Variant report

Variant	rs6003591
Chromosome Location	chr22:23597103-23597104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:23592897..23595118-chr22:23596065..23598461,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186716	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11704376	0.90[EUR][1000 genomes]
rs11704598	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11704766	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11912632	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11912657	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11912682	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11913665	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13054277	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13054840	0.90[EUR][1000 genomes]
rs17611266	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35837404	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5759665	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs5759666	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs5996507	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5996511	1.00[ASN][1000 genomes]
rs6003584	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6003586	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6003587	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6003594	1.00[ASN][1000 genomes]
rs6003595	1.00[ASN][1000 genomes]
rs62219795	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7289192	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7291469	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs743584	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8139664	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8141608	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8141706	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs928780	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs928781	0.86[AMR][1000 genomes]
rs9608091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608094	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9608095	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9608097	0.89[EUR][1000 genomes]
rs9608101	0.87[EUR][1000 genomes]
rs9612266	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9612267	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9612268	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9612270	0.90[EUR][1000 genomes]
rs9612272	0.90[EUR][1000 genomes]
rs9612273	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9612275	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9612276	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9612277	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9612281	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	nsv588598	chr22:23530168-23638025	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
25	nsv9876	chr22:23563331-23923059	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
26	nsv482557	chr22:23584948-23741799	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
27	nsv531550	chr22:23589667-24012550	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
28	esv2762117	chr22:23592136-23996869	Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Weak 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 target site	37 gene(s)	inside rSNPs	diseases
29	nsv1063476	chr22:23596683-23989388	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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 target site	36 gene(s)	inside rSNPs	diseases
30	nsv544617	chr22:23596683-23989388	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh 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 target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23585800-23605600	Weak transcription	Fetal Lung	lung
2	chr22:23587400-23597400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:23587800-23598000	Weak transcription	Colon Smooth Muscle	Colon
4	chr22:23588800-23598800	Weak transcription	HSMM	muscle
5	chr22:23590800-23598800	Weak transcription	Small Intestine	intestine
6	chr22:23591000-23597800	Strong transcription	Right Atrium	heart
7	chr22:23591000-23598600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr22:23591000-23615800	Weak transcription	NH-A	brain
9	chr22:23591200-23597400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr22:23591200-23599400	Weak transcription	Osteobl	bone
11	chr22:23591200-23604000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:23592800-23603800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr22:23593000-23618000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr22:23594000-23598800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr22:23594200-23598400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr22:23594400-23597400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr22:23594400-23597600	Weak transcription	GM12878-XiMat	blood
18	chr22:23594400-23597800	Weak transcription	Fetal Heart	heart
19	chr22:23594400-23597800	Weak transcription	Stomach Mucosa	stomach
20	chr22:23594400-23598400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr22:23594400-23611800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr22:23594400-23614200	Weak transcription	A549	lung
23	chr22:23594600-23597200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr22:23594600-23598800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:23594600-23598800	Weak transcription	NHDF-Ad	bronchial
26	chr22:23594800-23601000	Strong transcription	Primary T cells from cord blood	blood
27	chr22:23594800-23601600	Strong transcription	Primary hematopoietic stem cells	blood
28	chr22:23595000-23598000	Strong transcription	Fetal Stomach	stomach
29	chr22:23595000-23599400	Genic enhancers	Fetal Thymus	thymus
30	chr22:23595000-23604600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:23595000-23610800	Strong transcription	K562	blood
32	chr22:23595000-23612200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr22:23595000-23612200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr22:23595000-23647000	Strong transcription	Dnd41	blood
35	chr22:23595200-23597600	Strong transcription	Fetal Intestine Small	intestine
36	chr22:23595200-23598200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr22:23595200-23598400	Strong transcription	HepG2	liver
38	chr22:23595200-23600600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr22:23595200-23623600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr22:23595400-23597400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr22:23595400-23597800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr22:23595400-23598600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr22:23595400-23623800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr22:23595600-23597600	Strong transcription	Gastric	stomach
45	chr22:23595600-23597800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr22:23595600-23598000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr22:23595600-23598000	Strong transcription	NHEK	skin
48	chr22:23595600-23598200	Strong transcription	Fetal Intestine Large	intestine
49	chr22:23595600-23598800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr22:23595600-23607200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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