Variant report

Variant	rs2602422
Chromosome Location	chr16:81039886-81039887
allele	G/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	SIN3AK20	chr16:81039662-81041881	MCF-7	breast:	n/a	n/a
2	POLR2A	chr16:81039857-81041585	MCF-7	breast:	n/a	n/a
3	ZNF263	chr16:81039878-81041322	K562	blood:	n/a	n/a
4	SIN3AK20	chr16:81039787-81041482	PANC-1	pancreas:	n/a	n/a
5	MYC	chr16:81039860-81041565	K562	blood:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
6	MYBL2	chr16:81039767-81041891	HepG2	liver:	n/a	n/a
7	UBTF	chr16:81039880-81041438	K562	blood:	n/a	n/a
8	MAX	chr16:81039886-81041471	Hela-S3	cervix:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
9	YY1	chr16:81039805-81041488	HepG2	liver:	n/a	chr16:81040203-81040214 chr16:81040518-81040532
10	CHD1	chr16:81039496-81039954	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAZ	chr16:81039856-81041414	K562	blood:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
12	SIN3AK20	chr16:81039392-81041620	MCF-7	breast:	n/a	n/a
13	POLR2A	chr16:81039856-81041840	Hela-S3	cervix:	n/a	n/a
14	MAZ	chr16:81039865-81041435	Hela-S3	cervix:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
15	ELF1	chr16:81039856-81041500	GM12878	blood:	n/a	n/a
16	TBP	chr16:81039297-81041451	Hela-S3	cervix:	n/a	n/a
17	USF1	chr16:81039826-81041608	HCT-116	colon:	n/a	chr16:81041154-81041165
18	MTA3	chr16:81039800-81041878	GM12878	blood:	n/a	n/a
19	FOXA1	chr16:81039846-81040121	T-47D	breast:	n/a	n/a
20	POLR2A	chr16:81039828-81042424	MCF10A-Er-Src	breast:	n/a	n/a
21	MAX	chr16:81039752-81041497	K562	blood:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
22	MAX	chr16:81039155-81041501	A549	lung:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
23	MYBL2	chr16:81039859-81041611	HepG2	liver:	n/a	n/a
24	YY1	chr16:81039880-81040223	HCT-116	colon:	n/a	chr16:81040203-81040214
25	POLR2A	chr16:81039785-81041461	HCT-116	colon:	n/a	n/a
26	POLR2A	chr16:81039810-81041573	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr16:81039833-81042011	GM12892	blood:	n/a	n/a
28	NR2F2	chr16:81039701-81041676	K562	blood:	n/a	n/a
29	POLR2A	chr16:81039862-81041598	U87	brain:	n/a	n/a
30	POLR2A	chr16:81039052-81041720	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr16:81039853-81041499	K562	blood:	n/a	n/a
32	TAF1	chr16:81039886-81041475	ECC-1	luminal epithelium:	n/a	n/a
33	SIN3AK20	chr16:81039858-81040579	HepG2	liver:	n/a	n/a
34	JUND	chr16:81039279-81042090	SK-N-SH	brain:	n/a	chr16:81041079-81041088
35	MXI1	chr16:81039857-81041510	HepG2	liver:	n/a	n/a
36	POLR2A	chr16:81039862-81041634	Hela-S3	cervix:	n/a	n/a
37	SIN3A	chr16:81039358-81041579	H1-hESC	embryonic stem cell:	n/a	chr16:81041064-81041077 chr16:81040175-81040188
38	SIN3AK20	chr16:81039313-81041611	HCT-116	colon:	n/a	n/a
39	EP300	chr16:81039797-81041347	A549	lung:	n/a	chr16:81039810-81039824 chr16:81040172-81040188
40	EGR1	chr16:81039873-81041642	MCF-7	breast:	n/a	chr16:81041050-81041063 chr16:81040794-81040804 chr16:81041050-81041063 chr16:81040073-81040087 chr16:81041049-81041064 chr16:81041050-81041063 chr16:81040519-81040528
41	POLR2A	chr16:81039782-81041582	PBDE	blood:	n/a	n/a
42	POLR2A	chr16:81039798-81042062	GM12878	blood:	n/a	n/a
43	GATA3	chr16:81039691-81041600	A549	lung:	n/a	chr16:81040250-81040260
44	RELA	chr16:81039816-81041481	GM15510	blood:	n/a	n/a
45	POLR2A	chr16:81039886-81042074	HepG2	liver:	n/a	n/a
46	IRF1	chr16:81039214-81041494	K562	blood:	n/a	chr16:81039570-81039584 chr16:81039573-81039587 chr16:81041214-81041225 chr16:81041214-81041226 chr16:81039575-81039591 chr16:81039572-81039585 chr16:81041214-81041226 chr16:81039572-81039586 chr16:81040780-81040794
47	POLR2A	chr16:81039824-81041550	K562	blood:	n/a	n/a
48	PBX3	chr16:81039819-81040337	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr16:81039784-81041545	ProgFib	skin:	n/a	n/a
50	POLR2A	chr16:81039819-81041617	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81025473..81027772-chr16:81037035..81041311,4	K562	blood:
2	chr16:81038258..81040784-chr16:81347032..81349945,2	K562	blood:
3	chr16:81038105..81044923-chr16:81066300..81070952,14	MCF-7	breast:
4	chr16:81037151..81044642-chr16:81065528..81070966,16	K562	blood:
5	chr16:81028135..81034571-chr16:81035246..81044200,13	K562	blood:
6	chr16:81039624..81041255-chr16:81107979..81110813,2	MCF-7	breast:
7	chr16:81038653..81041025-chr16:81346635..81349129,2	MCF-7	breast:
8	chr16:81037996..81043724-chr16:81066407..81071400,11	MCF-7	breast:
9	chr16:81038376..81042418-chr16:81108432..81111584,4	K562	blood:
10	chr16:81037094..81043910-chr16:81050858..81058489,11	MCF-7	breast:
11	chr16:81039002..81041272-chr16:81057250..81059847,2	MCF-7	breast:
12	chr16:81038376..81043277-chr16:81108432..81112403,6	K562	blood:
13	chr16:81038922..81040878-chr16:81128552..81130305,2	MCF-7	breast:
14	chr16:81037151..81042784-chr16:81066438..81073797,14	K562	blood:
15	chr1:156051144..156052645-chr16:81039463..81041221,2	MCF-7	breast:
16	chr16:81036155..81041262-chr16:81074086..81079875,7	K562	blood:
17	chr16:81039722..81044457-chr16:81106699..81112118,5	MCF-7	breast:

Variant related genes	Relation type
CENPN	TF binding region
ENSG00000166454	Chromatin interaction
