Variant report

Variant	rs2070441
Chromosome Location	chr22:23744477-23744478
allele	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	HA-E2F1	chr22:23744402-23745287	MCF-7	breast:	n/a	chr22:23745240-23745249
2	ZNF263	chr22:23744257-23745316	HEK293-T-REx	kidney:	n/a	n/a
3	NFIC	chr22:23744468-23745215	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr22:23744460-23744980	ECC-1	luminal epithelium:	n/a	n/a
5	REST	chr22:23744452-23744754	PANC-1	pancreas:	n/a	n/a
6	MAX	chr22:23744422-23744856	A549	lung:	n/a	n/a
7	CTBP2	chr22:23744287-23745184	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr22:23744451-23745214	A549	lung:	n/a	n/a
9	MAX	chr22:23744429-23745219	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr22:23744421-23745490	SK-N-SH	brain:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
11	SMC3	chr22:23743979-23745540	SK-N-SH	brain:	n/a	chr22:23744978-23744992 chr22:23745058-23745068 chr22:23744982-23744992
12	RAD21	chr22:23744257-23745569	SK-N-SH	brain:	n/a	chr22:23745533-23745543 chr22:23745246-23745256 chr22:23745057-23745070 chr22:23744978-23744992
13	TCF12	chr22:23744421-23744872	ECC-1	luminal epithelium:	n/a	n/a
14	SIN3A	chr22:23744225-23745196	H1-hESC	embryonic stem cell:	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: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13054049	0.98[ASN][1000 genomes]
rs2070442	0.97[ASN][1000 genomes]
rs41277535	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58741550	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59539020	0.92[ASN][1000 genomes]
rs61271590	0.98[ASN][1000 genomes]
rs73392657	0.85[ASN][1000 genomes]
rs73392660	0.85[ASN][1000 genomes]
rs743353	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs743354	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs743355	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs743356	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8135792	0.88[AFR][1000 genomes]
rs8140608	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.98[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	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23738800-23746400	Enhancers	Fetal Brain Male	brain
2	chr22:23741600-23745000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr22:23743000-23744600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr22:23743600-23744600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr22:23743600-23744600	Flanking Active TSS	Brain Germinal Matrix	brain
6	chr22:23743600-23744800	Flanking Active TSS	HMEC	breast
7	chr22:23744000-23744600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:23744000-23744600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr22:23744000-23744600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr22:23744000-23744600	Flanking Active TSS	Fetal Intestine Large	intestine
11	chr22:23744000-23744600	Flanking Active TSS	Placenta	Placenta
12	chr22:23744000-23744800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:23744000-23745200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr22:23744000-23745200	Enhancers	Spleen	Spleen
15	chr22:23744000-23745200	Active TSS	A549	lung
16	chr22:23744000-23745400	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr22:23744000-23745400	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr22:23744000-23745400	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr22:23744000-23745600	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr22:23744200-23744600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr22:23744200-23744600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:23744200-23744600	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr22:23744200-23744600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr22:23744200-23744600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
25	chr22:23744200-23744600	Flanking Active TSS	Fetal Brain Female	brain
26	chr22:23744200-23744600	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr22:23744200-23744600	Active TSS	Fetal Kidney	kidney
28	chr22:23744200-23744600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
29	chr22:23744200-23744600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr22:23744200-23744600	Flanking Active TSS	NHEK	skin
31	chr22:23744200-23744800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr22:23744200-23744800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr22:23744200-23744800	Flanking Active TSS	Ovary	ovary
34	chr22:23744200-23744800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
35	chr22:23744200-23744800	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr22:23744200-23745200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr22:23744200-23745200	Active TSS	Brain Angular Gyrus	brain
38	chr22:23744200-23745200	Active TSS	Brain Anterior Caudate	brain
39	chr22:23744200-23745200	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr22:23744200-23745400	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr22:23744200-23745400	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr22:23744200-23745400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr22:23744200-23745400	Enhancers	Primary B cells from peripheral blood	blood
44	chr22:23744200-23745400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr22:23744400-23744600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr22:23744400-23744600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:23744400-23744600	Enhancers	Primary T cells from cord blood	blood
48	chr22:23744400-23744600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
49	chr22:23744400-23744600	Active TSS	Primary hematopoietic stem cells	blood
50	chr22:23744400-23744600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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