Variant report

Variant	rs372150
Chromosome Location	chr22:22007370-22007371
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	CTCF	chr22:22007220-22007370	AG04449	skin:	n/a	n/a
2	RAD21	chr22:22006913-22007392	K562	blood:	n/a	chr22:22007257-22007267
3	CEBPD	chr22:22004950-22007391	K562	blood:	n/a	chr22:22006352-22006363
4	POLR2A	chr22:22005137-22007763	K562	blood:	n/a	n/a
5	NR2F2	chr22:22004454-22008653	K562	blood:	n/a	n/a
6	POLR2A	chr22:22004761-22007521	K562	blood:	n/a	n/a
7	SIN3A	chr22:22005437-22007822	H1-hESC	embryonic stem cell:	n/a	chr22:22005713-22005721 chr22:22006403-22006416 chr22:22007120-22007134
8	NR2F2	chr22:22004662-22008799	K562	blood:	n/a	n/a
9	CBX3	chr22:22004518-22007512	K562	blood:	n/a	n/a
10	PML	chr22:22005016-22007901	K562	blood:	n/a	chr22:22005344-22005352
11	CHD2	chr22:22007089-22007747	H1-hESC	embryonic stem cell:	n/a	chr22:22007421-22007431
12	THAP1	chr22:22005064-22008219	K562	blood:	n/a	n/a
13	CTCF	chr22:22007114-22007407	K562	blood:	n/a	n/a
14	POLR2A	chr22:22007017-22007517	GM12878	blood:	n/a	n/a
15	E2F6	chr22:22005246-22007387	K562	blood:	n/a	chr22:22007224-22007236 chr22:22006159-22006169 chr22:22006322-22006332 chr22:22006323-22006333
16	ETS1	chr22:22005139-22008071	K562	blood:	n/a	chr22:22005850-22005857 chr22:22005848-22005857 chr22:22007415-22007428
17	POLR2A	chr22:22005111-22007673	PFSK-1	brain:	n/a	n/a
18	MAX	chr22:22004994-22007381	K562	blood:	n/a	n/a
19	ZBTB7A	chr22:22005788-22007536	ECC-1	luminal epithelium:	n/a	chr22:22006861-22006868 chr22:22007009-22007018 chr22:22006710-22006718 chr22:22006449-22006457
20	PML	chr22:22004873-22008608	K562	blood:	n/a	chr22:22008587-22008595 chr22:22005344-22005352
21	POLR2A	chr22:22004717-22007380	K562	blood:	n/a	n/a
22	HEY1	chr22:22004958-22008800	K562	blood:	n/a	chr22:22007524-22007539 chr22:22006403-22006418
23	HEY1	chr22:22005026-22007900	K562	blood:	n/a	chr22:22007524-22007539 chr22:22006403-22006418
24	STAT5A	chr22:22004380-22007523	K562	blood:	n/a	chr22:22007102-22007110 chr22:22007195-22007207 chr22:22007164-22007176 chr22:22006679-22006691 chr22:22007417-22007429 chr22:22007424-22007436 chr22:22005717-22005729
25	SP2	chr22:22007348-22008640	K562	blood:	n/a	n/a
26	UBTF	chr22:22005254-22007389	K562	blood:	n/a	n/a
27	TEAD4	chr22:22007253-22007793	H1-hESC	embryonic stem cell:	n/a	n/a
28	ELF1	chr22:22005653-22007395	K562	blood:	n/a	n/a
29	MXI1	chr22:22005182-22007512	SK-N-SH	brain:	n/a	chr22:22007446-22007461
30	JUN	chr22:22004275-22009366	K562	blood:	n/a	chr22:22006333-22006342 chr22:22006418-22006427 chr22:22006621-22006629
31	TEAD4	chr22:22007283-22007804	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr22:22002106-22008893	K562	blood:	n/a	n/a
33	MAZ	chr22:22005208-22007411	K562	blood:	n/a	n/a
34	POLR2A	chr22:22007201-22007452	H1-hESC	embryonic stem cell:	n/a	n/a
35	ZBTB7A	chr22:22005719-22007769	ECC-1	luminal epithelium:	n/a	chr22:22006861-22006868 chr22:22007009-22007018 chr22:22006710-22006718 chr22:22006449-22006457
36	SP1	chr22:22007146-22007763	H1-hESC	embryonic stem cell:	n/a	chr22:22007524-22007533 chr22:22007419-22007431 chr22:22007421-22007430 chr22:22007199-22007209 chr22:22007420-22007434 chr22:22007524-22007534 chr22:22007523-22007535 chr22:22007199-22007209 chr22:22007524-22007533 chr22:22007525-22007534 chr22:22007419-22007430 chr22:22007523-22007535
37	HDAC2	chr22:22005068-22007786	K562	blood:	n/a	n/a
38	CTCF	chr22:22006338-22007455	K562	blood:	n/a	chr22:22006854-22006867
39	POLR2A	chr22:22005110-22007763	K562	blood:	n/a	n/a
40	ZBTB7A	chr22:22004921-22007705	K562	blood:	n/a	chr22:22006861-22006868 chr22:22005219-22005228 chr22:22007009-22007018 chr22:22006710-22006718 chr22:22006449-22006457
41	E2F6	chr22:22005621-22007400	K562	blood:	n/a	chr22:22007224-22007236 chr22:22006159-22006169 chr22:22006322-22006332 chr22:22006323-22006333
