Variant report

Variant	rs7126790
Chromosome Location	chr11:72384890-72384891
allele	C/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	REST	chr11:72384622-72384983	K562	blood:	n/a	n/a
2	POLR2A	chr11:72384794-72385240	GM12891	blood:	n/a	n/a
3	REST	chr11:72384359-72385347	HL-60	blood:	n/a	chr11:72385099-72385107 chr11:72385299-72385312
4	REST	chr11:72384496-72385012	PANC-1	pancreas:	n/a	n/a
5	REST	chr11:72384671-72384897	HepG2	liver:	n/a	n/a
6	ZNF143	chr11:72384649-72384967	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr11:72384538-72385044	HL-60	blood:	n/a	n/a
8	ZNF263	chr11:72384856-72385925	HEK293-T-REx	kidney:	n/a	chr11:72385036-72385045 chr11:72385506-72385515 chr11:72385513-72385522 chr11:72385500-72385521 chr11:72385466-72385475
9	REST	chr11:72384620-72384979	Hela-S3	cervix:	n/a	n/a
10	REST	chr11:72384410-72385375	H1-hESC	embryonic stem cell:	n/a	chr11:72385099-72385107 chr11:72385299-72385312
11	REST	chr11:72384555-72384912	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr11:72383681-72388671	HepG2	liver:	n/a	n/a
13	REST	chr11:72384506-72385108	MCF-7	breast:	n/a	chr11:72385099-72385107
14	REST	chr11:72384607-72384942	HepG2	liver:	n/a	n/a
15	REST	chr11:72384493-72385871	H1-neurons	neurons:	n/a	chr11:72385099-72385107 chr11:72385462-72385475 chr11:72385299-72385312
16	POLR2A	chr11:72384822-72385200	Hela-S3	cervix:	n/a	n/a
17	REST	chr11:72384560-72385307	K562	blood:	n/a	chr11:72385099-72385107
18	REST	chr11:72384298-72385137	PFSK-1	brain:	n/a	chr11:72385099-72385107
19	REST	chr11:72384417-72385060	MCF-7	breast:	n/a	n/a
20	MAX	chr11:72384618-72385361	H1-hESC	embryonic stem cell:	n/a	chr11:72385071-72385081
21	REST	chr11:72384521-72385047	SK-N-SH	brain:	n/a	n/a
22	REST	chr11:72384558-72384992	Hela-S3	cervix:	n/a	n/a
23	REST	chr11:72384677-72384973	U87	brain:	n/a	n/a
24	REST	chr11:72384542-72385079	PANC-1	pancreas:	n/a	n/a
25	REST	chr11:72384582-72384995	HCT-116	colon:	n/a	n/a
26	REST	chr11:72384675-72384973	U87	brain:	n/a	n/a
27	REST	chr11:72384265-72385646	PFSK-1	brain:	n/a	chr11:72385099-72385107 chr11:72385462-72385475 chr11:72385299-72385312
28	POLR2A	chr11:72384810-72384968	H1-hESC	embryonic stem cell:	n/a	n/a
29	SIN3AK20	chr11:72384681-72384933	H1-hESC	embryonic stem cell:	n/a	n/a
30	REST	chr11:72384531-72384990	HCT-116	colon:	n/a	n/a
31	REST	chr11:72384394-72385226	A549	lung:	n/a	chr11:72385099-72385107
32	SIN3A	chr11:72384623-72385529	H1-hESC	embryonic stem cell:	n/a	chr11:72385072-72385081
33	REST	chr11:72384384-72385694	H1-hESC	embryonic stem cell:	n/a	chr11:72385099-72385107 chr11:72385462-72385475 chr11:72385299-72385312
34	REST	chr11:72384501-72385139	GM12878	blood:	n/a	chr11:72385099-72385107
35	REST	chr11:72384511-72384985	A549	lung:	n/a	n/a
36	REST	chr11:72384569-72384949	SK-N-SH	brain:	n/a	n/a
37	MXI1	chr11:72384678-72385240	H1-hESC	embryonic stem cell:	n/a	chr11:72385072-72385081
38	REST	chr11:72384592-72384968	PFSK-1	brain:	n/a	n/a
39	REST	chr11:72384671-72384925	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr11:72383180-72385482	MCF10A-Er-Src	breast:	n/a	n/a
41	REST	chr11:72384687-72384912	GM12878	blood:	n/a	n/a
42	CHD2	chr11:72384702-72384961	H1-hESC	embryonic stem cell:	n/a	n/a
43	MXI1	chr11:72383907-72385878	SK-N-SH	brain:	n/a	chr11:72385072-72385081
44	REST	chr11:72384539-72384965	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72352379..72355272-chr11:72384070..72386668,2	K562	blood:

Variant related genes	Relation type
PDE2A	TF binding region
ENSG00000255808	Chromatin interaction
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11235556	0.80[ASN][1000 genomes]
rs11235557	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11235558	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11235559	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12146545	0.81[ASN][1000 genomes]
rs12362256	0.90[ASN][1000 genomes]
rs12363065	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12576046	0.92[ASN][1000 genomes]
rs12576058	0.92[ASN][1000 genomes]
rs12786302	0.91[ASN][1000 genomes]
rs12787293	0.92[ASN][1000 genomes]
rs12797368	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12799451	0.92[ASN][1000 genomes]
