Variant report

Variant	rs9931063
Chromosome Location	chr16:81037883-81037884
allele	A/G
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	IRF1	chr16:81037699-81038045	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 chr16:81037860-81037880 chr16:81037865-81037879 chr16:81037868-81037878 chr16:81037868-81037882
2	WRNIP1	chr16:81037862-81038278	GM12878	blood:	n/a	n/a
3	CTCF	chr16:81037840-81037990	NHDF-neo	bronchial:	n/a	n/a
4	CTCF	chr16:81037880-81038030	GM12873	blood:	n/a	n/a
5	MXI1	chr16:81037831-81038683	GM12878	blood:	n/a	n/a
6	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
7	CTCF	chr16:81037880-81038170	GM12867	blood:	n/a	n/a
8	IRF1	chr16:81037703-81038580	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 chr16:81037860-81037880 chr16:81037865-81037879 chr16:81037868-81037878 chr16:81037868-81037882

No.	Distal block	Cell Line	Cell type
1	chr16:81025473..81027772-chr16:81037035..81041311,4	K562	blood:
2	chr16:81037151..81044642-chr16:81065528..81070966,16	K562	blood:
3	chr16:81028135..81034571-chr16:81035246..81044200,13	K562	blood:
4	chr16:81022564..81024564-chr16:81037053..81038818,2	K562	blood:
5	chr16:81037094..81043910-chr16:81050858..81058489,11	MCF-7	breast:
6	chr16:81000562..81002901-chr16:81037638..81039411,2	K562	blood:
7	chr16:81037151..81042784-chr16:81066438..81073797,14	K562	blood:
8	chr16:81036155..81041262-chr16:81074086..81079875,7	K562	blood:

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

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10459871	1.00[YRI][hapmap]
rs10459872	1.00[YRI][hapmap]
rs10492891	0.80[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10514512	1.00[YRI][hapmap]
rs11150335	0.90[EUR][1000 genomes]
rs11150336	0.87[ASN][1000 genomes]
rs11864984	0.99[ASN][1000 genomes]
rs12443549	1.00[YRI][hapmap]
rs12444137	1.00[YRI][hapmap]
rs12918429	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16944339	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs16944345	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs16944347	0.80[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16954366	0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2011142	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2167890	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2194323	0.99[ASN][1000 genomes]
rs2549822	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2549825	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2549831	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2549832	0.80[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2549834	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2549860	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2602450	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28659930	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28688510	0.96[ASN][1000 genomes]
rs2970080	0.91[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3759933	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7201499	0.98[ASN][1000 genomes]
rs754429	1.00[YRI][hapmap]
rs8177876	1.00[YRI][hapmap]
rs9921348	0.80[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9929815	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9939934	0.95[AMR][1000 genomes];0.91[EUR][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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81001400-81038000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr16:81009200-81038800	Weak transcription	Spleen	Spleen
3	chr16:81014000-81039200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:81022000-81038000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr16:81022000-81038200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr16:81022000-81039200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:81022200-81038400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:81022600-81038000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr16:81022600-81038200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:81024400-81038800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr16:81025200-81038000	Weak transcription	Pancreas	Pancrea
12	chr16:81027200-81038000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr16:81027200-81039200	Weak transcription	Aorta	Aorta
14	chr16:81027600-81038200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr16:81027800-81038000	Weak transcription	Brain Anterior Caudate	brain
16	chr16:81028800-81038000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:81028800-81038000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:81029600-81038000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:81031000-81038200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr16:81031200-81038000	Weak transcription	Colon Smooth Muscle	Colon
21	chr16:81031200-81038200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr16:81031800-81038000	Weak transcription	Fetal Kidney	kidney
23	chr16:81034800-81038000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:81034800-81038200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr16:81035200-81038000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr16:81035600-81039400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr16:81036000-81039400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr16:81036600-81039200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr16:81036600-81039400	Enhancers	Fetal Heart	heart
30	chr16:81036600-81039400	Enhancers	Fetal Lung	lung
31	chr16:81036600-81039400	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr16:81037000-81038000	Enhancers	Brain Cingulate Gyrus	brain
33	chr16:81037000-81038000	Enhancers	Brain Hippocampus Middle	brain
34	chr16:81037000-81038000	Enhancers	A549	lung
35	chr16:81037000-81038200	Flanking Active TSS	Hela-S3	cervix
36	chr16:81037000-81038600	Enhancers	Brain Substantia Nigra	brain
37	chr16:81037000-81039000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr16:81037200-81038000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr16:81037200-81038200	Enhancers	Fetal Brain Male	brain
40	chr16:81037200-81039000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr16:81037200-81039600	Flanking Active TSS	Dnd41	blood
42	chr16:81037400-81038000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr16:81037600-81038000	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr16:81037600-81038000	Active TSS	Rectal Smooth Muscle	rectum
45	chr16:81037600-81038000	Enhancers	HMEC	breast
46	chr16:81037600-81038000	Enhancers	NH-A	brain
47	chr16:81037600-81038200	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr16:81037600-81038200	Enhancers	Gastric	stomach
49	chr16:81037600-81038200	Enhancers	HSMM	muscle
50	chr16:81037600-81038400	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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