Variant report

Variant	rs60107344
Chromosome Location	chr16:81724802-81724803
allele	C/T
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	POLR2A	chr16:81724768-81724861	K562	blood:	n/a	n/a

Variant related genes	Relation type
CMIP	TF binding region

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11150400	0.94[ASN][1000 genomes]
rs11641014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11644382	0.80[ASN][1000 genomes]
rs11644560	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11646472	0.97[ASN][1000 genomes]
rs2317497	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2873480	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3751857	0.92[ASN][1000 genomes]
rs4281702	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4421970	0.94[ASN][1000 genomes]
rs4423411	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4888165	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4888167	0.92[ASN][1000 genomes]
rs4889363	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4889364	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4889365	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4889366	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55669104	0.94[ASN][1000 genomes]
rs56303631	0.83[AMR][1000 genomes]
rs57869567	0.81[ASN][1000 genomes]
rs67084911	0.83[ASN][1000 genomes]
rs68056614	0.97[ASN][1000 genomes]
rs74031237	0.95[ASN][1000 genomes]
rs74031241	0.95[ASN][1000 genomes]
rs753108	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8055386	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv907011	chr16:81639190-81757252	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81686600-81725000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:81688400-81736800	Weak transcription	NHDF-Ad	bronchial
3	chr16:81699200-81725600	Weak transcription	Osteobl	bone
4	chr16:81699400-81726000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr16:81701000-81725200	Weak transcription	Aorta	Aorta
6	chr16:81706600-81725200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr16:81713200-81725200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:81713200-81726000	Weak transcription	Fetal Brain Male	brain
9	chr16:81713200-81726200	Weak transcription	Small Intestine	intestine
10	chr16:81713200-81727200	Weak transcription	NHLF	lung
11	chr16:81713200-81740600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr16:81713200-81744400	Weak transcription	Fetal Kidney	kidney
13	chr16:81713400-81725600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr16:81713400-81726600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr16:81713800-81725600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr16:81713800-81725800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr16:81714200-81725600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr16:81714600-81725000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr16:81714600-81725400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr16:81714800-81725200	Weak transcription	Left Ventricle	heart
21	chr16:81714800-81725400	Weak transcription	Brain Hippocampus Middle	brain
22	chr16:81714800-81726400	Weak transcription	Brain Substantia Nigra	brain
23	chr16:81715200-81725400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr16:81715200-81725400	Weak transcription	Colon Smooth Muscle	Colon
25	chr16:81715200-81726800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr16:81715400-81725200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr16:81715400-81725400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr16:81715400-81725600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr16:81715400-81725800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr16:81715400-81726200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:81715400-81726400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr16:81715800-81725400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr16:81717000-81725400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr16:81720400-81725000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:81720400-81725400	Weak transcription	Ovary	ovary
36	chr16:81720800-81725200	Weak transcription	Brain Germinal Matrix	brain
37	chr16:81720800-81725200	Weak transcription	Pancreas	Pancrea
38	chr16:81721000-81725000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr16:81721600-81727000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr16:81721800-81725000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr16:81721800-81725400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr16:81721800-81726400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr16:81721800-81748400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr16:81722000-81725000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr16:81722000-81725000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr16:81722000-81725200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr16:81722000-81725200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr16:81722000-81725400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr16:81722000-81725400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr16:81722000-81725400	Weak transcription	Right Ventricle	heart

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