Variant report

Variant	rs246144
Chromosome Location	chr16:69470634-69470635
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69464920..69466673-chr16:69468432..69470941,2	K562	blood:
2	chr16:69469350..69472024-chr16:69498494..69500760,2	MCF-7	breast:
3	chr16:69470314..69472644-chr16:69599328..69601586,2	MCF-7	breast:
4	chr16:69462068..69464563-chr16:69470368..69472006,2	K562	blood:

Variant related genes	Relation type
ENSG00000223109	Chromatin interaction
ENSG00000102908	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10048086	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11075720	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs153053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs153058	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs246132	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs246138	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs246140	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246142	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs246145	0.84[CEU][hapmap];0.82[JPT][hapmap]
rs246148	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4783708	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6499227	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7185800	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7206737	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs728546	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs8064195	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs862349	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064808	chr16:69271190-69552951	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv542940	chr16:69271190-69552951	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv431514	chr16:69428599-69581699	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69459200-69478000	Weak transcription	Aorta	Aorta
2	chr16:69459400-69477800	Weak transcription	Right Ventricle	heart
3	chr16:69459400-69500600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:69459600-69499000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr16:69459800-69473200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr16:69459800-69477000	Weak transcription	HSMMtube	muscle
7	chr16:69459800-69478800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr16:69463000-69473200	Weak transcription	Spleen	Spleen
9	chr16:69463200-69472400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:69463200-69474200	Weak transcription	Fetal Brain Male	brain
11	chr16:69463200-69475600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:69463200-69477800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr16:69463600-69470800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr16:69463600-69470800	Weak transcription	Brain Angular Gyrus	brain
15	chr16:69463600-69478000	Weak transcription	Esophagus	oesophagus
16	chr16:69465200-69478000	Weak transcription	Ovary	ovary
17	chr16:69465600-69477800	Weak transcription	Colon Smooth Muscle	Colon
18	chr16:69465800-69477200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr16:69465800-69477200	Weak transcription	Brain Substantia Nigra	brain
20	chr16:69466000-69477200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr16:69466000-69481000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr16:69466200-69472200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr16:69466200-69474000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr16:69466200-69477000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr16:69466200-69480800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr16:69466200-69482600	Weak transcription	Brain Germinal Matrix	brain
27	chr16:69466200-69496600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr16:69466400-69477600	Weak transcription	NHLF	lung
29	chr16:69466400-69478000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr16:69466600-69477200	Weak transcription	NH-A	brain
31	chr16:69466600-69477400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr16:69466800-69476400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr16:69466800-69477800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr16:69467000-69471000	Genic enhancers	Hela-S3	cervix
35	chr16:69467000-69475600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr16:69467000-69486000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr16:69467000-69486200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:69467600-69477800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr16:69467800-69477000	Weak transcription	K562	blood
40	chr16:69467800-69477000	Weak transcription	Osteobl	bone
41	chr16:69467800-69477800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr16:69467800-69478000	Weak transcription	Colonic Mucosa	Colon
43	chr16:69467800-69478000	Weak transcription	Fetal Muscle Leg	muscle
44	chr16:69467800-69480600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr16:69467800-69480800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr16:69468000-69472200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr16:69468000-69473600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr16:69468000-69475600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:69468000-69477000	Weak transcription	NHDF-Ad	bronchial
50	chr16:69468000-69477800	Weak transcription	Rectal Mucosa Donor 29	rectum

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