Variant report

Variant	rs11722522
Chromosome Location	chr4:10463111-10463112
allele	A/C
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	UBTF	chr4:10462656-10463219	K562	blood:	n/a	n/a
2	CTCF	chr4:10463000-10463150	HepG2	liver:	n/a	n/a
3	CTCF	chr4:10462883-10463262	GM19240	blood:	n/a	n/a
4	CTCF	chr4:10462936-10463222	ProgFib	skin:	n/a	n/a
5	CTCF	chr4:10462952-10463188	A549	lung:	n/a	n/a
6	ZNF384	chr4:10462908-10463125	K562	blood:	n/a	n/a
7	MYC	chr4:10462898-10463170	K562	blood:	n/a	n/a
8	CTCF	chr4:10462980-10463130	HBMEC	blood vessel:	n/a	n/a
9	TEAD4	chr4:10462894-10463366	H1-hESC	embryonic stem cell:	n/a	n/a
10	HCFC1	chr4:10462771-10463303	K562	blood:	n/a	n/a
11	CTCF	chr4:10463000-10463150	GM12874	blood:	n/a	n/a
12	RAD21	chr4:10462882-10463400	H1-hESC	embryonic stem cell:	n/a	chr4:10463067-10463080
13	CTCF	chr4:10462998-10463148	LNCaP	prostate:	n/a	n/a
14	ELF1	chr4:10462764-10463189	GM12878	blood:	n/a	chr4:10462965-10462974
15	POLR2A	chr4:10463057-10463196	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr4:10463000-10463150	GM12870	blood:	n/a	n/a
17	GTF2F1	chr4:10462922-10463353	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr4:10463000-10463150	AG10803	skin:	n/a	n/a
19	CTCF	chr4:10463000-10463150	AG04449	skin:	n/a	n/a
20	ZNF143	chr4:10462596-10463280	GM12878	blood:	n/a	chr4:10463137-10463147 chr4:10463132-10463150 chr4:10462875-10462894
21	CTCF	chr4:10462980-10463130	NHEK	skin:	n/a	n/a
22	SP4	chr4:10462897-10463139	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr4:10462932-10463186	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr4:10463038-10463113	Gliobla	brain:	n/a	n/a
25	RAD21	chr4:10462764-10463271	IMR90	lung:	n/a	chr4:10463067-10463080 chr4:10462843-10462857
26	ATF3	chr4:10462880-10463147	K562	blood:	n/a	n/a
27	E2F6	chr4:10462628-10463602	K562	blood:	n/a	chr4:10462891-10462898 chr4:10462891-10462898 chr4:10462891-10462898 chr4:10462954-10462964 chr4:10463306-10463318 chr4:10462890-10462902
28	JUND	chr4:10462961-10463372	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAZ	chr4:10462728-10463354	K562	blood:	n/a	chr4:10463310-10463320
30	GTF2F1	chr4:10462980-10463185	K562	blood:	n/a	n/a
31	CTCF	chr4:10463020-10463170	HVMF	connective:	n/a	n/a
32	ZBTB7A	chr4:10462922-10463217	K562	blood:	n/a	n/a
33	CTCF	chr4:10462865-10463303	GM12878	blood:	n/a	n/a
34	KAP1	chr4:10462588-10463521	K562	blood:	n/a	n/a
35	CTCF	chr4:10463000-10463150	GM12869	blood:	n/a	n/a
36	NRF1	chr4:10462852-10463187	K562	blood:	n/a	chr4:10463006-10463020 chr4:10462904-10462918 chr4:10463009-10463020 chr4:10463009-10463020 chr4:10463009-10463023
37	RAD21	chr4:10462923-10463263	GM12878	blood:	n/a	chr4:10463067-10463080
38	RCOR1	chr4:10462911-10463149	HepG2	liver:	n/a	n/a
39	CTCF	chr4:10462930-10463198	Pancreas_OC	pancreas:	n/a	n/a
40	CTCF	chr4:10462980-10463130	HAc	cerebellar:	n/a	n/a
41	POLR2A	chr4:10462599-10463207	K562	blood:	n/a	n/a
42	PAX5	chr4:10462944-10463230	GM12878	blood:	n/a	n/a
43	NRF1	chr4:10462823-10463204	H1-hESC	embryonic stem cell:	n/a	chr4:10463006-10463020 chr4:10462904-10462918 chr4:10463009-10463020 chr4:10463009-10463020 chr4:10463009-10463023
44	CTCF	chr4:10462980-10463130	BJ	skin:	n/a	n/a
45	CTCF	chr4:10462980-10463130	GM12865	blood:	n/a	n/a
46	MAX	chr4:10462718-10463277	A549	lung:	n/a	n/a
47	CTCF	chr4:10463020-10463170	RPTEC	kidney:	n/a	n/a
48	CTCF	chr4:10463000-10463150	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr4:10462891-10463432	GM19238	blood:	n/a	n/a
50	TBL1XR1	chr4:10462924-10463238	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:10285232..10288182-chr4:10462590..10465325,2	K562	blood:
2	chr4:10462498..10464981-chr4:10471870..10474447,2	K562	blood:
3	chr4:10177971..10181867-chr4:10459708..10464611,4	K562	blood:
4	chr4:10117460..10124392-chr4:10456675..10465032,17	K562	blood:

Variant related genes	Relation type
ZNF518B	TF binding region
ENSG00000071127	Chromatin interaction
ENSG00000223086	Chromatin interaction
ENSG00000250505	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10016022	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10938799	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11734599	0.82[EUR][1000 genomes]
rs13109939	0.82[EUR][1000 genomes]
rs13112980	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13130674	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13142047	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13142053	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3749558	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4128494	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60262831	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66538112	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6828247	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73224489	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73226419	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7667644	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7685949	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7691990	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9790491	0.82[AMR][1000 genomes];0.83[EUR][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	nsv997941	chr4:9805223-10493388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1008649	chr4:9805223-10589802	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	nsv1000587	chr4:9805223-10610752	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
