Variant report

Variant	rs8081144
Chromosome Location	chr17:37723291-37723292
allele	A/G
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:3)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37706135..37709402-chr17:37721294..37725015,3	K562	blood:
2	chr17:37712634..37715258-chr17:37722125..37724852,3	K562	blood:
3	chr17:37711283..37715258-chr17:37721967..37725007,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDK12-1	chr17:37723041-37723895	XLOC_012192
2	lnc-CDK12-1	chr17:37721013-37723798	XLOC_012192
3	lnc-CDK12-1	chr17:37723041-37723729	XLOC_012192
4	lnc-CDK12-1	chr17:37723041-37723799	XLOC_012192
5	lnc-CDK12-1	chr17:37723041-37723799	XLOC_012192
6	lnc-CDK12-1	chr17:37723047-37723597	NONHSAT053446
7	lnc-CDK12-1	chr17:37723041-37723814	NONHSAT053453
8	lnc-CDK12-1	chr17:37723041-37723814	NONHSAT053456
9	lnc-CDK12-1	chr17:37723041-37723812	NONHSAT053457

No data

Variant related genes	Relation type
ENSG00000167258	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs12943456	0.84[AFR][1000 genomes]
rs12944298	0.92[AFR][1000 genomes]
rs12950784	0.86[AFR][1000 genomes]
rs16965115	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs34079604	0.91[AFR][1000 genomes]
rs34207136	0.83[AFR][1000 genomes]
rs34458385	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34518049	1.00[ASW][hapmap];0.93[LWK][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs34745517	0.81[AFR][1000 genomes]
rs34910003	0.82[AFR][1000 genomes]
rs35270682	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35366897	1.00[ASW][hapmap];0.90[LWK][hapmap];0.95[YRI][hapmap]
rs35442489	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35499078	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap]
rs35598597	0.84[AFR][1000 genomes]
rs35701477	0.83[AFR][1000 genomes]
rs35829705	1.00[ASW][hapmap];0.90[LWK][hapmap];0.90[YRI][hapmap]
rs35929798	0.83[AFR][1000 genomes]
rs35986399	0.83[AFR][1000 genomes]
rs36025330	0.92[AFR][1000 genomes]
rs36172452	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887260	0.81[EUR][1000 genomes]
rs4252612	0.80[CEU][hapmap]
rs4404103	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs4611492	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4988981	0.91[AFR][1000 genomes]
rs55976670	0.87[ASN][1000 genomes]
rs56277614	0.81[EUR][1000 genomes]
rs56301513	0.82[EUR][1000 genomes]
rs57009492	0.87[ASN][1000 genomes]
rs57059040	0.92[AFR][1000 genomes]
rs58452873	0.90[AFR][1000 genomes]
rs60403655	0.87[ASN][1000 genomes]
rs6503512	0.95[YRI][hapmap]
rs67466585	0.87[ASN][1000 genomes]
rs67966109	0.87[ASN][1000 genomes]
rs71369773	0.84[AFR][1000 genomes]
rs71369774	0.88[AFR][1000 genomes]
rs71369775	0.91[AFR][1000 genomes]
rs7218668	1.00[ASW][hapmap];0.93[LWK][hapmap];0.95[YRI][hapmap]
rs7219611	1.00[ASW][hapmap];0.93[LWK][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes]
rs7219683	0.93[AFR][1000 genomes]
rs7224847	0.91[AFR][1000 genomes]
rs7226222	0.93[LWK][hapmap];0.95[YRI][hapmap]
rs72827114	0.93[EUR][1000 genomes]
rs72827126	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72827138	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827139	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827140	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827159	0.82[EUR][1000 genomes]
rs72827162	0.81[EUR][1000 genomes]
rs8073144	1.00[ASW][hapmap];0.93[LWK][hapmap];0.95[YRI][hapmap]
rs8076041	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs8076843	1.00[ASW][hapmap];0.93[LWK][hapmap];0.91[YRI][hapmap]
rs8077259	1.00[ASW][hapmap];0.93[LWK][hapmap];0.95[YRI][hapmap]
rs8077629	0.90[ASW][hapmap];0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers 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	72 gene(s)	inside rSNPs	diseases
3	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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	78 gene(s)	inside rSNPs	diseases
4	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
8	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37687800-37729800	Weak transcription	Small Intestine	intestine
2	chr17:37695400-37727400	Weak transcription	K562	blood
3	chr17:37700200-37725800	Strong transcription	Placenta	Placenta
4	chr17:37701000-37728800	Strong transcription	Liver	Liver
5	chr17:37701200-37727600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr17:37705200-37727000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr17:37705200-37727600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr17:37706800-37727200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:37707200-37725400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr17:37707600-37724400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr17:37707600-37724600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr17:37708800-37729400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr17:37710200-37727000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:37710400-37726800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:37710400-37729400	Weak transcription	HMEC	breast
16	chr17:37710400-37729600	Weak transcription	NHEK	skin
17	chr17:37710800-37730400	Weak transcription	Stomach Mucosa	stomach
18	chr17:37713000-37729200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr17:37713200-37729600	Weak transcription	NHDF-Ad	bronchial
20	chr17:37713600-37725400	Weak transcription	Colonic Mucosa	Colon
21	chr17:37714000-37729600	Weak transcription	NHLF	lung
22	chr17:37714600-37727400	Weak transcription	Dnd41	blood
23	chr17:37714600-37728600	Weak transcription	Brain Angular Gyrus	brain
24	chr17:37714600-37729600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr17:37715600-37726800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr17:37716200-37727800	Strong transcription	Primary T cells from cord blood	blood
27	chr17:37716400-37723400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr17:37718200-37723400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr17:37719000-37726000	Strong transcription	Thymus	Thymus
30	chr17:37719000-37727000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr17:37719400-37726200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr17:37719600-37727600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:37719600-37729600	Weak transcription	HUVEC	blood vessel
34	chr17:37719800-37726800	Strong transcription	Spleen	Spleen
35	chr17:37720000-37727200	Strong transcription	Lung	lung
36	chr17:37720000-37729600	Weak transcription	NH-A	brain
37	chr17:37720200-37725800	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr17:37720200-37727600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr17:37720200-37727800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr17:37720400-37725600	Strong transcription	Adipose Nuclei	Adipose
41	chr17:37720400-37726000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr17:37720400-37726400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr17:37720400-37726600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr17:37720400-37726600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr17:37720400-37727400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr17:37720400-37729200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr17:37720400-37729600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr17:37720400-37730200	Enhancers	Fetal Brain Male	brain
49	chr17:37720600-37724800	Strong transcription	Osteobl	bone
50	chr17:37720600-37726400	Strong transcription	Primary T cells fromperipheralblood	blood

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