Variant report

Variant	rs192039619
Chromosome Location	chr22:23744250-23744251
allele	A/G
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	BHLHE40	chr22:23744217-23744314	K562	blood:	n/a	n/a
2	CCNT2	chr22:23744248-23744361	K562	blood:	n/a	chr22:23744349-23744358
3	YY1	chr22:23744060-23744475	K562	blood:	n/a	chr22:23744349-23744358
4	SMC3	chr22:23743979-23745540	SK-N-SH	brain:	n/a	chr22:23744978-23744992 chr22:23745058-23745068 chr22:23744982-23744992
5	ZBTB7A	chr22:23744091-23744396	K562	blood:	n/a	n/a
6	SIN3A	chr22:23744225-23745196	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr22:23744226-23744361	K562	blood:	n/a	n/a
8	TAL1	chr22:23744222-23744467	K562	blood:	n/a	n/a
9	YY1	chr22:23744190-23744333	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:20255317..20256206-chr22:23744235..23745365,12	HCT-116	colon:
2	chr22:20255195..20256295-chr22:23744242..23744859,6	MCF-7	breast:
3	chr22:20255172..20256299-chr22:23744215..23745345,10	MCF-7	breast:
4	chr22:20255134..20257109-chr22:23743239..23744767,3	MCF-7	breast:
5	chr22:20255606..20257319-chr22:23743223..23746226,3	K562	blood:
6	chr22:20255641..20256294-chr22:23744242..23744784,3	Hela-S3	cervix:
7	chr22:20253259..20257319-chr22:23743216..23746275,4	K562	blood:

Variant related genes	Relation type
ZDHHC8P1	TF binding region
ENSG00000040608	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv1057910	chr22:23704457-23750847	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv914580	chr22:23720420-23757964	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	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
18	nsv914582	chr22:23723721-23750847	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv914583	chr22:23723721-23752398	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv829099	chr22:23726903-23747505	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv914584	chr22:23729698-23774625	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS 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	5 gene(s)	inside rSNPs	diseases
22	esv3438074	chr22:23743477-23746325	Bivalent Enhancer Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	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
24	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

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23738600-23744400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr22:23738800-23744400	Weak transcription	Fetal Thymus	thymus
3	chr22:23738800-23746400	Enhancers	Fetal Brain Male	brain
4	chr22:23741600-23745000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr22:23742400-23744400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr22:23742600-23744400	Weak transcription	Esophagus	oesophagus
7	chr22:23742800-23744400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr22:23742800-23744400	Enhancers	NH-A	brain
9	chr22:23743000-23744600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:23743400-23744400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:23743600-23744600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:23743600-23744600	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr22:23743600-23744800	Flanking Active TSS	HMEC	breast
14	chr22:23744000-23744400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr22:23744000-23744400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr22:23744000-23744600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:23744000-23744600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr22:23744000-23744600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:23744000-23744600	Flanking Active TSS	Fetal Intestine Large	intestine
20	chr22:23744000-23744600	Flanking Active TSS	Placenta	Placenta
21	chr22:23744000-23744800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr22:23744000-23745200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr22:23744000-23745200	Enhancers	Spleen	Spleen
24	chr22:23744000-23745200	Active TSS	A549	lung
25	chr22:23744000-23745400	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr22:23744000-23745400	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr22:23744000-23745400	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr22:23744000-23745600	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr22:23744200-23744400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
30	chr22:23744200-23744400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:23744200-23744400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr22:23744200-23744400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:23744200-23744400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr22:23744200-23744400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr22:23744200-23744400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr22:23744200-23744400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr22:23744200-23744400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr22:23744200-23744400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr22:23744200-23744400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr22:23744200-23744400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr22:23744200-23744400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr22:23744200-23744400	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr22:23744200-23744400	Enhancers	Brain Substantia Nigra	brain
44	chr22:23744200-23744400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
45	chr22:23744200-23744400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr22:23744200-23744400	Enhancers	Pancreas	Pancrea
47	chr22:23744200-23744400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr22:23744200-23744400	Enhancers	K562	blood
49	chr22:23744200-23744600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr22:23744200-23744600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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