81608792-chr16:81731743..81734236,2	MCF-7	breast:
5	chr16:81602634..81605385-chr16:81607710..81610701,3	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11640346	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11642655	0.89[EUR][1000 genomes]
rs11644375	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11648151	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11649004	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12918645	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12923364	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12925388	0.90[EUR][1000 genomes]
rs12926649	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12929303	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12930698	0.89[EUR][1000 genomes]
rs12930850	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12931242	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12934751	0.90[EUR][1000 genomes]
rs4483835	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4889341	0.82[EUR][1000 genomes]
rs6564890	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7189295	0.92[EUR][1000 genomes]
rs7196195	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7196548	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7198940	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7199293	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8045100	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8045875	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9937613	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1062659	chr16:81547280-81668786	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1898	chr16:81581637-81626505	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv573361	chr16:81591496-81610722	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv524589	chr16:81592934-81609298	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv573362	chr16:81592934-81609298	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81581600-81608400	Weak transcription	Primary B cells from cord blood	blood
2	chr16:81585600-81628600	Weak transcription	GM12878-XiMat	blood
3	chr16:81588200-81640800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr16:81593200-81619400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:81593200-81621000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr16:81593200-81622400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr16:81593200-81641200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr16:81593400-81619200	Weak transcription	K562	blood
9	chr16:81598200-81609200	Weak transcription	Brain Angular Gyrus	brain
10	chr16:81598600-81609200	Genic enhancers	HepG2	liver
11	chr16:81599000-81608600	Genic enhancers	Fetal Intestine Small	intestine
12	chr16:81599000-81633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:81599200-81614600	Weak transcription	Fetal Kidney	kidney
14	chr16:81600400-81616200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr16:81601000-81610000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr16:81601000-81616200	Weak transcription	Primary T cells from cord blood	blood
17	chr16:81602000-81615600	Weak transcription	Thymus	Thymus
18	chr16:81602200-81607800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr16:81602200-81615000	Weak transcription	Small Intestine	intestine
20	chr16:81602200-81616000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:81602200-81617800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr16:81602400-81611400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:81602600-81607800	Weak transcription	Brain Substantia Nigra	brain
24	chr16:81602600-81609600	Genic enhancers	A549	lung
25	chr16:81602600-81615400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr16:81602600-81616000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr16:81602600-81616400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr16:81602600-81619200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr16:81602800-81607800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr16:81602800-81616000	Weak transcription	HSMM	muscle
31	chr16:81603000-81608200	Weak transcription	Brain Hippocampus Middle	brain
32	chr16:81603200-81607800	Weak transcription	Right Atrium	heart
33	chr16:81603200-81617200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr16:81603400-81616600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:81603800-81607800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr16:81604000-81607800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr16:81604000-81608800	Weak transcription	Stomach Mucosa	stomach
38	chr16:81604000-81616200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr16:81604200-81608400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr16:81604200-81608400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr16:81604200-81608600	Weak transcription	Placenta	Placenta
42	chr16:81604200-81612200	Weak transcription	Right Ventricle	heart
43	chr16:81604200-81616200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr16:81604200-81619200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr16:81604400-81613600	Weak transcription	NHEK	skin
46	chr16:81604400-81616400	Weak transcription	Left Ventricle	heart
47	chr16:81604600-81608400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr16:81604600-81609000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr16:81604600-81613600	Weak transcription	HMEC	breast
50	chr16:81604600-81616600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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