Variant report

Variant	rs35958849
Chromosome Location	chr16:81110486-81110487
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:314)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr16:81110003-81111334	MCF-7	breast:	n/a	n/a
2	ZNF143	chr16:81110137-81111196	K562	blood:	n/a	n/a
3	MAX	chr16:81110108-81111241	A549	lung:	n/a	chr16:81110826-81110835
4	SIX5	chr16:81110283-81111020	A549	lung:	n/a	n/a
5	MXI1	chr16:81110201-81111168	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr16:81109970-81111207	ECC-1	luminal epithelium:	n/a	chr16:81110826-81110835
7	POLR2A	chr16:81110051-81111492	Hela-S3	cervix:	n/a	n/a
8	MAX	chr16:81110012-81111238	SK-N-SH	brain:	n/a	chr16:81110826-81110835
9	MAX	chr16:81110103-81111261	HepG2	liver:	n/a	chr16:81110826-81110835
10	RAD21	chr16:81110372-81110670	H1-hESC	embryonic stem cell:	n/a	n/a
11	TAF1	chr16:81110150-81111422	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr16:81110289-81111049	GM12878	blood:	n/a	chr16:81110870-81110881
13	ELF1	chr16:81110152-81111312	K562	blood:	n/a	n/a
14	MAX	chr16:81110063-81111091	H1-hESC	embryonic stem cell:	n/a	chr16:81110826-81110835
15	RCOR1	chr16:81110032-81111089	K562	blood:	n/a	n/a
16	POLR2A	chr16:81110236-81111530	ProgFib	skin:	n/a	n/a
17	GABPA	chr16:81110212-81111390	A549	lung:	n/a	n/a
18	SREBP1	chr16:81110281-81111147	HepG2	liver:	n/a	n/a
19	GABPA	chr16:81110151-81111300	K562	blood:	n/a	n/a
20	JUND	chr16:81110219-81111167	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr16:81110124-81111815	IMR90	lung:	n/a	n/a
22	SMC3	chr16:81110117-81110538	HepG2	liver:	n/a	n/a
23	POLR2A	chr16:81110158-81111425	GM12878	blood:	n/a	n/a
24	RELA	chr16:81110063-81111175	GM15510	blood:	n/a	n/a
25	GABPA	chr16:81110331-81111142	H1-hESC	embryonic stem cell:	n/a	n/a
26	SIN3AK20	chr16:81110107-81111076	HepG2	liver:	n/a	n/a
27	SIN3AK20	chr16:81110409-81111199	PANC-1	pancreas:	n/a	n/a
28	POLR2A	chr16:81110178-81111387	GM19099	blood:	n/a	n/a
29	MAZ	chr16:81110103-81111286	K562	blood:	n/a	chr16:81110826-81110835
30	POLR2A	chr16:81110063-81111352	HCT-116	colon:	n/a	n/a
31	ZBTB7A	chr16:81110396-81111188	K562	blood:	n/a	n/a
32	ATF2	chr16:81110173-81111048	GM12878	blood:	n/a	chr16:81110870-81110881
33	MXI1	chr16:81110117-81111280	GM12878	blood:	n/a	n/a
34	POLR2A	chr16:81110157-81111586	K562	blood:	n/a	n/a
35	POLR2A	chr16:81110064-81111496	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr16:81109971-81111422	SK-N-MC	brain:	n/a	n/a
37	YY1	chr16:81110383-81110838	GM12892	blood:	n/a	chr16:81110718-81110730
38	CREB1	chr16:81110120-81111289	H1-hESC	embryonic stem cell:	n/a	n/a
39	RELA	chr16:81110142-81111078	GM18951	blood:	n/a	n/a
40	MYC	chr16:81110019-81111263	K562	blood:	n/a	chr16:81110826-81110835
41	ZMIZ1	chr16:81110306-81111296	K562	blood:	n/a	n/a
42	E2F6	chr16:81109998-81110585	H1-hESC	embryonic stem cell:	n/a	n/a
43	USF2	chr16:81110178-81110947	GM12878	blood:	n/a	chr16:81110852-81110868
44	REST	chr16:81110335-81110577	A549	lung:	n/a	n/a
45	SP4	chr16:81110165-81110707	H1-hESC	embryonic stem cell:	n/a	chr16:81110324-81110340 chr16:81110326-81110342 chr16:81110343-81110359
46	FOSL2	chr16:81110244-81110766	A549	lung:	n/a	n/a
47	MAFK	chr16:81110149-81110893	HepG2	liver:	n/a	n/a
48	GABPA	chr16:81110176-81111345	K562	blood:	n/a	n/a
49	ELF1	chr16:81110103-81111245	GM12878	blood:	n/a	n/a
50	KAP1	chr16:81110056-81111275	HEK293	kidney:	n/a	n/a

