Variant report

Variant	rs11639652
Chromosome Location	chr16:81590620-81590621
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81589280..81593699-chr16:81599147..81604604,6	MCF-7	breast:
2	chr16:81587032..81590904-chr16:81592569..81595083,4	K562	blood:
3	chr16:81588981..81591271-chr16:81595780..81598756,2	K562	blood:
4	chr16:81586015..81589398-chr16:81589613..81592514,4	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1000454	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1000455	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11639751	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11648925	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12448684	0.81[CEU][hapmap]
rs12928588	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12932885	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2168798	0.84[CEU][hapmap]
rs35610022	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6564885	0.92[CEU][hapmap];0.83[CHB][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7205651	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8054061	0.83[EUR][1000 genomes]
rs876673	0.84[CEU][hapmap]
rs9925488	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv2754804	chr16:81579729-81606569	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	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

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81570800-81594200	Weak transcription	Hela-S3	cervix
2	chr16:81573600-81594800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:81577400-81591600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:81577600-81593200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr16:81580200-81597600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr16:81581600-81608400	Weak transcription	Primary B cells from cord blood	blood
7	chr16:81583000-81591400	Genic enhancers	A549	lung
8	chr16:81585000-81592200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr16:81585200-81602000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr16:81585600-81591800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr16:81585600-81628600	Weak transcription	GM12878-XiMat	blood
12	chr16:81586000-81591800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr16:81586000-81601400	Weak transcription	Fetal Thymus	thymus
14	chr16:81586200-81591400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr16:81586400-81591600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr16:81586400-81592400	Genic enhancers	Fetal Intestine Small	intestine
17	chr16:81586800-81592200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr16:81587000-81596600	Weak transcription	Brain Angular Gyrus	brain
19	chr16:81587000-81603800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr16:81587200-81591600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr16:81587200-81592000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr16:81587400-81591800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:81587400-81591800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr16:81587400-81594200	Weak transcription	Osteobl	bone
25	chr16:81587400-81597200	Weak transcription	Fetal Brain Female	brain
26	chr16:81587600-81591600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr16:81587600-81591800	Weak transcription	Right Ventricle	heart
28	chr16:81587600-81592000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr16:81587600-81592000	Weak transcription	Brain Hippocampus Middle	brain
30	chr16:81587600-81592000	Weak transcription	Fetal Lung	lung
31	chr16:81587600-81592000	Weak transcription	Ovary	ovary
32	chr16:81587600-81592200	Weak transcription	Brain Anterior Caudate	brain
33	chr16:81587600-81592400	Weak transcription	Fetal Brain Male	brain
34	chr16:81587600-81592800	Weak transcription	Brain Substantia Nigra	brain
35	chr16:81587600-81594200	Weak transcription	NH-A	brain
36	chr16:81587600-81594600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:81587800-81591800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr16:81587800-81592200	Weak transcription	Brain Germinal Matrix	brain
39	chr16:81588000-81591600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr16:81588000-81591800	Enhancers	Stomach Mucosa	stomach
41	chr16:81588000-81592600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr16:81588000-81592600	Weak transcription	HMEC	breast
43	chr16:81588000-81601600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr16:81588200-81591200	Weak transcription	K562	blood
45	chr16:81588200-81591800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr16:81588200-81592000	Weak transcription	Colon Smooth Muscle	Colon
47	chr16:81588200-81596600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr16:81588200-81600600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr16:81588200-81640800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr16:81588400-81590800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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