Variant report

Variant	rs394073
Chromosome Location	chr22:22012115-22012116
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	CHD2	chr22:22011037-22012814	K562	blood:	n/a	chr22:22011872-22011882
2	POLR2A	chr22:22010757-22013057	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:22010788-22012887	K562	blood:	n/a	n/a
4	TAF1	chr22:22011463-22012300	K562	blood:	n/a	n/a
5	HA-E2F1	chr22:22011522-22012709	MCF-7	breast:	n/a	chr22:22011842-22011851 chr22:22012323-22012335 chr22:22011968-22011977 chr22:22011879-22011888 chr22:22012195-22012209
6	RCOR1	chr22:22010894-22012316	K562	blood:	n/a	n/a
7	ZBTB7A	chr22:22011516-22012416	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr22:22011460-22013054	HepG2	liver:	n/a	n/a
9	ZNF143	chr22:22011433-22012312	GM12878	blood:	n/a	n/a
10	POLR2A	chr22:22011624-22012299	GM12878	blood:	n/a	n/a
11	MAX	chr22:22010915-22012372	K562	blood:	n/a	n/a
12	MXI1	chr22:22011527-22012771	HepG2	liver:	n/a	n/a
13	POLR2A	chr22:22011469-22012287	HepG2	liver:	n/a	n/a
14	POLR2A	chr22:22010937-22013070	ECC-1	luminal epithelium:	n/a	n/a
15	ELF1	chr22:22011663-22012259	GM12878	blood:	n/a	chr22:22011869-22011881 chr22:22011993-22012005
16	POLR2A	chr22:22011379-22012264	HCT-116	colon:	n/a	n/a
17	POLR2A	chr22:22010706-22013104	K562	blood:	n/a	n/a
18	MYC	chr22:22010935-22012324	K562	blood:	n/a	n/a
19	MXI1	chr22:22011310-22012770	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr22:22011646-22012225	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr22:22011094-22012434	U87	brain:	n/a	n/a
22	GABPA	chr22:22010948-22013121	K562	blood:	n/a	chr22:22011787-22011801 chr22:22011842-22011851
23	POLR2A	chr22:22011207-22012742	HepG2	liver:	n/a	n/a
24	MAX	chr22:22011563-22012295	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr22:22011133-22012851	HUVEC	blood vessel:	n/a	n/a
26	ELF1	chr22:22011494-22012866	K562	blood:	n/a	chr22:22011869-22011881 chr22:22011993-22012005
27	MXI1	chr22:22011276-22012259	GM12878	blood:	n/a	n/a
28	POLR2A	chr22:22011345-22012770	HUVEC	blood vessel:	n/a	n/a
29	CTBP2	chr22:22011312-22012688	H1-hESC	embryonic stem cell:	n/a	n/a
30	NR2F2	chr22:22011483-22012273	MCF-7	breast:	n/a	n/a
31	POLR2A	chr22:22011396-22012745	MCF-7	breast:	n/a	n/a
32	TCF7L2	chr22:22011610-22012319	HCT-116	colon:	n/a	n/a
33	RCOR1	chr22:22010900-22012201	K562	blood:	n/a	n/a
34	CEBPB	chr22:22011706-22012776	HepG2	liver:	n/a	n/a
35	TEAD4	chr22:22010067-22013120	K562	blood:	n/a	n/a
36	REST	chr22:22010751-22012375	K562	blood:	n/a	chr22:22012224-22012237 chr22:22011508-22011521 chr22:22012153-22012166
37	PML	chr22:22010613-22012287	K562	blood:	n/a	n/a
38	POLR2A	chr22:22011259-22012988	GM12878	blood:	n/a	n/a
39	SETDB1	chr22:22011298-22012843	K562	blood:	n/a	n/a
40	MAX	chr22:22011618-22012814	SK-N-SH	brain:	n/a	n/a
41	GABPA	chr22:22011769-22012551	MCF-7	breast:	n/a	chr22:22011787-22011801 chr22:22011842-22011851
42	MAX	chr22:22011183-22012299	K562	blood:	n/a	n/a
43	E2F6	chr22:22011463-22013037	H1-hESC	embryonic stem cell:	n/a	chr22:22011842-22011851 chr22:22012323-22012335 chr22:22011968-22011977 chr22:22011879-22011888 chr22:22012195-22012209
44	ZMIZ1	chr22:22010910-22012289	K562	blood:	n/a	n/a
45	POLR2A	chr22:22010868-22012940	K562	blood:	n/a	n/a
46	POLR2A	chr22:22011562-22012147	A549	lung:	n/a	n/a
47	TEAD4	chr22:22010722-22013097	K562	blood:	n/a	n/a
48	TBP	chr22:22012084-22012958	H1-hESC	embryonic stem cell:	n/a	n/a
49	ZNF143	chr22:22010978-22012293	K562	blood:	n/a	n/a
50	POLR2A	chr22:22011158-22012353	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:22011842..22015116-chr22:22321184..22324268,3	K562	blood:
2	chr22:21983192..21984464-chr22:22011235..22012398,3	K562	blood:
3	chr22:22011227..22012370-chr22:22292220..22293363,4	K562	blood:
4	chr22:22011088..22014764-chr22:22088779..22092551,4	K562	blood:
5	chr22:21992086..21994401-chr22:22010428..22012823,2	MCF-7	breast:
6	chr22:22011595..22013353-chr22:22082814..22084331,2	K562	blood:
7	chr22:21982609..21984758-chr22:22010076..22013251,4	MCF-7	breast:
8	chr22:22011367..22012289-chr22:22039368..22040162,2	K562	blood:
9	chr22:22011781..22012348-chr9:4679303..4679947,2	NB4	blood:
10	chr22:22011149..22013585-chr22:22335702..22337428,2	K562	blood:
11	chr22:21982705..21984645-chr22:22010803..22012365,2	MCF-7	breast:
12	chr22:22000176..22001700-chr22:22010564..22012742,9	K562	blood:
13	chr22:22009565..22013226-chr22:22291661..22294169,4	K562	blood:
14	chr15:97307468..97308447-chr22:22012009..22012765,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272954	TF binding region
ENSG00000100034	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000273061	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000106993	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000100038	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11704601	1.00[AFR][1000 genomes]
rs11705259	1.00[AFR][1000 genomes]
rs1210390	0.92[ASN][1000 genomes]
rs1210407	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1210408	0.83[ASN][1000 genomes]
rs1210412	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs131666	1.00[AFR][1000 genomes]
rs34592211	1.00[AFR][1000 genomes]
rs35113423	1.00[AFR][1000 genomes]
rs35445502	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35844718	1.00[AFR][1000 genomes]
rs366026	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs368351	0.95[ASN][1000 genomes]
rs372108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs372150	0.96[ASN][1000 genomes]
rs374659	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3747091	1.00[AFR][1000 genomes]
