Variant report

Variant	rs6003524
Chromosome Location	chr22:23493134-23493135
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12157412	1.00[AMR][1000 genomes]
rs12157536	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12157941	1.00[AMR][1000 genomes]
rs12158986	1.00[AMR][1000 genomes]
rs12159793	1.00[AMR][1000 genomes]
rs12160027	1.00[AMR][1000 genomes]
rs12160099	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12166415	1.00[AMR][1000 genomes]
rs2330366	1.00[AMR][1000 genomes]
rs5996469	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996472	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996477	1.00[AMR][1000 genomes]
rs5996479	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs5996480	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs5996481	1.00[AMR][1000 genomes]
rs5996482	1.00[AMR][1000 genomes]
rs5996484	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6003521	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003522	1.00[AMR][1000 genomes]
rs6003523	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003526	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003528	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6003530	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003537	1.00[AMR][1000 genomes]
rs6003538	1.00[AMR][1000 genomes]
rs6003539	1.00[AMR][1000 genomes]
rs6003540	1.00[AMR][1000 genomes]
rs6003541	1.00[AMR][1000 genomes]
rs6003542	1.00[AMR][1000 genomes]
rs6003543	1.00[AMR][1000 genomes]
rs6003545	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6003546	1.00[AMR][1000 genomes]
rs6003548	1.00[AMR][1000 genomes]
rs6003549	1.00[AMR][1000 genomes]
rs9620191	1.00[AMR][1000 genomes]
rs9620237	1.00[AMR][1000 genomes]
rs9623975	1.00[AMR][1000 genomes]
rs9623976	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803110	chr22:22731758-23497674	Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv915235	chr22:22971768-23650987	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
3	esv3388845	chr22:22973346-23652447	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	100 gene(s)	inside rSNPs	diseases
4	nsv531799	chr22:22993679-23642142	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
5	nsv1061433	chr22:22997799-23649107	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
6	nsv521695	chr22:22998337-23648009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	nsv915236	chr22:22998337-23650987	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
8	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
9	nsv531800	chr22:23002708-23648163	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
10	nsv916593	chr22:23002709-23648790	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer 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 miRNA	97 gene(s)	inside rSNPs	diseases
11	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
12	nsv1067002	chr22:23007167-23643363	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS 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 miRNA	97 gene(s)	inside rSNPs	diseases
13	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
14	nsv533839	chr22:23012013-23643223	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
15	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
16	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	92 gene(s)	inside rSNPs	diseases
17	nsv531802	chr22:23046186-23627391	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	diseases
18	nsv1060509	chr22:23055148-23648719	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS 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 miRNA	83 gene(s)	inside rSNPs	diseases
19	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer 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 miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
20	nsv1062780	chr22:23060449-23648719	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
21	nsv948942	chr22:23063178-23645718	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
22	nsv1063200	chr22:23097177-23643224	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
23	nsv949250	chr22:23157485-23645718	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
24	esv34158	chr22:23216762-23499513	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
25	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
26	nsv544616	chr22:23474827-23495231	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23487800-23499000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr22:23488000-23499400	Weak transcription	Right Ventricle	heart
3	chr22:23488200-23494600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr22:23488200-23505800	Weak transcription	HSMMtube	muscle
5	chr22:23488400-23493200	Weak transcription	Colon Smooth Muscle	Colon
6	chr22:23488400-23493400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr22:23488400-23493400	Weak transcription	Fetal Brain Female	brain
8	chr22:23488400-23494800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr22:23488400-23495000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr22:23488400-23499000	Weak transcription	Colonic Mucosa	Colon
11	chr22:23488400-23499000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr22:23488400-23499200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr22:23488400-23505800	Weak transcription	Brain Substantia Nigra	brain
14	chr22:23488600-23493200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr22:23488600-23505800	Weak transcription	Brain Germinal Matrix	brain
16	chr22:23488600-23506800	Weak transcription	A549	lung
17	chr22:23488800-23505400	Weak transcription	Fetal Brain Male	brain
18	chr22:23489000-23494400	Weak transcription	GM12878-XiMat	blood
19	chr22:23489000-23496400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:23489200-23494200	Weak transcription	Spleen	Spleen
21	chr22:23489200-23497400	Weak transcription	Fetal Kidney	kidney
22	chr22:23489200-23499800	Weak transcription	NHLF	lung
23	chr22:23489800-23498400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:23490200-23496800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr22:23490200-23500200	Weak transcription	Fetal Lung	lung
26	chr22:23490200-23504800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:23490400-23493200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr22:23490400-23493600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr22:23490400-23498400	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr22:23490400-23499000	Weak transcription	Stomach Mucosa	stomach
31	chr22:23490400-23506800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr22:23490400-23522000	Weak transcription	Aorta	Aorta
33	chr22:23490600-23493800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr22:23490600-23494000	Weak transcription	NHEK	skin
35	chr22:23490600-23498600	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr22:23490800-23493200	Genic enhancers	Placenta	Placenta
37	chr22:23491000-23493400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr22:23491000-23498000	Weak transcription	Gastric	stomach
39	chr22:23491000-23504600	Strong transcription	Stomach Smooth Muscle	stomach
40	chr22:23491200-23512000	Strong transcription	Right Atrium	heart
41	chr22:23491400-23494200	Weak transcription	Pancreas	Pancrea
42	chr22:23491400-23494600	Enhancers	Primary B cells from cord blood	blood
43	chr22:23491600-23494400	Strong transcription	Brain Anterior Caudate	brain
44	chr22:23491800-23494000	Strong transcription	Fetal Intestine Small	intestine
45	chr22:23491800-23494400	Strong transcription	Ovary	ovary
46	chr22:23491800-23499400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr22:23492000-23493600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr22:23492000-23494200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr22:23492000-23494600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr22:23492000-23494600	Enhancers	HepG2	liver

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