4	nsv537022	chr4:9805223-10610752	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
5	nsv1003454	chr4:9805223-10710990	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
6	nsv537023	chr4:9805223-10710990	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
7	nsv1004801	chr4:9814720-10674528	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
8	nsv537024	chr4:9814720-10674528	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
9	nsv931483	chr4:9814721-10716463	Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
10	nsv1009972	chr4:9903566-10710990	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
11	nsv537027	chr4:9903566-10710990	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
12	nsv1010620	chr4:9937123-10686682	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
13	nsv530280	chr4:9947818-10940041	Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
14	nsv869057	chr4:10013411-10875454	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
15	nsv997936	chr4:10040713-11009045	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
16	nsv1000177	chr4:10212245-10557776	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv537037	chr4:10212245-10557776	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv829858	chr4:10300236-10492716	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	esv2757921	chr4:10343699-10545800	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	esv2759223	chr4:10343699-10545800	Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv593727	chr4:10397327-10694991	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	nsv517971	chr4:10399068-10893253	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	nsv878694	chr4:10407572-10783606	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
24	esv1811736	chr4:10454409-10467939	Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10462600-10463200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:10462600-10463200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:10462600-10463200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
4	chr4:10462600-10463200	Enhancers	Primary hematopoietic stem cells	blood
5	chr4:10462600-10463200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:10462600-10463200	Bivalent Enhancer	Fetal Intestine Large	intestine
7	chr4:10462600-10463200	Bivalent Enhancer	Placenta	Placenta
8	chr4:10462600-10463400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
9	chr4:10462600-10463600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:10462600-10463600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr4:10462600-10463600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:10462600-10463600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:10462600-10463600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:10462600-10463600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
15	chr4:10462600-10463600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
16	chr4:10462600-10463600	Bivalent/Poised TSS	Colonic Mucosa	Colon
17	chr4:10462600-10463600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
18	chr4:10462600-10463600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
19	chr4:10462600-10463600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
20	chr4:10462600-10463600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
21	chr4:10462600-10463800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr4:10462600-10463800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr4:10462600-10463800	Bivalent/Poised TSS	Fetal Brain Female	brain
24	chr4:10462600-10464000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr4:10462600-10465000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr4:10462800-10463200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:10462800-10463200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:10462800-10463200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:10462800-10463200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
30	chr4:10462800-10463200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr4:10462800-10463200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr4:10462800-10463200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
33	chr4:10462800-10463200	Active TSS	Fetal Kidney	kidney
34	chr4:10462800-10463200	Bivalent Enhancer	Left Ventricle	heart
35	chr4:10462800-10463200	Enhancers	Lung	lung
36	chr4:10462800-10463200	Active TSS	HSMM	muscle
37	chr4:10462800-10463200	Active TSS	NH-A	brain
38	chr4:10462800-10463200	Active TSS	NHLF	lung
39	chr4:10462800-10463200	Bivalent/Poised TSS	Osteobl	bone
40	chr4:10462800-10463400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:10462800-10463400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:10462800-10463400	Active TSS	Primary T cells from cord blood	blood
43	chr4:10462800-10463400	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr4:10462800-10463400	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr4:10462800-10463400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
46	chr4:10462800-10463400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:10462800-10463400	Bivalent/Poised TSS	NHDF-Ad	bronchial
48	chr4:10462800-10463600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:10462800-10463600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:10462800-10463600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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