Variant report

Variant	rs12927943
Chromosome Location	chr16:81430926-81430927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81422372..81424000-chr16:81428464..81431283,2	MCF-7	breast:
2	chr16:81414835..81419984-chr16:81427493..81431152,5	K562	blood:

Variant related genes	Relation type
ENSG00000273048	Chromatin interaction
ENSG00000272923	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12103052	0.89[JPT][hapmap]
rs12149466	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12149583	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12920572	0.95[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12920577	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12927016	0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12929630	0.85[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12934716	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12935010	0.80[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17700694	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2446085	0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2447472	0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4384280	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8051314	0.81[JPT][hapmap]
rs8061056	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8062805	0.81[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes]
rs9921359	0.89[JPT][hapmap]
rs9938148	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81384200-81434600	Weak transcription	NHLF	lung
2	chr16:81384200-81437400	Weak transcription	Fetal Brain Male	brain
3	chr16:81399200-81431000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:81400000-81434600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr16:81411600-81437400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr16:81411800-81431000	Weak transcription	K562	blood
7	chr16:81411800-81432400	Weak transcription	A549	lung
8	chr16:81412200-81434400	Weak transcription	Hela-S3	cervix
9	chr16:81413400-81434200	Weak transcription	HMEC	breast
10	chr16:81415600-81437000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr16:81418200-81437200	Weak transcription	Colon Smooth Muscle	Colon
12	chr16:81418600-81431000	Weak transcription	Brain Germinal Matrix	brain
13	chr16:81418600-81437400	Weak transcription	Fetal Lung	lung
14	chr16:81422200-81432000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr16:81423200-81437400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:81423400-81431600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr16:81423600-81433400	Weak transcription	NHEK	skin
18	chr16:81425000-81431600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr16:81425000-81431800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr16:81425000-81434400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:81425000-81437000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr16:81425200-81431200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr16:81425200-81431800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr16:81425200-81434600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr16:81425800-81432400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr16:81425800-81434600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr16:81426000-81431200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr16:81426000-81434400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr16:81426000-81434400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr16:81426000-81436800	Weak transcription	Dnd41	blood
31	chr16:81426000-81437000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr16:81426000-81437200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr16:81426000-81437200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr16:81426000-81437200	Weak transcription	Liver	Liver
35	chr16:81426000-81437200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr16:81426000-81437400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:81426000-81437400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr16:81426200-81431000	Weak transcription	Fetal Intestine Small	intestine
39	chr16:81426200-81432600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr16:81426400-81431000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr16:81426400-81437000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr16:81428000-81431600	Enhancers	Spleen	Spleen
43	chr16:81429200-81437200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:81429800-81437200	Weak transcription	Right Atrium	heart
45	chr16:81430200-81431200	Weak transcription	Right Ventricle	heart
46	chr16:81430200-81434600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr16:81430200-81437400	Weak transcription	Gastric	stomach
48	chr16:81430200-81437400	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links