Variant report

Variant	rs61358325
Chromosome Location	chr16:81038878-81038879
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr16:81038615-81038994	GM12878	blood:	n/a	n/a
2	PAX5	chr16:81038706-81038998	GM12878	blood:	n/a	n/a
3	MAX	chr16:81038706-81039038	K562	blood:	n/a	n/a
4	PAX5	chr16:81038650-81038992	GM12878	blood:	n/a	n/a
5	POLR2A	chr16:81038824-81038927	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr16:81038768-81038978	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr16:81038829-81041850	Hela-S3	cervix:	n/a	n/a
8	YY1	chr16:81038802-81039015	K562	blood:	n/a	n/a
9	PAX5	chr16:81038753-81038973	GM12878	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

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	chr16:81038653..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	chr16:81000562..81002901-chr16:81037638..81039411,2	K562	blood:
12	chr16:81038376..81043277-chr16:81108432..81112403,6	K562	blood:
13	chr16:81037151..81042784-chr16:81066438..81073797,14	K562	blood:
14	chr16:81036155..81041262-chr16:81074086..81079875,7	K562	blood:

No data

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

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13333069	1.00[AMR][1000 genomes]
rs13338407	1.00[AMR][1000 genomes]
rs16944336	1.00[AMR][1000 genomes]
rs16944341	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16954361	1.00[AMR][1000 genomes]
rs16954364	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16954377	1.00[AMR][1000 genomes]
rs16954453	1.00[AMR][1000 genomes]
rs2194318	0.91[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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81014000-81039200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:81022000-81039200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:81027200-81039200	Weak transcription	Aorta	Aorta
4	chr16:81035600-81039400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:81036000-81039400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:81036600-81039200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr16:81036600-81039400	Enhancers	Fetal Heart	heart
8	chr16:81036600-81039400	Enhancers	Fetal Lung	lung
9	chr16:81036600-81039400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr16:81037000-81039000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr16:81037200-81039000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:81037200-81039600	Flanking Active TSS	Dnd41	blood
13	chr16:81037600-81039000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr16:81037600-81039200	Enhancers	Fetal Muscle Trunk	muscle
15	chr16:81037600-81039200	Enhancers	Fetal Muscle Leg	muscle
16	chr16:81037600-81039200	Enhancers	Fetal Thymus	thymus
17	chr16:81037600-81039200	Enhancers	Lung	lung
18	chr16:81037600-81039200	Active TSS	GM12878-XiMat	blood
19	chr16:81037600-81039200	Active TSS	NHLF	lung
20	chr16:81037600-81039600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:81037600-81039600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr16:81037600-81039600	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr16:81037600-81039800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr16:81037600-81039800	Enhancers	Small Intestine	intestine
25	chr16:81037600-81040000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr16:81037800-81039200	Active TSS	Right Atrium	heart
27	chr16:81037800-81039600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr16:81037800-81039600	Flanking Active TSS	HUVEC	blood vessel
29	chr16:81037800-81040000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr16:81037800-81040000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr16:81037800-81042000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr16:81037800-81042400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:81038000-81039000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr16:81038000-81039000	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr16:81038000-81039000	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr16:81038000-81039000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr16:81038000-81039200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr16:81038000-81039200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr16:81038000-81039200	Enhancers	Fetal Kidney	kidney
40	chr16:81038000-81039200	Enhancers	HSMMtube	muscle
41	chr16:81038000-81039400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr16:81038000-81039800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr16:81038000-81040000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr16:81038200-81039000	Enhancers	HMEC	breast
45	chr16:81038200-81039000	Active TSS	NHDF-Ad	bronchial
46	chr16:81038200-81039200	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr16:81038200-81039200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr16:81038200-81039200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr16:81038200-81039200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr16:81038200-81039200	Enhancers	Primary B cells from cord blood	blood

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