42	ELF1	chr22:22005082-22008696	K562	blood:	n/a	chr22:22007524-22007536
43	POLR2A	chr22:22005078-22007533	K562	blood:	n/a	n/a
44	SIN3AK20	chr22:22004998-22007414	K562	blood:	n/a	n/a
45	CTCF	chr22:22007240-22007390	GM12866	blood:	n/a	n/a
46	TRIM28	chr22:22004470-22007494	K562	blood:	n/a	chr22:22005344-22005352
47	CEBPB	chr22:22004973-22007434	K562	blood:	n/a	chr22:22005299-22005311 chr22:22006353-22006364
48	TBP	chr22:22007206-22007709	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr22:22005473-22007873	H1-hESC	embryonic stem cell:	n/a	n/a
50	YY1	chr22:22005222-22007549	K562	blood:	n/a	chr22:22007419-22007430 chr22:22006685-22006694

No.	Distal block	Cell Line	Cell type
1	chr22:22005965..22007764-chr22:22291588..22295229,3	K562	blood:
2	chr22:22006832..22007456-chr22:22292539..22293060,2	K562	blood:
3	chr22:21355601..21357315-chr22:22006287..22008814,2	K562	blood:
4	chr22:22005749..22007465-chr22:22293364..22295229,2	K562	blood:
5	chr22:22005850..22008007-chr3:155571064..155572872,2	K562	blood:
6	chr22:21982265..21985710-chr22:22005242..22008783,5	MCF-7	breast:
7	chr22:22004774..22007479-chr22:22898413..22901210,2	K562	blood:
8	chr22:22004774..22008117-chr22:22898413..22901210,3	K562	blood:
9	chr22:21211756..21214604-chr22:22007278..22009466,2	K562	blood:
10	chr22:22005826..22007484-chr22:22335133..22337197,2	K562	blood:
11	chr22:22004165..22007450-chr22:22088545..22091929,3	K562	blood:
12	chr22:21920727..21924429-chr22:22006455..22008474,3	MCF-7	breast:
13	chr22:22006264..22009261-chr22:22291037..22293088,2	K562	blood:

Variant related genes	Relation type
MIR130B	TF binding region
ENSG00000100038	Chromatin interaction
ENSG00000185686	Chromatin interaction
ENSG00000184436	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000185651	Chromatin interaction
ENSG00000169359	Chromatin interaction
ENSG00000241973	Chromatin interaction
ENSG00000099940	Chromatin interaction
ENSG00000230513	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000100034	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1210390	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1210407	0.93[ASN][1000 genomes]
rs1210412	0.83[ASN][1000 genomes]
rs35445502	0.96[ASN][1000 genomes]
rs366026	0.85[ASN][1000 genomes]
rs368351	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs372108	0.85[ASN][1000 genomes]
rs374659	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379591	0.97[ASN][1000 genomes]
rs384422	0.91[ASN][1000 genomes]
rs388113	0.88[ASN][1000 genomes]
rs390720	0.93[ASN][1000 genomes]
rs391324	0.96[ASN][1000 genomes]
rs394073	0.96[ASN][1000 genomes]
rs395006	0.99[ASN][1000 genomes]
rs402225	0.87[ASN][1000 genomes]
rs402548	0.99[ASN][1000 genomes]
rs403865	0.82[ASN][1000 genomes]
rs409796	0.95[ASN][1000 genomes]
rs412596	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs416661	0.87[ASN][1000 genomes]
rs428595	0.96[ASN][1000 genomes]
rs429623	0.93[ASN][1000 genomes]
rs436570	0.85[ASN][1000 genomes]
rs443845	0.95[ASN][1000 genomes]
rs447001	0.81[ASN][1000 genomes]
rs451422	0.85[ASN][1000 genomes]
rs452649	0.85[ASN][1000 genomes]
rs710176	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs861840	0.89[EUR][1000 genomes]
rs861841	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs861844	0.90[EUR][1000 genomes]
rs861845	0.89[EUR][1000 genomes]
rs861846	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
4	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
5	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
6	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
8	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
9	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
10	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
12	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
13	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
14	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
