Variant report

Variant	rs6003522
Chromosome Location	chr22:23485348-23485349
allele	A/C/T
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	ZC3H11A	chr22:23484962-23485750	K562	blood:	n/a	n/a
2	STAT5A	chr22:23483430-23485376	K562	blood:	n/a	chr22:23484375-23484387

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:23484062..23485814-chr22:23485870..23488963,4	K562	blood:
2	chr22:23463055..23465071-chr22:23484358..23487240,2	K562	blood:

Variant related genes	Relation type
RAB36	TF binding region
RTDR1	TF binding region
ENSG00000100228	Chromatin interaction
ENSG00000100218	Chromatin interaction
ENSG00000128266	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12157412	1.00[AMR][1000 genomes]
rs12157536	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[AMR][1000 genomes]
rs12166415	1.00[AMR][1000 genomes]
rs2330366	1.00[AMR][1000 genomes]
rs5996469	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996472	1.00[AMR][1000 genomes]
rs5996477	1.00[AMR][1000 genomes]
rs5996479	1.00[AMR][1000 genomes]
rs5996480	1.00[AMR][1000 genomes]
rs5996481	1.00[AMR][1000 genomes]
rs5996482	1.00[AMR][1000 genomes]
rs5996484	1.00[AMR][1000 genomes]
rs6003521	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003523	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003524	1.00[AMR][1000 genomes]
rs6003526	1.00[AMR][1000 genomes]
rs6003528	1.00[AMR][1000 genomes]
rs6003530	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[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:30 , 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	nsv3573	chr22:23441543-23485820	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
27	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
28	esv1808801	chr22:23478573-23489042	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
29	esv1812488	chr22:23478573-23489042	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
30	esv1801510	chr22:23478611-23491000	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23479400-23487400	Weak transcription	Esophagus	oesophagus
2	chr22:23480000-23487000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr22:23482000-23486800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr22:23482200-23487000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr22:23482600-23485400	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr22:23483600-23485400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr22:23483600-23485400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr22:23483600-23487000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr22:23484200-23486000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr22:23484200-23487200	Weak transcription	Right Ventricle	heart
11	chr22:23484200-23487600	Weak transcription	Left Ventricle	heart
12	chr22:23484400-23486200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr22:23484400-23487000	Weak transcription	HSMMtube	muscle
14	chr22:23484400-23487600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr22:23484600-23485400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr22:23484600-23485400	Enhancers	Dnd41	blood
17	chr22:23484600-23485600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr22:23484600-23485800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr22:23484600-23486000	Enhancers	Thymus	Thymus
20	chr22:23484600-23486400	Weak transcription	Fetal Kidney	kidney
21	chr22:23484600-23486800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr22:23484600-23486800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr22:23484600-23486800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr22:23484600-23486800	Weak transcription	HMEC	breast
25	chr22:23484600-23486800	Weak transcription	NHEK	skin
26	chr22:23484600-23486800	Weak transcription	Osteobl	bone
27	chr22:23484600-23487000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:23484600-23487000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr22:23484600-23487000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr22:23484600-23487000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr22:23484600-23487000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr22:23484600-23487000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr22:23484600-23487000	Weak transcription	Fetal Heart	heart
34	chr22:23484600-23487000	Weak transcription	Ovary	ovary
35	chr22:23484600-23487000	Weak transcription	NH-A	brain
36	chr22:23484600-23487000	Weak transcription	NHDF-Ad	bronchial
37	chr22:23484600-23487000	Weak transcription	NHLF	lung
38	chr22:23484600-23487200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr22:23484600-23487200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr22:23484600-23487200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr22:23484600-23487200	Weak transcription	Fetal Lung	lung
42	chr22:23484600-23487200	Weak transcription	HSMM	muscle
43	chr22:23484600-23487600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr22:23484600-23487600	Weak transcription	Psoas Muscle	Psoas
45	chr22:23484800-23485400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:23484800-23485400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr22:23484800-23485400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr22:23484800-23485400	Enhancers	Fetal Intestine Large	intestine
49	chr22:23484800-23485400	Enhancers	Fetal Thymus	thymus
50	chr22:23484800-23486000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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