Variant report

Variant	rs11149777
Chromosome Location	chr16:74926947-74926948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10514386	0.94[EUR][1000 genomes]
rs10514387	1.00[CHB][hapmap];0.88[CHD][hapmap];0.93[ASN][1000 genomes]
rs10514388	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10514389	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11149776	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11864349	0.86[CEU][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11865599	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11866550	0.83[EUR][1000 genomes]
rs2081252	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4887788	0.83[EUR][1000 genomes]
rs4888307	0.89[EUR][1000 genomes]
rs61333776	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72798621	0.82[EUR][1000 genomes]
rs72798622	0.89[EUR][1000 genomes]
rs72798623	0.89[EUR][1000 genomes]
rs7342703	1.00[JPT][hapmap]
rs7342788	0.93[ASN][1000 genomes]
rs7342799	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
4	nsv1058900	chr16:74753819-75005050	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv542958	chr16:74753819-75005050	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv431516	chr16:74840166-75099566	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
9	nsv833280	chr16:74855811-75077227	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1059764	chr16:74868327-74989488	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1064546	chr16:74868795-74989488	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv572977	chr16:74873513-74954897	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv526213	chr16:74873513-74990061	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv572978	chr16:74873574-74990004	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1063842	chr16:74896749-74990601	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv542959	chr16:74896749-74990601	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11149777	TERF2IP	cis	parietal	SCAN
rs11149777	ADAT1	cis	parietal	SCAN
rs11149777	CHST4	cis	parietal	SCAN
rs11149777	ADAT1	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74903200-74927800	Strong transcription	Fetal Stomach	stomach
2	chr16:74904800-74944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:74905200-74938000	Strong transcription	HepG2	liver
4	chr16:74905400-74931000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:74905400-74938200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr16:74905400-74950800	Strong transcription	Liver	Liver
7	chr16:74905600-74928600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:74905600-74938800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:74905800-74928000	Strong transcription	Dnd41	blood
10	chr16:74906200-74993200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr16:74907200-74938200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr16:74909200-74928200	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr16:74909600-74928000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:74910400-74934000	Strong transcription	Fetal Intestine Large	intestine
15	chr16:74911600-74938200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr16:74912400-74928600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr16:74912600-74936000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr16:74912800-74932400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr16:74912800-74934600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr16:74913400-74946000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:74914000-74927800	Strong transcription	Thymus	Thymus
22	chr16:74914400-74927800	Strong transcription	Fetal Lung	lung
23	chr16:74914400-74928000	Strong transcription	Fetal Brain Female	brain
24	chr16:74914400-74929800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:74914400-74933600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr16:74914400-74938600	Strong transcription	Adipose Nuclei	Adipose
27	chr16:74914600-74930800	Strong transcription	Primary B cells from cord blood	blood
28	chr16:74914600-74930800	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr16:74915000-74933200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr16:74915800-74929000	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr16:74915800-74934000	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr16:74916400-74927600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:74917000-74927800	Strong transcription	Left Ventricle	heart
34	chr16:74917000-74928000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr16:74917000-74938000	Strong transcription	Primary T cells from cord blood	blood
36	chr16:74917200-74927200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr16:74917200-74927800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr16:74917200-74928000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr16:74917200-74930200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr16:74917400-74927800	Strong transcription	Colon Smooth Muscle	Colon
41	chr16:74917400-74928000	Strong transcription	Brain Hippocampus Middle	brain
42	chr16:74917400-74930200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr16:74917400-74931400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr16:74917800-74927400	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr16:74918000-74927800	Strong transcription	Brain Substantia Nigra	brain
46	chr16:74919800-74928000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:74920400-74927400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:74920800-74931800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr16:74921800-74938000	Strong transcription	Fetal Thymus	thymus
50	chr16:74922800-74927000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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