Variant report

Variant	rs11862343
Chromosome Location	chr16:81548925-81548926
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81548752..81553118-chr16:81553470..81556973,6	K562	blood:
2	chr16:81548835..81551828-chr16:81553933..81555713,2	MCF-7	breast:
3	chr16:81515452..81518298-chr16:81547120..81549781,2	MCF-7	breast:
4	chr16:81486409..81487978-chr16:81548913..81551529,2	K562	blood:
5	chr16:81547505..81549676-chr16:81576353..81579232,2	MCF-7	breast:
6	chr16:81477284..81479260-chr16:81547763..81549625,2	MCF-7	breast:
7	chr16:81523253..81525338-chr16:81546964..81549202,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11861290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11861411	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11861470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11865332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11865841	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17674645	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17742269	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17777059	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3803655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55683214	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56147704	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62043959	0.88[ASN][1000 genomes]
rs62046565	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62046579	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62046584	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62046586	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62046587	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62046588	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827197	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827200	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs881005	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	nsv457576	chr16:81525637-81579433	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
7	nsv573360	chr16:81525637-81579433	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
8	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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81525400-81554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr16:81533800-81550000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr16:81534800-81550000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr16:81537000-81549400	Weak transcription	Fetal Brain Female	brain
5	chr16:81541400-81551400	Enhancers	HUVEC	blood vessel
6	chr16:81544200-81554400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr16:81545200-81549200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr16:81545200-81549400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:81545200-81549600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr16:81545200-81550000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:81545200-81550200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr16:81545200-81553400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr16:81545400-81553000	Weak transcription	Hela-S3	cervix
14	chr16:81545800-81549600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr16:81546600-81549000	Enhancers	Brain Cingulate Gyrus	brain
16	chr16:81546600-81549000	Enhancers	Duodenum Mucosa	Duodenum
17	chr16:81546600-81549600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr16:81546600-81550400	Enhancers	Right Atrium	heart
19	chr16:81546600-81550600	Enhancers	Placenta	Placenta
20	chr16:81546800-81549000	Enhancers	K562	blood
21	chr16:81546800-81549600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr16:81546800-81549600	Enhancers	Spleen	Spleen
23	chr16:81546800-81550400	Enhancers	Left Ventricle	heart
24	chr16:81546800-81550400	Enhancers	Lung	lung
25	chr16:81546800-81550400	Enhancers	Right Ventricle	heart
26	chr16:81546800-81550600	Enhancers	Pancreas	Pancrea
27	chr16:81547200-81549800	Genic enhancers	NHEK	skin
28	chr16:81547400-81549400	Genic enhancers	HepG2	liver
29	chr16:81547400-81550000	Weak transcription	Thymus	Thymus
30	chr16:81547400-81554000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr16:81547400-81571600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr16:81547600-81549400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr16:81547600-81549400	Enhancers	Liver	Liver
34	chr16:81547600-81549800	Weak transcription	Fetal Intestine Large	intestine
35	chr16:81547600-81550000	Weak transcription	Dnd41	blood
36	chr16:81547600-81550400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr16:81547600-81550400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr16:81547600-81551200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr16:81547600-81551200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr16:81547600-81551600	Enhancers	Adipose Nuclei	Adipose
41	chr16:81547600-81554200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr16:81547600-81554400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:81547600-81560000	Weak transcription	Colon Smooth Muscle	Colon
44	chr16:81547600-81564400	Weak transcription	Fetal Kidney	kidney
45	chr16:81547800-81550000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr16:81547800-81550200	Weak transcription	Fetal Lung	lung
47	chr16:81547800-81550400	Weak transcription	Fetal Thymus	thymus
48	chr16:81547800-81553000	Weak transcription	Brain Anterior Caudate	brain
49	chr16:81547800-81553000	Genic enhancers	A549	lung
50	chr16:81547800-81557200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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