Variant report

Variant	rs74027420
Chromosome Location	chr16:75604887-75604888
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	FOXM1	chr16:75603971-75605002	GM12878	blood:	n/a	n/a
2	STAT3	chr16:75604719-75605092	GM12878	blood:	n/a	n/a
3	RUNX3	chr16:75603852-75605039	GM12878	blood:	n/a	n/a
4	NFATC1	chr16:75603909-75604933	GM12878	blood:	n/a	n/a
5	TBP	chr16:75604437-75605132	GM12878	blood:	n/a	n/a
6	ZNF384	chr16:75604666-75604939	GM12878	blood:	n/a	n/a
7	EP300	chr16:75604487-75605089	GM12878	blood:	n/a	chr16:75604657-75604671 chr16:75604505-75604518 chr16:75604888-75604898
8	EBF1	chr16:75604666-75604969	GM12878	blood:	n/a	n/a
9	SPI1	chr16:75604613-75604894	GM12891	blood:	n/a	n/a
10	SPI1	chr16:75604627-75604925	GM12878	blood:	n/a	n/a
11	EP300	chr16:75604435-75604954	GM12878	blood:	n/a	chr16:75604657-75604671 chr16:75604505-75604518 chr16:75604888-75604898
12	POLR2A	chr16:75604369-75605389	GM12878	blood:	n/a	n/a
13	SPI1	chr16:75604674-75604935	GM12891	blood:	n/a	n/a
14	MEF2A	chr16:75604398-75604988	GM12878	blood:	n/a	chr16:75604608-75604624 chr16:75604607-75604623 chr16:75604922-75604943 chr16:75604926-75604941 chr16:75604611-75604620 chr16:75604608-75604623 chr16:75604604-75604625 chr16:75604606-75604627 chr16:75604604-75604625 chr16:75604951-75604968 chr16:75604610-75604621 chr16:75604927-75604941 chr16:75604604-75604625 chr16:75604609-75604623
15	ATF2	chr16:75604566-75604997	GM12878	blood:	n/a	n/a
16	ATF2	chr16:75603944-75605078	GM12878	blood:	n/a	n/a
17	NFIC	chr16:75603938-75604909	GM12878	blood:	n/a	n/a
18	PML	chr16:75603894-75605112	GM12878	blood:	n/a	n/a
19	MTA3	chr16:75603911-75604937	GM12878	blood:	n/a	n/a
20	CEBPB	chr16:75604012-75604963	GM12878	blood:	n/a	chr16:75604212-75604225
21	MXI1	chr16:75604656-75604993	GM12878	blood:	n/a	n/a
22	MEF2A	chr16:75603923-75605029	GM12878	blood:	n/a	chr16:75604608-75604624 chr16:75604607-75604623 chr16:75604922-75604943 chr16:75604926-75604941 chr16:75604611-75604620 chr16:75604608-75604623 chr16:75604604-75604625 chr16:75604606-75604627 chr16:75604604-75604625 chr16:75604951-75604968 chr16:75604610-75604621 chr16:75604927-75604941 chr16:75604604-75604625 chr16:75604609-75604623
23	CREB1	chr16:75604632-75605110	GM12878	blood:	n/a	n/a
24	NFIC	chr16:75603878-75605044	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75598960..75602885-chr16:75604556..75608989,5	K562	blood:
2	chr16:75603870..75606248-chr16:75614427..75616715,2	K562	blood:
3	chr16:75588622..75597419-chr16:75598326..75606239,14	K562	blood:
4	chr16:75602490..75605127-chr16:75610051..75611966,2	MCF-7	breast:
5	chr16:75602536..75605291-chr16:75611992..75614146,2	MCF-7	breast:

Variant related genes	Relation type
GABARAPL2	TF binding region
ENSG00000205084	Chromatin interaction
ENSG00000034713	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11556641	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16940260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940961	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16941287	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16941301	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16941409	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16941516	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16942032	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2164246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550320	1.00[AMR][1000 genomes]
rs2550889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2550897	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550900	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550902	0.86[EUR][1000 genomes]
rs2550903	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550905	0.80[EUR][1000 genomes]
rs2550906	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550907	0.86[EUR][1000 genomes]
rs2550914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2550915	1.00[EUR][1000 genomes]
rs2641803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2641807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2650406	0.86[EUR][1000 genomes]
rs2650410	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2650411	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2738800	1.00[AMR][1000 genomes]
rs55714466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55862257	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56030666	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56321575	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60919196	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7194333	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72563121	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73610805	0.86[EUR][1000 genomes]
rs74024796	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027409	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74027421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74027424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74027432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74027433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74027436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027439	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027441	1.00[EUR][1000 genomes]
rs74027443	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8192515	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs920037	1.00[AMR][1000 genomes];0.86[EUR][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	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
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
6	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75601200-75606000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:75601200-75606200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:75601200-75608600	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr16:75601200-75624400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:75601400-75605400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
6	chr16:75601400-75605800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
7	chr16:75601400-75607200	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr16:75601400-75610200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr16:75601600-75605000	Strong transcription	Fetal Thymus	thymus
10	chr16:75601600-75605200	Genic enhancers	Stomach Smooth Muscle	stomach
11	chr16:75601600-75605400	Genic enhancers	Colon Smooth Muscle	Colon
12	chr16:75601600-75605600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
13	chr16:75601600-75608800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr16:75601600-75609600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr16:75601600-75613400	Strong transcription	NH-A	brain
16	chr16:75601600-75613800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:75601600-75613800	Strong transcription	A549	lung
18	chr16:75601600-75614400	Genic enhancers	Brain Anterior Caudate	brain
19	chr16:75601600-75615200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr16:75601600-75615400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:75601800-75605200	Genic enhancers	Primary B cells from cord blood	blood
22	chr16:75601800-75605200	Genic enhancers	Lung	lung
23	chr16:75601800-75605400	Genic enhancers	Brain Angular Gyrus	brain
24	chr16:75601800-75605400	Genic enhancers	Brain Substantia Nigra	brain
25	chr16:75601800-75608400	Genic enhancers	Left Ventricle	heart
26	chr16:75601800-75608400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
27	chr16:75601800-75608400	Strong transcription	Hela-S3	cervix
28	chr16:75601800-75608400	Strong transcription	NHDF-Ad	bronchial
29	chr16:75601800-75608800	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr16:75601800-75608800	Genic enhancers	Brain Hippocampus Middle	brain
31	chr16:75601800-75608800	Strong transcription	HUVEC	blood vessel
32	chr16:75601800-75609000	Strong transcription	NHEK	skin
33	chr16:75601800-75609400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr16:75601800-75609800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr16:75601800-75609800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr16:75601800-75612000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr16:75601800-75612800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr16:75601800-75614400	Strong transcription	Thymus	Thymus
39	chr16:75601800-75615400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:75602000-75605000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr16:75602000-75605600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
42	chr16:75602000-75606200	Strong transcription	Ovary	ovary
43	chr16:75602000-75609200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:75602000-75612400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:75602000-75612800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:75602000-75613200	Strong transcription	HepG2	liver
47	chr16:75602000-75613200	Strong transcription	NHLF	lung
48	chr16:75602000-75613600	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr16:75602000-75614000	Strong transcription	Fetal Lung	lung
50	chr16:75602000-75614200	Strong transcription	Sigmoid Colon	Sigmoid Colon

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