Variant report

Variant	rs12483810
Chromosome Location	chr22:23605522-23605523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:23605374-23608089	K562	blood:	n/a	n/a
2	POLR2A	chr22:23605407-23605572	HUVEC	blood vessel:	n/a	n/a
3	CCNT2	chr22:23605282-23605806	K562	blood:	n/a	n/a
4	HMGN3	chr22:23604995-23605683	K562	blood:	n/a	n/a
5	GABPA	chr22:23604671-23605646	K562	blood:	n/a	n/a
6	POLR2A	chr22:23605305-23605571	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr22:23605436-23605587	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr22:23605341-23605788	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr22:23604082-23607119	K562	blood:	n/a	n/a
10	THAP1	chr22:23605012-23605954	K562	blood:	n/a	n/a
11	POLR2A	chr22:23601916-23608354	K562	blood:	n/a	n/a
12	POLR2A	chr22:23605515-23605740	HepG2	liver:	n/a	n/a
13	MAX	chr22:23605245-23605599	K562	blood:	n/a	n/a
14	POLR2A	chr22:23604847-23605537	K562	blood:	n/a	n/a
15	SP2	chr22:23605478-23606358	K562	blood:	n/a	n/a
16	POLR2A	chr22:23603966-23607216	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:23521575..23523250-chr22:23605169..23607302,2	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SL263P	TF binding region
ENSG00000186716	Chromatin interaction
ENSG00000236794	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12483835	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12484271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12484302	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12484705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12484731	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12485011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35537221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5996513	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7288846	1.00[ASN][1000 genomes]
rs9620234	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9620235	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 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
31	nsv1059951	chr22:23597270-23973060	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
32	nsv1060339	chr22:23603429-23984195	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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
33	nsv544618	chr22:23603429-23984195	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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

No data

Chromatin state (count:125 , 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	chr22:23591000-23615800	Weak transcription	NH-A	brain
3	chr22:23593000-23618000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr22:23594400-23611800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr22:23594400-23614200	Weak transcription	A549	lung
6	chr22:23595000-23610800	Strong transcription	K562	blood
7	chr22:23595000-23612200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:23595000-23612200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:23595000-23647000	Strong transcription	Dnd41	blood
10	chr22:23595200-23623600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr22:23595400-23623800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr22:23595600-23607200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr22:23595600-23609200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr22:23595600-23619200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr22:23595600-23623600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:23595800-23608200	Strong transcription	Thymus	Thymus
17	chr22:23595800-23609000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr22:23595800-23611600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:23595800-23621000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr22:23595800-23623400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr22:23595800-23649600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr22:23596000-23608200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr22:23597800-23606600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr22:23597800-23611400	Weak transcription	Fetal Kidney	kidney
25	chr22:23598400-23608400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr22:23599400-23607800	Strong transcription	HepG2	liver
27	chr22:23599400-23609400	Strong transcription	Fetal Thymus	thymus
28	chr22:23599400-23635000	Weak transcription	Small Intestine	intestine
29	chr22:23599600-23623000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr22:23599800-23608000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:23600000-23605600	Weak transcription	NHDF-Ad	bronchial
32	chr22:23600000-23605800	Weak transcription	HSMM	muscle
33	chr22:23600000-23606000	Weak transcription	Brain Hippocampus Middle	brain
34	chr22:23600000-23608000	Strong transcription	NHEK	skin
35	chr22:23600200-23605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr22:23600200-23632000	Strong transcription	Fetal Intestine Small	intestine
37	chr22:23600400-23607400	Strong transcription	Right Atrium	heart
38	chr22:23600400-23608200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr22:23600600-23606600	Weak transcription	Stomach Mucosa	stomach
40	chr22:23600800-23619200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr22:23600800-23619800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr22:23601200-23605600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr22:23601200-23623800	Weak transcription	Fetal Brain Male	brain
44	chr22:23601400-23605800	Weak transcription	HMEC	breast
45	chr22:23601600-23610800	Weak transcription	Colon Smooth Muscle	Colon
46	chr22:23601800-23606600	Strong transcription	Brain Cingulate Gyrus	brain
47	chr22:23601800-23607200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr22:23601800-23641000	Strong transcription	Primary T cells from cord blood	blood
49	chr22:23602200-23607400	Strong transcription	Right Ventricle	heart
50	chr22:23602200-23608200	Strong transcription	Fetal Brain Female	brain

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