Variant report

Variant	rs28635872
Chromosome Location	chr22:30297546-30297547
allele	A/G
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	CEBPB	chr22:30297366-30297631	K562	blood:	n/a	n/a
2	CEBPB	chr22:30297405-30297626	K562	blood:	n/a	n/a
3	CEBPB	chr22:30297362-30297676	K562	blood:	n/a	n/a
4	JUND	chr22:30297520-30297671	K562	blood:	n/a	n/a
5	SPI1	chr22:30297307-30297806	HL-60	blood:	n/a	n/a
6	MAX	chr22:30297426-30297673	NB4	blood:	n/a	chr22:30297502-30297512
7	MYC	chr22:30297476-30297654	K562	blood:	n/a	chr22:30297502-30297512

Variant related genes	Relation type
RNU6-331P	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10222281	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10483156	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11090584	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11090591	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11090592	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11090597	0.81[AMR][1000 genomes]
rs11703553	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11703815	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11704885	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11705191	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11705207	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11705418	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12165769	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12166087	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166755	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12166998	0.81[AMR][1000 genomes]
rs12169823	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12330007	0.84[AMR][1000 genomes]
rs12330076	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12627856	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12628395	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17644868	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17644886	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17647135	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17713646	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28520101	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34647160	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3747148	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788418	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788425	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7285169	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs737905	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs737906	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs737907	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs739615	0.81[AMR][1000 genomes]
rs9620928	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620929	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620935	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9620936	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9620944	0.81[AMR][1000 genomes]
rs9620948	0.81[AMR][1000 genomes]
rs9625883	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625886	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625887	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625889	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625894	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9625895	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9625896	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9625899	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9625910	0.81[AMR][1000 genomes]
rs9625914	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv829161	chr22:30276811-30298332	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv829162	chr22:30276811-30298761	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv11554	chr22:30280400-30298271	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1830801	chr22:30292682-30299797	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1833074	chr22:30294744-30300521	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30280200-30303800	Weak transcription	Aorta	Aorta
2	chr22:30280800-30303600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr22:30281000-30303000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr22:30281000-30303200	Weak transcription	Fetal Muscle Leg	muscle
5	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr22:30281600-30303400	Weak transcription	Fetal Intestine Small	intestine
7	chr22:30281800-30299000	Weak transcription	Spleen	Spleen
8	chr22:30281800-30300200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:30282000-30297600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr22:30282200-30303000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr22:30282200-30303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr22:30282200-30310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr22:30282600-30300000	Weak transcription	Small Intestine	intestine
14	chr22:30282600-30303400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr22:30283800-30299000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr22:30283800-30300000	Weak transcription	Stomach Mucosa	stomach
17	chr22:30283800-30307000	Weak transcription	Esophagus	oesophagus
18	chr22:30284000-30299800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr22:30284000-30303600	Weak transcription	Brain Angular Gyrus	brain
20	chr22:30284400-30303800	Weak transcription	Pancreas	Pancrea
21	chr22:30287000-30301000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr22:30290400-30299000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr22:30290400-30312000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr22:30290800-30300000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr22:30291000-30299800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr22:30291000-30303600	Weak transcription	Colon Smooth Muscle	Colon
28	chr22:30293800-30299000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:30294000-30297600	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr22:30294800-30297600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr22:30294800-30299000	Weak transcription	Lung	lung
32	chr22:30294800-30299000	Weak transcription	Ovary	ovary
33	chr22:30294800-30299400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr22:30294800-30300000	Weak transcription	Right Atrium	heart
35	chr22:30294800-30300000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr22:30294800-30301000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr22:30294800-30302000	Weak transcription	Right Ventricle	heart
38	chr22:30294800-30303400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr22:30294800-30303800	Weak transcription	Fetal Stomach	stomach
40	chr22:30295200-30300000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr22:30295400-30299400	Weak transcription	Left Ventricle	heart
42	chr22:30295400-30300000	Weak transcription	Gastric	stomach
43	chr22:30295400-30303400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr22:30295800-30297600	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr22:30295800-30300000	Weak transcription	Psoas Muscle	Psoas
46	chr22:30295800-30303200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr22:30296000-30303800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr22:30296200-30300200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr22:30296600-30305600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr22:30297000-30303800	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links