rs12802369	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12804316	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1391888	0.81[ASN][1000 genomes]
rs163694	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs168175	0.88[ASN][1000 genomes]
rs1872126	0.91[ASN][1000 genomes]
rs189332	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2035467	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2037030	0.91[ASN][1000 genomes]
rs2306609	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs341053	0.91[ASN][1000 genomes]
rs341060	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs341061	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs341062	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34142547	0.92[ASN][1000 genomes]
rs342322	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34285624	0.92[ASN][1000 genomes]
rs34802028	0.92[ASN][1000 genomes]
rs35748558	0.92[ASN][1000 genomes]
rs3758934	0.97[ASN][1000 genomes]
rs3758935	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3758936	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3781913	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3781916	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs900613	0.82[ASN][1000 genomes]
rs900614	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs900615	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs907853	0.80[ASN][1000 genomes]
rs907854	0.80[ASN][1000 genomes]
rs907856	0.82[ASN][1000 genomes]
rs907857	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs907858	0.82[ASN][1000 genomes]
rs932074	0.81[ASN][1000 genomes]
rs932075	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
4	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS 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	11 gene(s)	inside rSNPs	diseases
6	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72380600-72395400	Weak transcription	Right Atrium	heart
2	chr11:72381000-72385000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:72383400-72385400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
4	chr11:72383600-72385800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
5	chr11:72383800-72385800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
6	chr11:72384000-72385000	Active TSS	Brain Germinal Matrix	brain
7	chr11:72384000-72385200	Flanking Active TSS	Fetal Brain Male	brain
8	chr11:72384000-72385400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
9	chr11:72384000-72385600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
10	chr11:72384000-72385800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:72384200-72385400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:72384200-72385800	Active TSS	Fetal Brain Female	brain
13	chr11:72384400-72385000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:72384400-72385000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:72384800-72385000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr11:72384800-72385000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:72384800-72385000	Bivalent Enhancer	Spleen	Spleen
18	chr11:72384800-72385200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:72384800-72385200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
20	chr11:72384800-72385400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr11:72384800-72385400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
22	chr11:72384800-72385400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr11:72384800-72385400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr11:72384800-72385400	Enhancers	Gastric	stomach
25	chr11:72384800-72385600	Active TSS	H9 Cell Line	embryonic stem cell
26	chr11:72384800-72385600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:72384800-72385600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr11:72384800-72385600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr11:72384800-72385600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr11:72384800-72385600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
31	chr11:72384800-72385800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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