Variant report

Variant	rs73878933
Chromosome Location	chr22:23876941-23876942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:23875211..23877435-chr22:24108906..24110588,2	MCF-7	breast:
2	chr22:23874575..23877000-chr22:23881592..23883408,2	K562	blood:
3	chr22:23868145..23870086-chr22:23875004..23877580,2	K562	blood:
4	chr22:23875208..23878117-chr22:23883264..23885311,3	MCF-7	breast:
5	chr22:23870628..23873607-chr22:23875674..23878639,2	MCF-7	breast:
6	chr22:23874366..23877000-chr22:23881592..23884762,3	K562	blood:
7	chr22:23868112..23870086-chr22:23875004..23877580,3	K562	blood:

Variant related genes	Relation type
ENSG00000099953	Chromatin interaction
ENSG00000250479	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7289401	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv1059384	chr22:23614429-23984195	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv544619	chr22:23614429-23984195	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking 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	34 gene(s)	inside rSNPs	diseases
12	nsv588601	chr22:23632665-23979219	Bivalent Enhancer Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised 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	30 gene(s)	inside rSNPs	diseases
13	nsv914579	chr22:23650987-23995056	Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	nsv914581	chr22:23720420-23995056	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
15	nsv469702	chr22:23743640-23890756	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv482382	chr22:23743640-23890756	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv933040	chr22:23747565-23922420	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	nsv933753	chr22:23747905-23933431	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	nsv834154	chr22:23748703-23902492	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv1062411	chr22:23750101-24264796	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
21	nsv588604	chr22:23813258-23891107	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv914586	chr22:23838940-23912723	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv914587	chr22:23841356-23925335	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv471186	chr22:23843675-23922983	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
25	nsv914588	chr22:23849044-23921427	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
26	esv3494920	chr22:23852476-23878332	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	esv3494921	chr22:23852476-23878332	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
28	nsv914589	chr22:23874416-23952627	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23868800-23882000	Enhancers	Fetal Thymus	thymus
2	chr22:23871200-23878200	Enhancers	Fetal Lung	lung
3	chr22:23871200-23878400	Enhancers	Ovary	ovary
4	chr22:23872400-23878400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:23873400-23881800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:23873600-23881400	Enhancers	Fetal Intestine Small	intestine
7	chr22:23873800-23882000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:23874000-23878200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr22:23874000-23880800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:23874200-23878600	Enhancers	Dnd41	blood
11	chr22:23874600-23880800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr22:23874600-23881000	Enhancers	Fetal Intestine Large	intestine
13	chr22:23874600-23881400	Weak transcription	Fetal Brain Male	brain
14	chr22:23874600-23881800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr22:23874800-23877200	Enhancers	Fetal Muscle Trunk	muscle
16	chr22:23874800-23877400	Enhancers	Fetal Stomach	stomach
17	chr22:23874800-23878200	Enhancers	Spleen	Spleen
18	chr22:23875000-23877400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr22:23875000-23878200	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr22:23875200-23878000	Enhancers	Colonic Mucosa	Colon
21	chr22:23875200-23882000	Enhancers	Fetal Kidney	kidney
22	chr22:23875600-23877600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr22:23875600-23878200	Enhancers	Lung	lung
24	chr22:23875600-23878800	Enhancers	Stomach Mucosa	stomach
25	chr22:23875600-23881800	Enhancers	Placenta	Placenta
26	chr22:23875800-23880600	Enhancers	HepG2	liver
27	chr22:23876000-23877000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
28	chr22:23876000-23877800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr22:23876000-23881600	Enhancers	K562	blood
30	chr22:23876200-23877400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:23876200-23877400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr22:23876200-23877400	Weak transcription	Thymus	Thymus
33	chr22:23876200-23877400	Weak transcription	A549	lung
34	chr22:23876200-23877600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr22:23876200-23877800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr22:23876200-23878000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr22:23876200-23878000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr22:23876200-23878200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr22:23876200-23878400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr22:23876200-23878600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr22:23876200-23880200	Weak transcription	Right Atrium	heart
42	chr22:23876200-23880600	Weak transcription	HUVEC	blood vessel
43	chr22:23876200-23881600	Weak transcription	Right Ventricle	heart
44	chr22:23876400-23877600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr22:23876400-23877600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr22:23876400-23878000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:23876400-23878200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr22:23876400-23879600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr22:23876400-23880000	Weak transcription	Fetal Heart	heart
50	chr22:23876600-23877000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell

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