Variant report

Variant	rs34939440
Chromosome Location	chr16:81038646-81038647
allele	-/A
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	CTCF	chr16:81038014-81038754	SK-N-SH	brain:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
2	CTCF	chr16:81038640-81038790	GM12873	blood:	n/a	n/a
3	CTCF	chr16:81037917-81038862	HCT-116	colon:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
4	TBP	chr16:81037949-81038675	GM12878	blood:	n/a	n/a
5	PAX5	chr16:81038615-81038994	GM12878	blood:	n/a	n/a
6	CTCF	chr16:81038640-81038790	SK-N-SH_RA	brain:	n/a	n/a
7	EBF1	chr16:81038326-81038647	GM12878	blood:	n/a	n/a
8	CTCF	chr16:81037967-81038767	A549	lung:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
9	CTCF	chr16:81038118-81038689	HCT-116	colon:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
10	MAFK	chr16:81038363-81038658	IMR90	lung:	n/a	n/a
11	MAFK	chr16:81038283-81038686	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr16:81038600-81038750	NHEK	skin:	n/a	n/a
13	POLR2A	chr16:81038486-81038665	MCF10A-Er-Src	breast:	n/a	n/a
14	MXI1	chr16:81037831-81038683	GM12878	blood:	n/a	n/a
15	CTCF	chr16:81038198-81038712	GM12878	blood:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
16	IRF1	chr16:81037079-81038659	K562	blood:	n/a	chr16:81037864-81037878 chr16:81037862-81037876 chr16:81037866-81037879 chr16:81037867-81037884 chr16:81037866-81037879 chr16:81037861-81037875 chr16:81037868-81037879 chr16:81037862-81037883 chr16:81037863-81037874 chr16:81037861-81037874 chr16:81037866-81037879 chr16:81038574-81038590 chr16:81037860-81037880 chr16:81037865-81037879 chr16:81037868-81037878 chr16:81037868-81037882
17	MYC	chr16:81038287-81038667	MCF10A-Er-Src	breast:	n/a	n/a
18	RAD21	chr16:81038203-81038672	HepG2	liver:	n/a	chr16:81038418-81038437 chr16:81038419-81038428
19	ZNF384	chr16:81038553-81038870	GM12878	blood:	n/a	n/a
20	CTCF	chr16:81038181-81038698	MCF-7	breast:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
21	MAFF	chr16:81038365-81038701	HepG2	liver:	n/a	n/a
22	MAFK	chr16:81038404-81038691	HepG2	liver:	n/a	n/a
23	CTCF	chr16:81038149-81038680	K562	blood:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
24	CTCF	chr16:81038600-81038750	GM12864	blood:	n/a	n/a
25	CTCF	chr16:81038171-81038656	A549	lung:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
26	TBL1XR1	chr16:81038151-81038836	K562	blood:	n/a	n/a
27	MAZ	chr16:81038383-81038848	GM12878	blood:	n/a	n/a
28	TBP	chr16:81038193-81038692	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr16:81038640-81038790	GM12867	blood:	n/a	n/a
30	BRCA1	chr16:81038251-81038654	Hela-S3	cervix:	n/a	n/a
31	CUX1	chr16:81038348-81038679	GM12878	blood:	n/a	n/a
32	CTCF	chr16:81038540-81038690	Caco-2	colon:	n/a	n/a
33	RAD21	chr16:81038251-81038680	HepG2	liver:	n/a	chr16:81038418-81038437 chr16:81038419-81038428
34	CTCF	chr16:81038600-81038750	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81037980..81039028-chr16:81068868..81069708,4	MCF-7	breast:
2	chr16:81025473..81027772-chr16:81037035..81041311,4	K562	blood:
3	chr16:81038258..81040784-chr16:81347032..81349945,2	K562	blood:
4	chr16:81038105..81044923-chr16:81066300..81070952,14	MCF-7	breast:
5	chr16:81037151..81044642-chr16:81065528..81070966,16	K562	blood:
6	chr16:81028135..81034571-chr16:81035246..81044200,13	K562	blood:
7	chr16:81022564..81024564-chr16:81037053..81038818,2	K562	blood:
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	chr16:81037997..81038816-chr16:81068689..81069738,5	MCF-7	breast:
12	chr16:81000562..81002901-chr16:81037638..81039411,2	K562	blood:
13	chr16:81038376..81043277-chr16:81108432..81112403,6	K562	blood:
14	chr16:81037151..81042784-chr16:81066438..81073797,14	K562	blood:
15	chr16:81036155..81041262-chr16:81074086..81079875,7	K562	blood:

Variant related genes	Relation type
CENPN	TF binding region
ENSG00000261609	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000245059	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000166454	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[AMR][1000 genomes]
rs11863599	1.00[AMR][1000 genomes]
rs35557730	1.00[AMR][1000 genomes]
rs35958849	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81009200-81038800	Weak transcription	Spleen	Spleen
2	chr16:81014000-81039200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:81022000-81039200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:81024400-81038800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:81027200-81039200	Weak transcription	Aorta	Aorta
6	chr16:81035600-81039400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr16:81036000-81039400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:81036600-81039200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr16:81036600-81039400	Enhancers	Fetal Heart	heart
10	chr16:81036600-81039400	Enhancers	Fetal Lung	lung
11	chr16:81036600-81039400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr16:81037000-81039000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr16:81037200-81039000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:81037200-81039600	Flanking Active TSS	Dnd41	blood
15	chr16:81037600-81038800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr16:81037600-81038800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr16:81037600-81038800	Flanking Active TSS	Liver	Liver
18	chr16:81037600-81038800	Enhancers	Placenta	Placenta
19	chr16:81037600-81038800	Enhancers	Psoas Muscle	Psoas
20	chr16:81037600-81039000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr16:81037600-81039200	Enhancers	Fetal Muscle Trunk	muscle
22	chr16:81037600-81039200	Enhancers	Fetal Muscle Leg	muscle
23	chr16:81037600-81039200	Enhancers	Fetal Thymus	thymus
24	chr16:81037600-81039200	Enhancers	Lung	lung
25	chr16:81037600-81039200	Active TSS	GM12878-XiMat	blood
26	chr16:81037600-81039200	Active TSS	NHLF	lung
27	chr16:81037600-81039600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:81037600-81039600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr16:81037600-81039600	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr16:81037600-81039800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:81037600-81039800	Enhancers	Small Intestine	intestine
32	chr16:81037600-81040000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr16:81037800-81038800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr16:81037800-81038800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr16:81037800-81038800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr16:81037800-81038800	Enhancers	Brain Angular Gyrus	brain
37	chr16:81037800-81038800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr16:81037800-81038800	Flanking Active TSS	NHEK	skin
39	chr16:81037800-81039200	Active TSS	Right Atrium	heart
40	chr16:81037800-81039600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr16:81037800-81039600	Flanking Active TSS	HUVEC	blood vessel
42	chr16:81037800-81040000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:81037800-81040000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr16:81037800-81042000	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr16:81037800-81042400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr16:81038000-81038800	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr16:81038000-81038800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:81038000-81038800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr16:81038000-81039000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr16:81038000-81039000	Flanking Active TSS	Brain Anterior Caudate	brain

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