rs379591	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs381713	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs384262	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs384422	0.90[ASN][1000 genomes]
rs388113	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs390720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs391324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs395006	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs402225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs402548	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs403865	0.85[ASN][1000 genomes]
rs409153	0.81[ASN][1000 genomes]
rs409796	0.99[ASN][1000 genomes]
rs412596	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs416661	0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs425046	0.85[AMR][1000 genomes]
rs428595	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429623	0.97[ASN][1000 genomes]
rs433704	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs436570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs443845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs447001	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs451422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs452649	0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs459265	1.00[AFR][1000 genomes]
rs5754787	0.87[AMR][1000 genomes]
rs57965798	1.00[AFR][1000 genomes]
rs710169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs710170	1.00[AMR][1000 genomes]
rs710173	0.87[AMR][1000 genomes]
rs71314788	1.00[AFR][1000 genomes]
rs861815	1.00[AMR][1000 genomes]
rs861817	0.87[JPT][hapmap]
rs861819	0.88[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs861822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9609947	1.00[AFR][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	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
16	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
17	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22007600-22019800	Weak transcription	Fetal Heart	heart
2	chr22:22011000-22012800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:22011000-22012800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr22:22011000-22012800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr22:22011200-22012400	Active TSS	HSMMtube	muscle
6	chr22:22011200-22012800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr22:22011200-22013000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr22:22011200-22013000	Enhancers	Fetal Brain Male	brain
9	chr22:22011400-22012200	Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr22:22011400-22012200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
11	chr22:22011400-22012400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:22011400-22012400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr22:22011400-22012400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:22011400-22012400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
15	chr22:22011400-22012400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:22011400-22012400	Active TSS	Fetal Kidney	kidney
17	chr22:22011400-22012600	Active TSS	H1 Cell Line	embryonic stem cell
18	chr22:22011400-22012600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:22011400-22012600	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr22:22011400-22012600	Active TSS	Brain Germinal Matrix	brain
21	chr22:22011400-22012600	Active TSS	Colonic Mucosa	Colon
22	chr22:22011400-22012600	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr22:22011400-22012600	Enhancers	Stomach Mucosa	stomach
24	chr22:22011400-22012600	Flanking Active TSS	NH-A	brain
25	chr22:22011400-22012800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr22:22011400-22012800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr22:22011400-22012800	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr22:22011400-22012800	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr22:22011400-22012800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr22:22011400-22012800	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr22:22011400-22012800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr22:22011400-22012800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
33	chr22:22011400-22012800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr22:22011400-22012800	Active TSS	Osteobl	bone
35	chr22:22011400-22013000	Active TSS	H9 Cell Line	embryonic stem cell
36	chr22:22011600-22012200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr22:22011600-22012200	Bivalent/Poised TSS	Fetal Stomach	stomach
38	chr22:22011600-22012200	Flanking Active TSS	Thymus	Thymus
39	chr22:22011600-22012400	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr22:22011600-22012400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr22:22011600-22012400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
42	chr22:22011600-22012400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr22:22011600-22012400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr22:22011600-22012400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr22:22011600-22012400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr22:22011600-22012400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
47	chr22:22011600-22012400	Active TSS	Brain Cingulate Gyrus	brain
48	chr22:22011600-22012400	Active TSS	Brain Hippocampus Middle	brain
49	chr22:22011600-22012400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
50	chr22:22011600-22012400	Active TSS	Lung	lung

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