Variant report

Variant	rs9944174
Chromosome Location	chr16:74551476-74551477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10519208	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11070681	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11632520	0.92[ASN][1000 genomes]
rs11632976	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11637601	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12101442	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12101599	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12438357	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12898709	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12917024	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2413930	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28505357	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28575845	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28790333	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4468544	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7497114	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9920070	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948443	chr16:73994997-74627711	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1065964	chr16:74088091-74575604	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
4	esv2758431	chr16:74334780-74587185	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2758656	chr16:74334780-74587185	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv428806	chr16:74394226-74580125	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv833278	chr16:74415944-74584123	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
9	nsv1060629	chr16:74483574-74660669	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv1062517	chr16:74483574-74710623	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv833279	chr16:74490746-74663073	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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 target site	20 gene(s)	inside rSNPs	diseases
12	nsv978169	chr16:74507776-74560104	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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 target site	123 gene(s)	inside rSNPs	diseases
14	nsv906905	chr16:74527618-74679244	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74525200-74565200	Weak transcription	Fetal Brain Male	brain
2	chr16:74525400-74561000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr16:74525400-74572200	Weak transcription	HUVEC	blood vessel
4	chr16:74527200-74555600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:74527400-74554600	Weak transcription	HSMMtube	muscle
6	chr16:74528400-74555800	Weak transcription	Small Intestine	intestine
7	chr16:74530800-74558600	Weak transcription	Fetal Lung	lung
8	chr16:74535800-74557800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr16:74536000-74558600	Weak transcription	Dnd41	blood
10	chr16:74536000-74563800	Weak transcription	Fetal Kidney	kidney
11	chr16:74536200-74555400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr16:74536200-74555800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr16:74536200-74556200	Weak transcription	Aorta	Aorta
14	chr16:74537400-74567000	Weak transcription	Colon Smooth Muscle	Colon
15	chr16:74537600-74555000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:74537600-74559200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr16:74537600-74565200	Weak transcription	Colonic Mucosa	Colon
18	chr16:74537600-74568600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr16:74537600-74579800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr16:74537600-74604800	Weak transcription	Thymus	Thymus
21	chr16:74537800-74568800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr16:74538000-74567000	Weak transcription	HMEC	breast
23	chr16:74538200-74560600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:74538600-74556000	Weak transcription	Fetal Stomach	stomach
25	chr16:74538600-74557200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr16:74538600-74558400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr16:74538600-74558800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr16:74538800-74566000	Weak transcription	NHEK	skin
29	chr16:74539000-74555200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr16:74539000-74558000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr16:74539000-74564000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr16:74539200-74554600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:74539200-74558200	Weak transcription	GM12878-XiMat	blood
34	chr16:74539200-74562400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr16:74539200-74578200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr16:74539200-74581600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr16:74539400-74554000	Weak transcription	Placenta	Placenta
38	chr16:74539800-74557800	Weak transcription	Fetal Intestine Small	intestine
39	chr16:74539800-74565200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr16:74540000-74579800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr16:74540800-74566400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr16:74541000-74558600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr16:74541200-74558200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr16:74541400-74555400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:74541600-74558600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr16:74541800-74555200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:74542600-74554000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr16:74542600-74555000	Weak transcription	Left Ventricle	heart
49	chr16:74542600-74557800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr16:74542600-74557800	Weak transcription	Fetal Muscle Trunk	muscle

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