Variant report

Variant	rs7288943
Chromosome Location	chr22:23548101-23548102
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:23521786..23525383-chr22:23547391..23550599,5	MCF-7	breast:
2	chr22:23537013..23539168-chr22:23545643..23548469,2	MCF-7	breast:
3	chr22:23547111..23549576-chr22:23551724..23554199,2	MCF-7	breast:
4	chr22:23545762..23547957-chr22:23547982..23550175,2	MCF-7	breast:
5	chr22:23545631..23548441-chr22:23603953..23606039,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230701	Chromatin interaction
ENSG00000186716	Chromatin interaction
ENSG00000236794	Chromatin interaction
ENSG00000240160	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11702988	1.00[ASN][1000 genomes]
rs11703730	1.00[ASN][1000 genomes]
rs11704318	1.00[ASN][1000 genomes]
rs12157290	1.00[ASN][1000 genomes]
rs12160795	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16998648	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs28742008	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs5996486	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996487	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5996489	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5996491	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5996493	1.00[ASN][1000 genomes]
rs5996494	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996495	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs5996496	1.00[ASN][1000 genomes]
rs6003552	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6003553	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6003554	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6003555	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6003557	0.90[AMR][1000 genomes]
rs6003559	0.90[AMR][1000 genomes]
rs6003560	0.90[AMR][1000 genomes]
rs6003561	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6003566	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003567	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003568	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003569	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6003576	1.00[ASN][1000 genomes]
rs62219783	1.00[ASN][1000 genomes]
rs7284383	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7285367	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7286520	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7286963	1.00[ASN][1000 genomes]
rs7287313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7287429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7289320	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7290258	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7290260	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7290275	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7290643	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7291888	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7292343	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8136130	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8137379	1.00[ASN][1000 genomes]
rs8138947	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8139366	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8141268	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8142547	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9608087	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23526400-23560800	Weak transcription	A549	lung
2	chr22:23529600-23552800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr22:23530400-23558800	Weak transcription	Small Intestine	intestine
4	chr22:23530600-23557200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr22:23535000-23556000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr22:23535800-23559400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr22:23536000-23557200	Weak transcription	Hela-S3	cervix
8	chr22:23536200-23549800	Weak transcription	GM12878-XiMat	blood
9	chr22:23536400-23557600	Weak transcription	NHLF	lung
10	chr22:23536400-23557800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr22:23536600-23557600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:23541800-23548200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:23542000-23552600	Strong transcription	K562	blood
14	chr22:23542000-23554000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:23542000-23554400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr22:23542200-23557200	Weak transcription	NH-A	brain
17	chr22:23542400-23549800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:23542400-23552600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr22:23542400-23557600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr22:23543600-23552200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr22:23544400-23550600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:23544600-23548200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:23544800-23554400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr22:23545000-23553200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr22:23545200-23548200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr22:23545200-23548200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr22:23545200-23548400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr22:23545200-23548400	Enhancers	Brain Anterior Caudate	brain
29	chr22:23545200-23548600	Strong transcription	Primary T cells from cord blood	blood
30	chr22:23545200-23548600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr22:23545200-23548600	Enhancers	Brain Hippocampus Middle	brain
32	chr22:23545200-23549000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr22:23545200-23550400	Strong transcription	Thymus	Thymus
34	chr22:23545200-23550600	Strong transcription	Dnd41	blood
35	chr22:23545200-23550800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr22:23545400-23548200	Enhancers	Brain Angular Gyrus	brain
37	chr22:23545400-23548200	Enhancers	Fetal Brain Female	brain
38	chr22:23545400-23548200	Enhancers	Fetal Heart	heart
39	chr22:23545400-23548200	Genic enhancers	Right Atrium	heart
40	chr22:23545400-23548400	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr22:23545400-23548400	Enhancers	Brain Cingulate Gyrus	brain
42	chr22:23545400-23548400	Enhancers	Colon Smooth Muscle	Colon
43	chr22:23545400-23548400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr22:23545400-23550200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr22:23545600-23548200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:23545600-23548400	Enhancers	Liver	Liver
47	chr22:23545600-23548400	Enhancers	Brain Substantia Nigra	brain
48	chr22:23545600-23549600	Strong transcription	Primary hematopoietic stem cells	blood
49	chr22:23545800-23548200	Enhancers	Left Ventricle	heart
50	chr22:23545800-23548200	Enhancers	Right Ventricle	heart

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