15	nsv914469	chr22:21985094-22010918	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
16	esv3456722	chr22:21993383-22019246	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
17	esv3456723	chr22:21993399-22019258	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22005200-22007400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr22:22005200-22007600	Flanking Active TSS	Fetal Muscle Trunk	muscle
3	chr22:22005400-22007400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr22:22005400-22007400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr22:22005400-22007600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:22005400-22007600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:22005400-22007800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr22:22005600-22007400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr22:22005600-22007400	Active TSS	A549	lung
10	chr22:22005600-22007600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr22:22005600-22007600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr22:22005600-22007600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:22005600-22007600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr22:22005600-22007800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:22005600-22007800	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr22:22005800-22007400	Active TSS	Fetal Kidney	kidney
17	chr22:22005800-22007600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr22:22005800-22007600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr22:22005800-22007600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:22005800-22007600	Active TSS	NHDF-Ad	bronchial
21	chr22:22005800-22007800	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr22:22006000-22007400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:22006200-22007400	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr22:22006200-22007400	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr22:22006200-22007400	Active TSS	NHEK	skin
26	chr22:22006200-22007600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:22006600-22007400	Flanking Active TSS	Fetal Thymus	thymus
28	chr22:22006600-22007600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr22:22006600-22007600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr22:22006600-22007600	Flanking Active TSS	Fetal Intestine Small	intestine
31	chr22:22006600-22007800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr22:22006800-22007400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr22:22006800-22007400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr22:22006800-22007400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr22:22006800-22007400	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr22:22006800-22007400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
37	chr22:22006800-22007400	Enhancers	Spleen	Spleen
38	chr22:22006800-22007400	Flanking Active TSS	HMEC	breast
39	chr22:22006800-22007600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr22:22006800-22007600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr22:22006800-22007600	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr22:22006800-22007600	Flanking Active TSS	Fetal Stomach	stomach
43	chr22:22006800-22007600	Enhancers	Lung	lung
44	chr22:22006800-22007800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr22:22006800-22010800	Weak transcription	Primary T cells from cord blood	blood
46	chr22:22006800-22011600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr22:22006800-22012000	Weak transcription	Liver	Liver
48	chr22:22007000-22007400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr22:22007000-22007400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr22:22007000-22007400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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