Variant report

Variant	rs72666629
Chromosome Location	chr8:99543556-99543557
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr8:99543429-99543836	HCT-116	colon:	n/a	n/a
2	CBX3	chr8:99543471-99544159	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:99542982..99544707-chr8:99547158..99548868,2	K562	blood:
2	chr8:99542843..99544364-chr8:99551083..99552848,2	K562	blood:
3	chr8:99542296..99548423-chr8:99550336..99556395,6	K562	blood:

Variant related genes	Relation type
STK3	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10282835	1.00[ASN][1000 genomes]
rs11785588	1.00[ASN][1000 genomes]
rs12386830	1.00[ASN][1000 genomes]
rs13277523	1.00[ASN][1000 genomes]
rs16896995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28621642	1.00[ASN][1000 genomes]
rs34018826	1.00[ASN][1000 genomes]
rs4554439	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4574821	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4615538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55793219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55807423	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55921088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55947965	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56099380	1.00[ASN][1000 genomes]
rs56185259	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56246659	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56290864	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56356780	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666638	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666642	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666643	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666649	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666652	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666655	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666661	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666665	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666666	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666673	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666676	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666678	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666680	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666684	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666685	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666688	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666689	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666690	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666699	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73699303	1.00[ASN][1000 genomes]
rs7835203	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839115	1.00[ASN][1000 genomes]
rs7842869	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv891219	chr8:99526819-99643487	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99490400-99547600	Weak transcription	Ovary	ovary
2	chr8:99500400-99558800	Weak transcription	Aorta	Aorta
3	chr8:99515000-99550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:99518800-99551000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:99519000-99548400	Weak transcription	Fetal Stomach	stomach
6	chr8:99525800-99576400	Weak transcription	Pancreas	Pancrea
7	chr8:99526200-99549400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:99531000-99569600	Weak transcription	HMEC	breast
9	chr8:99531200-99561800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:99531400-99586400	Weak transcription	HSMM	muscle
11	chr8:99531600-99561800	Weak transcription	Esophagus	oesophagus
12	chr8:99532000-99543600	Weak transcription	Psoas Muscle	Psoas
13	chr8:99532000-99548000	Weak transcription	HSMMtube	muscle
14	chr8:99533400-99566400	Weak transcription	NHLF	lung
15	chr8:99534600-99567200	Weak transcription	A549	lung
16	chr8:99534800-99543600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:99534800-99549800	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:99535400-99571600	Weak transcription	Gastric	stomach
19	chr8:99536800-99545000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:99539000-99543600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:99539200-99548200	Weak transcription	NHDF-Ad	bronchial
22	chr8:99539200-99553000	Weak transcription	HepG2	liver
23	chr8:99541800-99543800	Strong transcription	Liver	Liver
24	chr8:99542000-99544600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:99542000-99546600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:99542200-99544600	Weak transcription	HUVEC	blood vessel
27	chr8:99542200-99545600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:99542600-99543600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:99542600-99543600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:99542600-99544000	Strong transcription	Placenta	Placenta
31	chr8:99542600-99544200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:99542600-99544600	Strong transcription	Left Ventricle	heart
33	chr8:99542600-99545000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr8:99542600-99546000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr8:99542600-99546600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:99542800-99543600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr8:99542800-99543800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:99542800-99543800	ZNF genes & repeats	K562	blood
39	chr8:99542800-99544000	ZNF genes & repeats	Fetal Kidney	kidney
40	chr8:99542800-99544000	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:99542800-99544400	Strong transcription	NHEK	skin
42	chr8:99542800-99544800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr8:99542800-99546400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:99543000-99543800	Strong transcription	Adipose Nuclei	Adipose
45	chr8:99543000-99543800	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:99543000-99544000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:99543000-99544200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr8:99543000-99544600	ZNF genes & repeats	Fetal Muscle Leg	muscle
49	chr8:99543000-99544600	ZNF genes & repeats	GM12878-XiMat	blood
50	chr8:99543000-99544800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links