Variant report

Variant	rs402548
Chromosome Location	chr22:22006008-22006009
allele	G/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	POLR2A	chr22:22005534-22006816	HUVEC	blood vessel:	n/a	n/a
2	NFIC	chr22:22005950-22006455	GM12878	blood:	n/a	n/a
3	POLR2A	chr22:22005849-22006789	ECC-1	luminal epithelium:	n/a	n/a
4	CEBPB	chr22:22005967-22006561	H1-hESC	embryonic stem cell:	n/a	chr22:22006353-22006364
5	CEBPD	chr22:22004950-22007391	K562	blood:	n/a	chr22:22006352-22006363
6	HEY1	chr22:22005956-22006624	HepG2	liver:	n/a	chr22:22006403-22006418
7	POLR2A	chr22:22005137-22007763	K562	blood:	n/a	n/a
8	NFYB	chr22:22005667-22007024	K562	blood:	n/a	chr22:22006414-22006429 chr22:22006416-22006426 chr22:22006326-22006341 chr22:22006414-22006429 chr22:22006329-22006343 chr22:22006329-22006344 chr22:22006329-22006344 chr22:22006414-22006428
9	NR2F2	chr22:22004454-22008653	K562	blood:	n/a	n/a
10	KAP1	chr22:22005299-22006394	K562	blood:	n/a	chr22:22005344-22005352
11	POLR2A	chr22:22005269-22006718	GM15510	blood:	n/a	n/a
12	SMARCB1	chr22:22005221-22007330	K562	blood:	n/a	n/a
13	POLR2A	chr22:22005443-22006747	GM18505	blood:	n/a	n/a
14	MAX	chr22:22005616-22006852	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr22:22005262-22006690	HepG2	liver:	n/a	n/a
16	TAF1	chr22:22005971-22006267	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr22:22004761-22007521	K562	blood:	n/a	n/a
18	TBL1XR1	chr22:22005309-22006815	K562	blood:	n/a	n/a
19	POLR2A	chr22:22005562-22006742	GM18526	blood:	n/a	n/a
20	POLR2A	chr22:22005949-22006308	HepG2	liver:	n/a	n/a
21	SIN3AK20	chr22:22005845-22006770	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr22:22005398-22006715	Raji	blood:	n/a	n/a
23	RCOR1	chr22:22005216-22007325	K562	blood:	n/a	n/a
24	SIN3A	chr22:22005437-22007822	H1-hESC	embryonic stem cell:	n/a	chr22:22005713-22005721 chr22:22006403-22006416 chr22:22007120-22007134
25	ARID3A	chr22:22005402-22006640	K562	blood:	n/a	n/a
26	NR2F2	chr22:22004662-22008799	K562	blood:	n/a	n/a
27	POLR2A	chr22:22005471-22006736	MCF-7	breast:	n/a	n/a
28	CBX3	chr22:22004518-22007512	K562	blood:	n/a	n/a
29	PML	chr22:22005016-22007901	K562	blood:	n/a	chr22:22005344-22005352
30	POLR2A	chr22:22005111-22006874	GM18951	blood:	n/a	n/a
31	TEAD4	chr22:22005869-22006221	H1-hESC	embryonic stem cell:	n/a	n/a
32	RFX5	chr22:22005565-22006126	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAFK	chr22:22005297-22006796	K562	blood:	n/a	n/a
34	THAP1	chr22:22005064-22008219	K562	blood:	n/a	n/a
35	MYC	chr22:22005329-22007270	K562	blood:	n/a	n/a
36	PML	chr22:22005884-22006852	GM12878	blood:	n/a	n/a
37	NFYA	chr22:22005588-22007011	K562	blood:	n/a	chr22:22006414-22006429 chr22:22006416-22006426 chr22:22006414-22006429 chr22:22006329-22006343 chr22:22006329-22006344 chr22:22006329-22006344 chr22:22006373-22006391 chr22:22006414-22006428
38	TAF1	chr22:22005876-22006714	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr22:22005158-22006864	K562	blood:	n/a	n/a
40	POLR2A	chr22:22005556-22006808	SK-N-MC	brain:	n/a	n/a
41	E2F6	chr22:22005246-22007387	K562	blood:	n/a	chr22:22007224-22007236 chr22:22006159-22006169 chr22:22006322-22006332 chr22:22006323-22006333
42	ETS1	chr22:22005139-22008071	K562	blood:	n/a	chr22:22005850-22005857 chr22:22005848-22005857 chr22:22007415-22007428
43	POLR2A	chr22:22005111-22007673	PFSK-1	brain:	n/a	n/a
44	POU2F2	chr22:22005796-22006699	GM12878	blood:	n/a	chr22:22006434-22006446 chr22:22006494-22006506
45	CHD2	chr22:22005701-22006672	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr22:22005248-22007272	K562	blood:	n/a	n/a
47	POLR2A	chr22:22005305-22006733	GM19099	blood:	n/a	n/a
48	POLR2A	chr22:22005716-22006150	PANC-1	pancreas:	n/a	n/a
49	CEBPD	chr22:22005970-22006235	HepG2	liver:	n/a	n/a
50	MAZ	chr22:22005688-22006984	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:21982497..21985083-chr22:22004368..22006741,4	MCF-7	breast:
2	chr22:22005965..22007764-chr22:22291588..22295229,3	K562	blood:
3	chr22:22005749..22007465-chr22:22293364..22295229,2	K562	blood:
4	chr22:21995435..21996753-chr22:22005158..22006527,7	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	chr22:22005826..22007484-chr22:22335133..22337197,2	K562	blood:
10	chr22:21997414..21999019-chr22:22004006..22006421,2	MCF-7	breast:
11	chr22:22003932..22007330-chr22:22018565..22021264,4	MCF-7	breast:
12	chr22:22004165..22007450-chr22:22088545..22091929,3	K562	blood:

