Variant report

Variant	rs16932423
Chromosome Location	chr8:66941334-66941335
allele	C/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:66860378..66862946-chr8:66940064..66944249,3	MCF-7	breast:
2	chr8:66933795..66936922-chr8:66937756..66943533,5	K562	blood:
3	chr8:66750304..66757030-chr8:66936519..66946979,24	MCF-7	breast:
4	chr8:66938865..66941643-chr8:66944661..66947406,3	MCF-7	breast:
5	chr8:66939552..66941809-chr8:67025937..67028911,2	K562	blood:
6	chr8:66932366..66933900-chr8:66939498..66941556,2	K562	blood:
7	chr8:66939130..66942548-chr8:66942805..66946877,6	MCF-7	breast:
8	chr8:66743264..66756293-chr8:66938648..66949139,49	MCF-7	breast:
9	chr8:66697287..66699597-chr8:66938827..66941499,2	MCF-7	breast:
10	chr8:66928177..66937337-chr8:66937383..66943347,17	MCF-7	breast:
11	chr8:66877498..66879065-chr8:66939086..66941564,2	MCF-7	breast:
12	chr8:66916676..66919243-chr8:66940181..66941759,2	MCF-7	breast:
13	chr8:66931688..66936639-chr8:66937276..66942801,8	MCF-7	breast:
14	chr8:66861177..66863828-chr8:66940545..66942693,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272192	Chromatin interaction
ENSG00000205268	Chromatin interaction
ENSG00000147570	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs11987232	1.00[ASN][1000 genomes]
rs11994535	0.83[ASN][1000 genomes]
rs11995869	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs16932389	0.93[EUR][1000 genomes]
rs16932391	0.81[EUR][1000 genomes]
rs16932394	0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs16932396	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs16932415	0.87[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs16932422	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932424	1.00[CEU][hapmap]
rs16932436	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs16932440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16932441	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2357662	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28671004	0.89[EUR][1000 genomes]
rs34178379	0.83[ASN][1000 genomes]
rs3922725	0.83[ASN][1000 genomes]
rs3922726	0.83[ASN][1000 genomes]
rs4636189	1.00[CEU][hapmap]
rs55636103	0.83[ASN][1000 genomes]
rs56200451	0.83[ASN][1000 genomes]
rs57033118	0.83[ASN][1000 genomes]
rs57633306	0.82[EUR][1000 genomes]
rs57896411	1.00[ASN][1000 genomes]
rs58122259	0.83[ASN][1000 genomes]
rs58165070	0.94[ASN][1000 genomes]
rs58407124	0.83[ASN][1000 genomes]
rs58423697	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58556742	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58681615	0.83[ASN][1000 genomes]
rs59321109	0.83[ASN][1000 genomes]
rs59436889	0.83[ASN][1000 genomes]
rs60109751	0.83[ASN][1000 genomes]
rs60866025	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60924938	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61038961	0.82[EUR][1000 genomes]
rs61357987	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61492394	0.83[ASN][1000 genomes]
rs6980631	0.83[ASN][1000 genomes]
rs6985305	0.81[EUR][1000 genomes]
rs6989783	0.91[EUR][1000 genomes]
rs6990185	0.81[EUR][1000 genomes]
rs6990672	0.81[EUR][1000 genomes]
rs6998320	0.81[EUR][1000 genomes]
rs6999945	0.83[ASN][1000 genomes]
rs7001192	0.81[EUR][1000 genomes]
rs7001442	0.87[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7005571	0.85[JPT][hapmap]
rs7006472	0.83[ASN][1000 genomes]
rs7009416	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7009487	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7010453	0.81[EUR][1000 genomes]
rs7010977	0.83[ASN][1000 genomes]
rs7011003	0.83[ASN][1000 genomes]
rs7014758	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs7016261	0.81[EUR][1000 genomes]
rs7017603	1.00[CEU][hapmap]
rs73237254	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73237256	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73237268	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73237302	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73247098	0.83[ASN][1000 genomes]
rs73248906	0.83[ASN][1000 genomes]
rs73248909	0.83[ASN][1000 genomes]
rs73248984	0.83[ASN][1000 genomes]
rs73252340	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7463507	0.83[ASN][1000 genomes]
rs7813023	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7814441	0.83[ASN][1000 genomes]
rs7815318	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7815325	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821744	0.85[JPT][hapmap]
rs7827556	1.00[CEU][hapmap]
rs7833724	0.83[ASN][1000 genomes]
rs9298108	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs953177	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9693171	0.81[EUR][1000 genomes]
rs9693187	0.81[EUR][1000 genomes]
rs9694791	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66933800-66944400	Weak transcription	Pancreas	Pancrea
2	chr8:66934000-66943800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:66934000-66944400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:66935400-66945800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:66938600-66941600	Enhancers	HMEC	breast
6	chr8:66938600-66941800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr8:66938600-66942400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:66938600-66943000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:66938600-66945800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr8:66938600-66946400	Enhancers	Fetal Thymus	thymus
11	chr8:66938600-66946600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr8:66938600-66946800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr8:66938800-66941400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:66938800-66945400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr8:66938800-66945600	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:66938800-66946400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:66939000-66942600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:66939000-66942800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:66939000-66944400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:66939200-66944400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:66939200-66944400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:66939400-66941600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:66939600-66941400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:66939600-66941400	Weak transcription	Spleen	Spleen
25	chr8:66939600-66944000	Weak transcription	NHDF-Ad	bronchial
26	chr8:66939600-66944400	Weak transcription	NHLF	lung
27	chr8:66939600-66952800	Weak transcription	Psoas Muscle	Psoas
28	chr8:66939800-66941800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:66940000-66941400	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr8:66940000-66941400	Weak transcription	GM12878-XiMat	blood
31	chr8:66940000-66944800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:66940000-66945000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:66940000-66945200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:66940200-66943600	Enhancers	Primary B cells from cord blood	blood
35	chr8:66940200-66946000	Enhancers	Thymus	Thymus
36	chr8:66940400-66941600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr8:66940400-66944600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:66940400-66945400	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:66940600-66941400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr8:66940600-66944400	Weak transcription	Hela-S3	cervix
41	chr8:66940800-66941400	Enhancers	Esophagus	oesophagus
42	chr8:66940800-66941600	Enhancers	Lung	lung
43	chr8:66940800-66942000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr8:66940800-66943200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr8:66940800-66944000	Weak transcription	A549	lung
46	chr8:66941000-66941800	Enhancers	NHEK	skin
47	chr8:66941000-66942400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:66941000-66943800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:66941000-66944600	Weak transcription	Placenta	Placenta
50	chr8:66941000-66945400	Weak transcription	Dnd41	blood

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