Variant report

Variant	rs11646692
Chromosome Location	chr16:81271906-81271907
allele	C/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	KAP1	chr16:81271832-81272421	U2OS	brain:	n/a	n/a
2	ZNF263	chr16:81271901-81272610	HEK293-T-REx	kidney:	n/a	chr16:81272405-81272426
3	TCF12	chr16:81271818-81272425	A549	lung:	n/a	n/a
4	STAT3	chr16:81271890-81271941	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81266786..81269384-chr16:81269942..81271960,2	MCF-7	breast:

Variant related genes	Relation type
BCMO1	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11639823	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11640168	0.87[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11640301	0.88[ASN][1000 genomes]
rs11641677	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11643312	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11645422	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11648958	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12149166	0.81[ASN][1000 genomes]
rs12149297	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149309	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12149323	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149653	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12149675	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28370522	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28445158	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28543000	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28680248	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4889289	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4889290	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59096149	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60640107	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60679081	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62054699	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62054700	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62054702	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6564852	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6564853	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6564854	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6564855	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6564856	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6564857	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6564858	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6564859	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6564860	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6564861	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6564862	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7192178	0.81[CHB][hapmap]
rs7192614	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7205123	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8062143	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9939335	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
6	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
7	nsv457573	chr16:81204081-81294893	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv573354	chr16:81204081-81294893	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv527288	chr16:81204188-81310947	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv1057230	chr16:81204423-81299509	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv1067235	chr16:81204423-81303759	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
12	nsv1063482	chr16:81207377-81303759	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
13	nsv1064529	chr16:81223243-81303759	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	esv2830030	chr16:81238818-81303759	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	nsv1061931	chr16:81247114-81273163	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
16	nsv1058690	chr16:81247114-81280613	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	esv2761925	chr16:81262516-81278038	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	esv2755860	chr16:81262516-81333568	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81270200-81272000	Weak transcription	Left Ventricle	heart
2	chr16:81270800-81272000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr16:81270800-81273200	Enhancers	Fetal Muscle Leg	muscle
4	chr16:81271000-81272000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr16:81271000-81272000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:81271000-81272000	Enhancers	Liver	Liver
7	chr16:81271000-81272000	Enhancers	Brain Cingulate Gyrus	brain
8	chr16:81271000-81272000	Enhancers	Fetal Muscle Trunk	muscle
9	chr16:81271000-81272000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr16:81271000-81272000	Enhancers	HMEC	breast
11	chr16:81271000-81272200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:81271000-81272600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:81271000-81273000	Enhancers	Pancreas	Pancrea
14	chr16:81271000-81273600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr16:81271200-81272000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr16:81271200-81272000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr16:81271200-81272000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr16:81271200-81272000	Weak transcription	Esophagus	oesophagus
19	chr16:81271200-81272000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr16:81271200-81272600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr16:81271400-81272000	Enhancers	Fetal Lung	lung
22	chr16:81271400-81272000	Enhancers	Psoas Muscle	Psoas
23	chr16:81271400-81272400	Active TSS	Rectal Smooth Muscle	rectum
24	chr16:81271400-81272600	Flanking Active TSS	HepG2	liver
25	chr16:81271400-81273200	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr16:81271600-81272200	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr16:81271600-81272400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:81271600-81272600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:81271600-81272800	Active TSS	Colonic Mucosa	Colon
30	chr16:81271800-81272000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:81271800-81272000	Weak transcription	Brain Anterior Caudate	brain
32	chr16:81271800-81272000	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr16:81271800-81272000	Enhancers	Fetal Stomach	stomach
34	chr16:81271800-81272000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr16:81271800-81272000	Active TSS	Stomach Smooth Muscle	stomach
36	chr16:81271800-81272200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr16:81271800-81272200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr16:81271800-81272200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:81271800-81272200	Enhancers	Fetal Intestine Large	intestine
40	chr16:81271800-81272200	Active TSS	Fetal Kidney	kidney
41	chr16:81271800-81272200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr16:81271800-81272200	Flanking Active TSS	Osteobl	bone
43	chr16:81271800-81272400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr16:81271800-81272400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:81271800-81272400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:81271800-81272400	Active TSS	Muscle Satellite Cultured Cells	--
47	chr16:81271800-81272400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr16:81271800-81272400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:81271800-81272400	Active TSS	Hela-S3	cervix
50	chr16:81271800-81272400	Flanking Active TSS	NH-A	brain

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