Variant report

Variant	rs12930205
Chromosome Location	chr16:72060958-72060959
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72041408..72043979-chr16:72060026..72062037,2	MCF-7	breast:
2	chr16:72049896..72052834-chr16:72059400..72062062,3	K562	blood:

Variant related genes	Relation type
ENSG00000102967	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10048111	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10048144	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12162087	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12443622	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12446480	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12917999	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12930702	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2070937	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2081222	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2081223	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2236765	0.81[ASN][1000 genomes]
rs2287998	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2287999	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2288000	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2288001	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2288002	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs251033	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2550868	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2550869	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2550870	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2550876	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3890860	0.83[ASN][1000 genomes]
rs4788458	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56139130	0.81[ASN][1000 genomes]
rs6499557	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7185840	0.83[ASN][1000 genomes]
rs7188962	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7189115	0.81[ASN][1000 genomes]
rs7189591	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7190994	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7199261	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7200854	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7201643	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7201866	0.84[ASN][1000 genomes]
rs7202268	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7203426	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7203821	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7350838	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8053907	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8182213	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9924964	0.84[ASN][1000 genomes]
rs9932951	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9938382	0.85[AMR][1000 genomes];0.87[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	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72043000-72063000	Weak transcription	Small Intestine	intestine
2	chr16:72043200-72061200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr16:72043200-72062800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr16:72043200-72069800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:72043200-72069800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr16:72043600-72075200	Weak transcription	Fetal Brain Male	brain
7	chr16:72045600-72062200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr16:72045600-72062400	Strong transcription	Dnd41	blood
9	chr16:72045800-72064200	Strong transcription	Fetal Stomach	stomach
10	chr16:72046000-72064000	Strong transcription	Primary T cells from cord blood	blood
11	chr16:72046400-72062200	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr16:72047800-72062000	Strong transcription	Thymus	Thymus
13	chr16:72047800-72062200	Strong transcription	Stomach Smooth Muscle	stomach
14	chr16:72048000-72063000	Weak transcription	NH-A	brain
15	chr16:72048600-72063800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr16:72049200-72062000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr16:72049600-72062600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr16:72050600-72062600	Strong transcription	Fetal Muscle Leg	muscle
19	chr16:72051000-72062600	Strong transcription	Left Ventricle	heart
20	chr16:72051400-72061000	Weak transcription	HMEC	breast
21	chr16:72051400-72063800	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr16:72051400-72078600	Weak transcription	Fetal Kidney	kidney
23	chr16:72052800-72065200	Genic enhancers	Liver	Liver
24	chr16:72054400-72061600	Strong transcription	Fetal Intestine Small	intestine
25	chr16:72054400-72062400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr16:72054400-72064000	Strong transcription	Right Ventricle	heart
27	chr16:72054800-72062400	Strong transcription	Spleen	Spleen
28	chr16:72054800-72062600	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr16:72055400-72064400	Weak transcription	Psoas Muscle	Psoas
30	chr16:72056400-72061800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr16:72056400-72065600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr16:72057200-72064000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:72057800-72061400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr16:72058200-72061400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr16:72058200-72061400	Weak transcription	NHDF-Ad	bronchial
36	chr16:72058200-72063200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr16:72058200-72064200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr16:72058200-72065800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr16:72058200-72069800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:72058200-72072200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr16:72058200-72076000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr16:72058200-72076000	Weak transcription	HSMMtube	muscle
43	chr16:72058200-72077000	Weak transcription	Colonic Mucosa	Colon
44	chr16:72058200-72078000	Weak transcription	Fetal Lung	lung
45	chr16:72058400-72065000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr16:72058600-72061000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr16:72058600-72069800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr16:72059400-72065800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr16:72059400-72069600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr16:72059600-72061400	Weak transcription	Hela-S3	cervix

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