Variant report

Variant	rs16998450
Chromosome Location	chr22:23535698-23535699
allele	A/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	POLR2A	chr22:23533624-23536364	K562	blood:	n/a	n/a
2	HCFC1	chr22:23535656-23536039	K562	blood:	n/a	n/a
3	POLR2A	chr22:23533641-23536437	K562	blood:	n/a	n/a
4	POLR2A	chr22:23533374-23536544	K562	blood:	n/a	n/a
5	SP2	chr22:23533824-23536358	K562	blood:	n/a	n/a
6	POLR2A	chr22:23534106-23536366	K562	blood:	n/a	n/a
7	RFX5	chr22:23535327-23535967	K562	blood:	n/a	n/a
8	CEBPB	chr22:23535642-23536156	K562	blood:	n/a	chr22:23535829-23535842 chr22:23535829-23535840
9	HDAC2	chr22:23533672-23536400	K562	blood:	n/a	chr22:23536067-23536076 chr22:23534455-23534463
10	THAP1	chr22:23535388-23536299	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:23534672..23537015-chr22:23540407..23542512,3	MCF-7	breast:
2	chr22:23520992..23525924-chr22:23533484..23536719,11	MCF-7	breast:
3	chr22:23534323..23535865-chr22:23538315..23540375,2	MCF-7	breast:
4	chr22:23534743..23537175-chr22:23572328..23575055,2	MCF-7	breast:
5	chr22:23533236..23535920-chr22:23537412..23541871,4	MCF-7	breast:
6	chr22:23533489..23536061-chr22:23622372..23624122,2	MCF-7	breast:

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

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1004932	0.85[AMR][1000 genomes]
rs10427901	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13340074	1.00[MEX][hapmap]
rs13433645	0.85[AMR][1000 genomes]
rs16997606	0.86[ASW][hapmap];1.00[MEX][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs16998453	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16998664	0.86[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[AFR][1000 genomes]
rs16998934	1.00[MEX][hapmap]
rs28550289	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28637025	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28709343	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003517	0.85[AMR][1000 genomes]
rs62220910	0.85[AMR][1000 genomes]
rs7284641	0.87[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7286872	1.00[AMR][1000 genomes]
rs7287068	1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs7290653	1.00[AMR][1000 genomes]
rs7291739	1.00[AMR][1000 genomes]
rs8142831	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8143110	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9624021	0.85[AMR][1000 genomes]
rs9624024	0.85[AMR][1000 genomes]
rs9624025	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	nsv1058604	chr22:23497533-23545751	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
25	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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23526000-23546000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr22:23526200-23535800	Weak transcription	Aorta	Aorta
3	chr22:23526200-23546800	Weak transcription	Colonic Mucosa	Colon
4	chr22:23526400-23536000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr22:23526400-23560800	Weak transcription	A549	lung
6	chr22:23527000-23536000	Weak transcription	HMEC	breast
7	chr22:23527000-23541400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr22:23527000-23547200	Weak transcription	Fetal Kidney	kidney
9	chr22:23527200-23536000	Weak transcription	HSMM	muscle
10	chr22:23527200-23545400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr22:23527200-23547000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr22:23527400-23545400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr22:23527600-23541200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr22:23527600-23544200	Strong transcription	Fetal Intestine Small	intestine
15	chr22:23528400-23540600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr22:23529000-23542400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr22:23529400-23536400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr22:23529600-23552800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr22:23530000-23536200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr22:23530000-23536400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr22:23530200-23545200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr22:23530400-23535800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:23530400-23545600	Weak transcription	Liver	Liver
24	chr22:23530400-23558800	Weak transcription	Small Intestine	intestine
25	chr22:23530600-23535800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr22:23530600-23535800	Weak transcription	HSMMtube	muscle
27	chr22:23530600-23536000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr22:23530600-23545400	Weak transcription	Colon Smooth Muscle	Colon
29	chr22:23530600-23557200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr22:23530800-23535800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr22:23530800-23535800	Weak transcription	Brain Substantia Nigra	brain
32	chr22:23530800-23536000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr22:23530800-23536000	Weak transcription	NHLF	lung
34	chr22:23530800-23536400	Strong transcription	Dnd41	blood
35	chr22:23530800-23539800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:23530800-23540000	Weak transcription	Ovary	ovary
37	chr22:23530800-23540600	Weak transcription	NH-A	brain
38	chr22:23530800-23540800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr22:23530800-23545200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr22:23530800-23545200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr22:23530800-23545600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr22:23531000-23538400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr22:23531800-23536200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr22:23532000-23536000	Enhancers	Right Ventricle	heart
45	chr22:23532000-23536200	Enhancers	Left Ventricle	heart
46	chr22:23532800-23535800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr22:23533000-23539000	Weak transcription	Fetal Intestine Large	intestine
48	chr22:23533200-23536400	Strong transcription	Primary B cells from cord blood	blood
49	chr22:23533600-23536000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr22:23533600-23536200	Strong transcription	GM12878-XiMat	blood

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