ENSG00000245059	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000254726	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000261609	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000160789	Chromatin interaction
ENSG00000260495	Chromatin interaction
ENSG00000140905	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12917718	1.00[AMR][1000 genomes]
rs1463286	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2084960	1.00[AMR][1000 genomes]
rs2084961	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2084962	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2317088	1.00[AMR][1000 genomes]
rs2549851	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2602445	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2911153	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2911154	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35109118	1.00[AMR][1000 genomes]
rs4888119	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889238	1.00[AMR][1000 genomes]
rs55735411	1.00[AMR][1000 genomes]
rs6564817	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6564823	1.00[AMR][1000 genomes]
rs7193361	1.00[AMR][1000 genomes]
rs74028849	1.00[AMR][1000 genomes]
rs804884	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs804891	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050760	1.00[AMR][1000 genomes]
rs935939	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs935940	0.97[AFR][1000 genomes];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	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	41 gene(s)	inside rSNPs	diseases
3	nsv1058045	chr16:80918138-81048242	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	nsv573338	chr16:81020393-81106944	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81037600-81040000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr16:81037800-81040000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr16:81037800-81040000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:81037800-81042000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr16:81037800-81042400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr16:81038000-81040000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr16:81038200-81041800	Active TSS	Ovary	ovary
8	chr16:81038200-81041800	Active TSS	Hela-S3	cervix
9	chr16:81038200-81042000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr16:81038200-81042400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:81038400-81042000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr16:81038400-81042200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr16:81038400-81042200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:81038600-81040000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr16:81038800-81041800	Active TSS	Left Ventricle	heart
16	chr16:81038800-81042000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:81038800-81042200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr16:81038800-81042200	Active TSS	A549	lung
19	chr16:81038800-81042400	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr16:81039000-81040000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr16:81039200-81040000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr16:81039200-81040000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr16:81039200-81040000	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr16:81039200-81040000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr16:81039200-81040000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr16:81039200-81040000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr16:81039200-81040000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr16:81039200-81040000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:81039200-81040000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr16:81039200-81040000	Flanking Active TSS	Liver	Liver
31	chr16:81039200-81040000	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr16:81039200-81040000	Flanking Active TSS	Fetal Brain Female	brain
33	chr16:81039200-81040000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr16:81039200-81040000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr16:81039200-81040000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr16:81039200-81040200	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr16:81039200-81040200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr16:81039200-81041800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:81039200-81041800	Active TSS	Stomach Mucosa	stomach
40	chr16:81039400-81040000	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr16:81039400-81040000	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr16:81039400-81041000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr16:81039400-81041600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
44	chr16:81039400-81041800	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr16:81039400-81041800	Active TSS	Gastric	stomach
46	chr16:81039400-81042000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr16:81039400-81042200	Active TSS	Colonic Mucosa	Colon
48	chr16:81039400-81042400	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr16:81039400-81042400	Active TSS	NHLF	lung
50	chr16:81039600-81040000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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