Variant related genes	Relation type
PPIL2	TF binding region
MIR130B	TF binding region
MIR301B	TF binding region
ENSG00000161179	Chromatin interaction
ENSG00000100038	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000169359	Chromatin interaction
ENSG00000185686	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1210390	0.95[ASN][1000 genomes]
rs1210407	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1210408	0.81[ASN][1000 genomes]
rs1210412	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35445502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs366026	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs368351	0.97[ASN][1000 genomes]
rs372108	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs372150	0.99[ASN][1000 genomes]
rs374659	0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs379591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs381713	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs384262	0.81[ASN][1000 genomes]
rs384422	0.92[ASN][1000 genomes]
rs388113	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs390720	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs391324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs394073	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs395006	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs403865	0.83[ASN][1000 genomes]
rs409796	0.96[ASN][1000 genomes]
rs412596	0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs416661	0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs425046	0.81[JPT][hapmap];0.85[AMR][1000 genomes]
rs428595	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs429623	0.95[ASN][1000 genomes]
rs433704	0.81[ASN][1000 genomes]
rs436570	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs443845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs447001	0.80[ASN][1000 genomes]
rs451422	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs452649	0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs5754787	0.87[AMR][1000 genomes]
rs710169	1.00[AMR][1000 genomes]
rs710170	1.00[AMR][1000 genomes]
rs710173	0.87[AMR][1000 genomes]
rs861815	1.00[AMR][1000 genomes]
rs861819	1.00[AMR][1000 genomes]
rs861822	1.00[AMR][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22004800-22006200	Flanking Active TSS	Dnd41	blood
2	chr22:22005000-22006200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:22005000-22006200	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr22:22005200-22006200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr22:22005200-22006200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr22:22005200-22006200	Flanking Active TSS	HUVEC	blood vessel
7	chr22:22005200-22006400	Flanking Active TSS	Fetal Brain Female	brain
8	chr22:22005200-22006400	Enhancers	Spleen	Spleen
9	chr22:22005200-22007400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr22:22005200-22007600	Flanking Active TSS	Fetal Muscle Trunk	muscle
11	chr22:22005400-22006200	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr22:22005400-22006200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:22005400-22006200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr22:22005400-22006200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr22:22005400-22006200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr22:22005400-22006200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr22:22005400-22006200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr22:22005400-22006200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr22:22005400-22006200	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr22:22005400-22006200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr22:22005400-22006200	Flanking Active TSS	Fetal Stomach	stomach
22	chr22:22005400-22006200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr22:22005400-22006200	Flanking Active TSS	NHEK	skin
24	chr22:22005400-22006200	Flanking Active TSS	Osteobl	bone
25	chr22:22005400-22006400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr22:22005400-22006600	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr22:22005400-22006800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr22:22005400-22006800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr22:22005400-22007000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr22:22005400-22007000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr22:22005400-22007000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr22:22005400-22007200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr22:22005400-22007400	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr22:22005400-22007400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr22:22005400-22007600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:22005400-22007600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr22:22005400-22007800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr22:22005600-22006200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr22:22005600-22006200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr22:22005600-22006200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr22:22005600-22006200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr22:22005600-22006200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr22:22005600-22006200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr22:22005600-22006200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr22:22005600-22006200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr22:22005600-22006200	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr22:22005600-22006200	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr22:22005600-22006200	Flanking Active TSS	Colonic Mucosa	Colon
49	chr22:22005600-22006200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr22:22005600-22006200	Flanking Active TSS	Esophagus	oesophagus

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