Variant report

Variant	rs13337497
Chromosome Location	chr16:81026548-81026549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr16:81026380-81026634	K562	blood:	n/a	n/a
2	BRCA1	chr16:81026384-81027436	Hela-S3	cervix:	n/a	n/a
3	FOXA2	chr16:81025091-81027098	HepG2	liver:	n/a	n/a
4	JUND	chr16:81026544-81027832	Hela-S3	cervix:	n/a	n/a
5	TBP	chr16:81026547-81027520	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81025909..81029223-chr16:81033494..81036388,3	K562	blood:
2	chr16:81025473..81027772-chr16:81037035..81041311,4	K562	blood:
3	chr16:81016839..81018577-chr16:81026525..81028727,2	MCF-7	breast:
4	chr16:81025833..81027865-chr16:81069028..81070871,2	K562	blood:

No data

Variant related genes	Relation type
CMC2	TF binding region
ENSG00000260213	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000166454	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12103363	0.80[AFR][1000 genomes]
rs12448368	0.93[ASN][1000 genomes]
rs13331285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13331458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13337596	0.80[AFR][1000 genomes]
rs16944340	0.81[ASN][1000 genomes]
rs16944343	0.83[ASN][1000 genomes]
rs16944344	0.83[ASN][1000 genomes]
rs16954368	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16954370	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16954379	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16954399	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2081215	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2081216	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2303215	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2303216	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28532906	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28544251	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28635633	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3743503	0.92[ASN][1000 genomes]
rs3784815	0.91[ASN][1000 genomes]
rs3826049	0.91[ASN][1000 genomes]
rs4514692	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60950004	0.80[AFR][1000 genomes]
rs61540150	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62054244	0.85[ASN][1000 genomes]
rs62054245	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62054248	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62054250	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62056080	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62056084	0.95[ASN][1000 genomes]
rs7202452	0.95[ASN][1000 genomes]
rs7202885	0.95[ASN][1000 genomes]
rs8045514	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9935739	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	esv2756816	chr16:80972279-81027142	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv2758663	chr16:80972279-81027142	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	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
9	nsv817744	chr16:80989859-81027685	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv11135	chr16:80997245-81028812	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv573337	chr16:80997892-81027685	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1061745	chr16:80998523-81029147	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	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
14	esv2753780	chr16:81010299-81028799	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13337497	CENPN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80998400-81030800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr16:81001400-81038000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr16:81003600-81026800	Weak transcription	Brain Substantia Nigra	brain
4	chr16:81005200-81030600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr16:81006600-81029800	Weak transcription	Fetal Kidney	kidney
6	chr16:81007200-81030800	Weak transcription	Psoas Muscle	Psoas
7	chr16:81007600-81027000	Weak transcription	Fetal Brain Female	brain
8	chr16:81007800-81026600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:81009000-81026800	Weak transcription	Fetal Lung	lung
10	chr16:81009200-81038800	Weak transcription	Spleen	Spleen
11	chr16:81009400-81026800	Weak transcription	Aorta	Aorta
12	chr16:81010000-81030800	Weak transcription	Ovary	ovary
13	chr16:81014000-81030600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr16:81014000-81039200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:81014400-81026800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr16:81014400-81030400	Weak transcription	Colon Smooth Muscle	Colon
17	chr16:81014400-81030800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr16:81014400-81037600	Weak transcription	Left Ventricle	heart
19	chr16:81014600-81026600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr16:81014600-81026600	Weak transcription	Fetal Brain Male	brain
21	chr16:81014600-81027000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr16:81014600-81027000	Weak transcription	Brain Germinal Matrix	brain
23	chr16:81014600-81027000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr16:81014600-81027200	Weak transcription	Fetal Intestine Small	intestine
25	chr16:81014600-81034000	Weak transcription	Fetal Stomach	stomach
26	chr16:81014600-81037600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr16:81014600-81037600	Weak transcription	Lung	lung
28	chr16:81015200-81030400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr16:81015200-81030400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr16:81015400-81026800	Weak transcription	Brain Angular Gyrus	brain
31	chr16:81015600-81030000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr16:81019800-81026600	Weak transcription	HMEC	breast
33	chr16:81020800-81029200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr16:81020800-81030800	Weak transcription	Right Ventricle	heart
35	chr16:81021400-81027200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr16:81021400-81027400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr16:81021400-81030800	Weak transcription	Right Atrium	heart
38	chr16:81022000-81027400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr16:81022000-81030400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr16:81022000-81038000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr16:81022000-81038200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr16:81022000-81039200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr16:81022200-81038400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr16:81022600-81027600	Weak transcription	Primary T cells from cord blood	blood
45	chr16:81022600-81038000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:81022600-81038200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr16:81022800-81026800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr16:81022800-81027200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr16:81024000-81026800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr16:81024200-81027400	Enhancers	Stomach Mucosa	stomach

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