Variant report

Variant	rs16954355
Chromosome Location	chr16:81008860-81008861
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:81008293..81009087-chr16:81022137..81022800,2	MCF-7	breast:
2	chr16:81006336..81010251-chr16:81016347..81019319,3	K562	blood:
3	chr16:81007590..81009506-chr16:81039765..81041887,2	MCF-7	breast:
4	chr16:81007937..81010698-chr16:81068486..81070530,2	MCF-7	breast:
5	chr16:81007739..81010251-chr16:81016347..81018529,2	K562	blood:
6	chr16:81005392..81007770-chr16:81008815..81010427,2	K562	blood:
7	chr16:81006406..81009066-chr16:81012697..81014236,2	K562	blood:
8	chr16:81008331..81009125-chr16:81068545..81069747,6	MCF-7	breast:
9	chr16:81006720..81008991-chr16:81041065..81043268,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260213	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000166451	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12103363	1.00[EUR][1000 genomes]
rs13329841	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13337596	1.00[EUR][1000 genomes]
rs16954313	0.88[YRI][hapmap]
rs16954388	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16954396	1.00[EUR][1000 genomes]
rs16954476	1.00[EUR][1000 genomes]
rs2123624	1.00[TSI][hapmap]
rs28838573	1.00[EUR][1000 genomes]
rs55664147	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56077763	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56231346	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56333013	1.00[EUR][1000 genomes]
rs56758545	1.00[EUR][1000 genomes]
rs56838270	1.00[EUR][1000 genomes]
rs57808460	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57830624	1.00[EUR][1000 genomes]
rs58231940	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58799815	0.86[AFR][1000 genomes]
rs59143415	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59569926	1.00[EUR][1000 genomes]
rs60277524	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60950004	1.00[EUR][1000 genomes]
rs61343635	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6564815	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6564816	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7187063	0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73593377	1.00[EUR][1000 genomes]
rs74028885	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74028889	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74028891	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74028894	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74028898	1.00[EUR][1000 genomes]
rs8059153	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80994600-81026400	Weak transcription	HSMMtube	muscle
2	chr16:80994800-81023400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr16:80996600-81018600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:80998000-81009600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:80998200-81009400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:80998200-81013800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:80998400-81030800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr16:80998600-81014800	Weak transcription	Brain Angular Gyrus	brain
9	chr16:81001000-81020400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr16:81001200-81013600	Weak transcription	Brain Hippocampus Middle	brain
11	chr16:81001400-81010200	Weak transcription	Colonic Mucosa	Colon
12	chr16:81001400-81013800	Weak transcription	Brain Anterior Caudate	brain
13	chr16:81001400-81026400	Weak transcription	NHLF	lung
14	chr16:81001400-81038000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:81002000-81013800	Weak transcription	Brain Germinal Matrix	brain
16	chr16:81002400-81013200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr16:81002600-81010000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr16:81002600-81012200	Weak transcription	Adipose Nuclei	Adipose
19	chr16:81002600-81013000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr16:81002600-81013000	Weak transcription	Fetal Intestine Large	intestine
21	chr16:81002600-81019400	Weak transcription	HMEC	breast
22	chr16:81002800-81017800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr16:81003200-81012200	Weak transcription	HUVEC	blood vessel
24	chr16:81003400-81011600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr16:81003600-81011000	Weak transcription	A549	lung
26	chr16:81003600-81026800	Weak transcription	Brain Substantia Nigra	brain
27	chr16:81003800-81011400	Strong transcription	Hela-S3	cervix
28	chr16:81004200-81025000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr16:81004400-81013600	Weak transcription	Right Ventricle	heart
30	chr16:81004600-81020400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr16:81005200-81030600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr16:81005400-81013200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr16:81005600-81013800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr16:81005800-81009200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr16:81005800-81010600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:81005800-81011200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr16:81005800-81011200	Strong transcription	Dnd41	blood
38	chr16:81005800-81015400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr16:81006000-81010200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr16:81006000-81014000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr16:81006000-81015800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:81006200-81009000	Weak transcription	Fetal Heart	heart
43	chr16:81006200-81019200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr16:81006400-81009400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr16:81006400-81009600	Strong transcription	Fetal Stomach	stomach
46	chr16:81006400-81015000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr16:81006600-81021400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr16:81006600-81029800	Weak transcription	Fetal Kidney	kidney
49	chr16:81006800-81009400	Strong transcription	Primary T cells from cord blood	blood
50	chr16:81006800-81009600	Strong transcription	Fetal Intestine Small	intestine

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