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81068976..81069841-chr16:81110418..81110934,2	MCF-7	breast:
2	chr16:81109459..81113813-chr16:81119137..81125158,9	MCF-7	breast:
3	chr16:81067728..81071580-chr16:81109086..81113987,13	K562	blood:
4	chr16:81109242..81112738-chr16:81125910..81131139,12	MCF-7	breast:
5	chr16:81096522..81104265-chr16:81107324..81112531,10	MCF-7	breast:
6	chr16:81039722..81044457-chr16:81106699..81112118,5	MCF-7	breast:
7	chr16:81102378..81105736-chr16:81109275..81112562,6	K562	blood:
8	chr16:81109518..81111024-chr16:81347327..81349963,2	K562	blood:
9	chr16:81110094..81110965-chr7:95063901..95064577,2	Hela-S3	cervix:
10	chr16:81038376..81043277-chr16:81108432..81112403,6	K562	blood:
11	chr16:81110384..81110935-chr16:81169785..81170782,2	MCF-7	breast:
12	chr16:81110380..81111256-chr16:88717091..88717642,2	Hela-S3	cervix:
13	chr16:81038376..81042418-chr16:81108432..81111584,4	K562	blood:
14	chr16:81109109..81111856-chr16:81126620..81130593,5	MCF-7	breast:
15	chr16:81110316..81112473-chr16:81346981..81348533,2	MCF-7	breast:
16	chr16:81068163..81070898-chr16:81108747..81112001,7	MCF-7	breast:
17	chr16:81067878..81071089-chr16:81109086..81112093,6	K562	blood:
18	chr16:81109214..81111850-chr16:81221258..81223565,2	MCF-7	breast:
19	chr16:81102378..81105736-chr16:81109334..81111887,5	K562	blood:
20	chr16:81039624..81041255-chr16:81107979..81110813,2	MCF-7	breast:
21	chr16:81109389..81113385-chr16:81129533..81131576,3	K562	blood:
22	chr16:81104152..81107798-chr16:81108570..81111013,4	MCF-7	breast:
23	chr16:81108969..81114076-chr16:81128464..81132360,7	K562	blood:
24	chr16:81067084..81072191-chr16:81106033..81112629,21	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000245059	TF binding region
ENSG00000260643	Chromatin interaction
ENSG00000140905	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000261609	Chromatin interaction
ENSG00000166473	Chromatin interaction
ENSG00000260495	Chromatin interaction
ENSG00000051523	Chromatin interaction
ENSG00000261838	Chromatin interaction
ENSG00000105854	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000166451	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11859279	1.00[AMR][1000 genomes]
rs11859373	1.00[AMR][1000 genomes]
rs11862612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11863599	1.00[AMR][1000 genomes]
rs34939440	1.00[AMR][1000 genomes]
rs35557730	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS 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	56 gene(s)	inside rSNPs	diseases
6	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription 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	49 gene(s)	inside rSNPs	diseases
7	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr16:81109800-81111000	Active TSS	Stomach Smooth Muscle	stomach
2	chr16:81109800-81111200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:81109800-81111200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr16:81109800-81111200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr16:81109800-81111200	Active TSS	Brain Anterior Caudate	brain
6	chr16:81109800-81111200	Active TSS	Colon Smooth Muscle	Colon
7	chr16:81109800-81111400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr16:81109800-81111400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr16:81109800-81111400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr16:81109800-81111400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:81109800-81111400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr16:81109800-81111400	Active TSS	Fetal Brain Female	brain
13	chr16:81109800-81111400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr16:81109800-81111600	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr16:81109800-81111600	Active TSS	Brain Angular Gyrus	brain
16	chr16:81109800-81111800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr16:81109800-81112000	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr16:81110000-81110800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr16:81110000-81111000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:81110000-81111000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr16:81110000-81111000	Active TSS	Fetal Muscle Trunk	muscle
22	chr16:81110000-81111000	Active TSS	HSMMtube	muscle
23	chr16:81110000-81111200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr16:81110000-81111200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr16:81110000-81111200	Active TSS	Liver	Liver
26	chr16:81110000-81111200	Active TSS	Brain Substantia Nigra	brain
27	chr16:81110000-81111200	Active TSS	Duodenum Mucosa	Duodenum
28	chr16:81110000-81111200	Active TSS	Fetal Brain Male	brain
29	chr16:81110000-81111200	Active TSS	Fetal Lung	lung
30	chr16:81110000-81111200	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr16:81110000-81111200	Active TSS	NHLF	lung
32	chr16:81110000-81111200	Active TSS	Osteobl	bone
33	chr16:81110000-81111400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:81110000-81111400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr16:81110000-81111400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:81110000-81111400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr16:81110000-81111400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:81110000-81111400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:81110000-81111400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr16:81110000-81111400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr16:81110000-81111400	Active TSS	Aorta	Aorta
42	chr16:81110000-81111400	Active TSS	Brain Germinal Matrix	brain
43	chr16:81110000-81111400	Active TSS	Fetal Intestine Small	intestine
44	chr16:81110000-81111400	Active TSS	Psoas Muscle	Psoas
45	chr16:81110000-81111400	Active TSS	Rectal Smooth Muscle	rectum
46	chr16:81110000-81111400	Active TSS	Right Ventricle	heart
47	chr16:81110000-81111400	Active TSS	NHDF-Ad	bronchial
48	chr16:81110000-81111600	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr16:81110000-81111600	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr16:81110000-81111600	Active TSS	iPS-15b Cell Line	embryonic stem cell

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