Variant report

Variant	rs11149971
Chromosome Location	chr16:77238810-77238811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:77237241..77240188-chr16:77241145..77243941,2	K562	blood:
2	chr16:77236361..77239415-chr16:77244434..77246985,4	K562	blood:
3	chr16:77224511..77226496-chr16:77236781..77240927,3	K562	blood:
4	chr16:77226309..77229972-chr16:77237305..77239094,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103111	Chromatin interaction
ENSG00000205078	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1019565	1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11544783	1.00[ASN][1000 genomes]
rs11640619	1.00[CEU][hapmap]
rs11641916	1.00[CEU][hapmap]
rs11647132	1.00[CEU][hapmap]
rs11860898	0.91[ASN][1000 genomes]
rs11863718	1.00[ASN][1000 genomes]
rs12925016	1.00[CEU][hapmap]
rs12928712	1.00[CEU][hapmap]
rs12931673	0.90[ASN][1000 genomes]
rs13329731	0.90[ASN][1000 genomes]
rs13329816	0.90[ASN][1000 genomes]
rs13330279	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13330367	0.90[ASN][1000 genomes]
rs13332812	0.90[ASN][1000 genomes]
rs13336198	1.00[ASN][1000 genomes]
rs13337994	0.90[ASN][1000 genomes]
rs13339324	0.81[ASN][1000 genomes]
rs1428838	0.90[ASN][1000 genomes]
rs1428839	0.90[ASN][1000 genomes]
rs2017197	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2232494	1.00[CEU][hapmap]
rs28539358	0.90[ASN][1000 genomes]
rs61746433	1.00[ASN][1000 genomes]
rs6564417	0.90[ASN][1000 genomes]
rs7184776	0.91[ASN][1000 genomes]
rs7188241	0.90[ASN][1000 genomes]
rs719053	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7198006	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7198588	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7201284	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs7203467	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73627401	0.90[ASN][1000 genomes]
rs73633620	0.90[ASN][1000 genomes]
rs73633624	0.90[ASN][1000 genomes]
rs73633633	0.90[ASN][1000 genomes]
rs73633644	0.90[ASN][1000 genomes]
rs73633647	0.90[ASN][1000 genomes]
rs73633654	0.90[ASN][1000 genomes]
rs73633661	0.90[ASN][1000 genomes]
rs7501191	0.90[ASN][1000 genomes]
rs8048478	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9924958	1.00[ASN][1000 genomes]
rs9929722	0.90[ASN][1000 genomes]
rs9931082	1.00[ASN][1000 genomes]
rs9931400	0.90[ASN][1000 genomes]
rs9935921	0.90[ASN][1000 genomes]
rs9936182	0.90[ASN][1000 genomes]
rs9937408	0.90[ASN][1000 genomes]
rs9937693	0.90[ASN][1000 genomes]
rs9938871	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065343	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv542965	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1055234	chr16:77003426-77467286	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1065048	chr16:77003426-77675163	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv2830376	chr16:77014551-77658185	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1065149	chr16:77032082-77671890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1062349	chr16:77039764-77458731	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv542967	chr16:77039764-77458731	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1056676	chr16:77139682-77854848	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv1066258	chr16:77229953-77521919	Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv542968	chr16:77229953-77521919	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77226200-77240400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr16:77226400-77240200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr16:77227000-77246000	Weak transcription	Fetal Heart	heart
4	chr16:77227200-77245800	Weak transcription	Fetal Kidney	kidney
5	chr16:77227200-77247200	Weak transcription	Hela-S3	cervix
6	chr16:77233200-77243400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr16:77233200-77245600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr16:77233200-77245600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr16:77233200-77245800	Weak transcription	NHEK	skin
10	chr16:77233400-77239600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:77233400-77240000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:77233400-77245000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:77233400-77245400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:77233400-77245600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr16:77233400-77245600	Weak transcription	HMEC	breast
16	chr16:77233400-77245600	Weak transcription	NH-A	brain
17	chr16:77233400-77246000	Weak transcription	Aorta	Aorta
18	chr16:77233400-77246000	Weak transcription	Brain Angular Gyrus	brain
19	chr16:77233400-77246000	Weak transcription	Brain Substantia Nigra	brain
20	chr16:77233600-77240200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr16:77233800-77239400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr16:77233800-77239600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr16:77233800-77240000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr16:77233800-77240000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr16:77233800-77245400	Weak transcription	A549	lung
26	chr16:77233800-77245600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr16:77233800-77245600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr16:77233800-77245600	Weak transcription	Brain Germinal Matrix	brain
29	chr16:77233800-77245600	Weak transcription	Fetal Lung	lung
30	chr16:77233800-77245600	Weak transcription	HUVEC	blood vessel
31	chr16:77233800-77245800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr16:77233800-77245800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr16:77233800-77245800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr16:77233800-77245800	Weak transcription	Fetal Brain Female	brain
35	chr16:77233800-77245800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr16:77233800-77246000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr16:77233800-77246000	Weak transcription	HSMMtube	muscle
38	chr16:77234000-77239400	Weak transcription	Fetal Intestine Small	intestine
39	chr16:77234000-77239600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr16:77234000-77239600	Weak transcription	Adipose Nuclei	Adipose
41	chr16:77234000-77240200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr16:77234000-77240400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr16:77234000-77240600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr16:77234000-77240800	Weak transcription	Left Ventricle	heart
45	chr16:77234000-77242400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr16:77234000-77243800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:77234000-77245400	Weak transcription	Pancreas	Pancrea
48	chr16:77234000-77245600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr16:77234000-77245600	Weak transcription	Esophagus	oesophagus
50	chr16:77234000-77245600	Weak transcription	Thymus	Thymus

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