Variant report

Variant	rs341056
Chromosome Location	chr11:72387902-72387903
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	REST	chr11:72387842-72388159	U87	brain:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022
2	CTCF	chr11:72387900-72388050	HCPEpiC	choroid plexus:	n/a	n/a
3	REST	chr11:72387473-72388533	GM12878	blood:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022
4	REST	chr11:72387026-72388666	PFSK-1	brain:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022 chr11:72387086-72387099
5	REST	chr11:72387312-72388724	PFSK-1	brain:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022
6	POLR2A	chr11:72387859-72388553	GM12878	blood:	n/a	n/a
7	MXI1	chr11:72387675-72388347	IMR90	lung:	n/a	n/a
8	GABPA	chr11:72387856-72388148	K562	blood:	n/a	n/a
9	GABPA	chr11:72387766-72388204	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3AK20	chr11:72387879-72388125	K562	blood:	n/a	n/a
11	REST	chr11:72387614-72388470	HCT-116	colon:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022
12	FOXP2	chr11:72387823-72388085	SK-N-MC	brain:	n/a	n/a
13	REST	chr11:72387411-72388610	K562	blood:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022
14	REST	chr11:72387870-72388105	SK-N-SH	brain:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022
15	REST	chr11:72387279-72388727	A549	lung:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022
16	ZBTB7A	chr11:72387837-72388088	K562	blood:	n/a	n/a
17	POLR2A	chr11:72383681-72388671	HepG2	liver:	n/a	n/a
18	MXI1	chr11:72387848-72388168	H1-hESC	embryonic stem cell:	n/a	n/a
19	SIN3AK20	chr11:72387830-72388163	H1-hESC	embryonic stem cell:	n/a	n/a
20	REST	chr11:72387718-72388294	SK-N-SH	brain:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022
21	REST	chr11:72387803-72388323	HepG2	liver:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022
22	REST	chr11:72387495-72388616	ECC-1	luminal epithelium:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022
23	REST	chr11:72387820-72388204	PFSK-1	brain:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022
24	ZNF143	chr11:72387890-72388090	K562	blood:	n/a	n/a
25	REST	chr11:72387823-72388159	U87	brain:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022
26	MAX	chr11:72387811-72388202	K562	blood:	n/a	chr11:72387989-72387999
27	POLR2A	chr11:72387846-72388567	Hela-S3	cervix:	n/a	n/a
28	REST	chr11:72387834-72388176	GM12878	blood:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022
29	TCF12	chr11:72387748-72388253	ECC-1	luminal epithelium:	n/a	n/a
30	MAX	chr11:72387815-72388168	NB4	blood:	n/a	chr11:72387989-72387999
31	REST	chr11:72387307-72388775	HL-60	blood:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022
32	REST	chr11:72387274-72388653	PANC-1	pancreas:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022
33	REST	chr11:72387787-72388546	GM12878	blood:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022
34	POLR2A	chr11:72385808-72388645	GM12891	blood:	n/a	n/a
35	REST	chr11:72387578-72388602	MCF-7	breast:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022
36	REST	chr11:72387708-72388424	K562	blood:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022
37	POLR2A	chr11:72387893-72388671	GM12891	blood:	n/a	n/a
38	ZNF143	chr11:72387832-72388285	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr11:72387555-72388026	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:72386878-72388544	A549	lung:	n/a	n/a
41	REST	chr11:72387790-72388214	SK-N-SH	brain:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022
42	REST	chr11:72387845-72388224	GM12878	blood:	n/a	chr11:72388010-72388020 chr11:72388003-72388021 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388002-72388022 chr11:72388008-72388022
43	SIN3AK20	chr11:72387868-72388099	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr11:72387800-72388464	H1-hESC	embryonic stem cell:	n/a	n/a
45	HDAC2	chr11:72387760-72388181	H1-hESC	embryonic stem cell:	n/a	chr11:72388002-72388021
46	BACH1	chr11:72387824-72388184	H1-hESC	embryonic stem cell:	n/a	n/a
47	E2F4	chr11:72387864-72388064	MCF10A-Er-Src	breast:	n/a	chr11:72388054-72388063 chr11:72387980-72387990
48	MAX	chr11:72387786-72388213	H1-hESC	embryonic stem cell:	n/a	chr11:72387989-72387999
49	RUNX3	chr11:72387814-72388046	GM12878	blood:	n/a	n/a
50	SP4	chr11:72387810-72388260	H1-hESC	embryonic stem cell:	n/a	chr11:72387981-72387997

No.	Distal block	Cell Line	Cell type
1	chr11:72385732..72388389-chr11:72491916..72494267,2	MCF-7	breast:
2	chr11:72386670..72389230-chr11:72394217..72396573,2	MCF-7	breast:
3	chr11:72386808..72388323-chr11:72393446..72395639,2	K562	blood:
4	chr11:72384074..72385585-chr11:72386422..72389331,2	K562	blood:
5	chr11:72384986..72386563-chr11:72386586..72388092,2	MCF-7	breast:
6	chr11:72379111..72381270-chr11:72386262..72388515,2	MCF-7	breast:

Variant related genes	Relation type
PDE2A	TF binding region
ENSG00000256007	Chromatin interaction
ENSG00000214530	Chromatin interaction
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1785213	1.00[EUR][1000 genomes]
rs236908	1.00[EUR][1000 genomes]
rs4944643	1.00[EUR][1000 genomes]
rs58006230	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72380600-72395400	Weak transcription	Right Atrium	heart
2	chr11:72385400-72388400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:72385400-72388600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:72385400-72394600	Weak transcription	Gastric	stomach
5	chr11:72386000-72388000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
6	chr11:72386000-72388600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:72386400-72388600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr11:72387000-72388000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
9	chr11:72387200-72388000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr11:72387200-72388000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
11	chr11:72387200-72388200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
12	chr11:72387200-72388400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:72387200-72388600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr11:72387200-72388600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:72387200-72388600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:72387200-72388600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr11:72387200-72388600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr11:72387400-72388200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr11:72387400-72388200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:72387400-72388200	Enhancers	Brain Angular Gyrus	brain
21	chr11:72387400-72388400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:72387400-72388800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:72387600-72388000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
24	chr11:72387600-72388000	Bivalent Enhancer	Primary B cells from cord blood	blood
25	chr11:72387600-72388000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
26	chr11:72387600-72388000	Enhancers	Brain Cingulate Gyrus	brain
27	chr11:72387600-72388000	Weak transcription	Lung	lung
28	chr11:72387600-72388200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:72387600-72388200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr11:72387600-72388200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
31	chr11:72387600-72388600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr11:72387600-72388600	Enhancers	Right Ventricle	heart
33	chr11:72387800-72388000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
34	chr11:72387800-72388000	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr11:72387800-72388000	Enhancers	Brain Substantia Nigra	brain
36	chr11:72387800-72388000	Bivalent Enhancer	HSMM	muscle
37	chr11:72387800-72388200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:72387800-72388200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr11:72387800-72388200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:72387800-72388200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:72387800-72388200	Bivalent Enhancer	Adipose Nuclei	Adipose
42	chr11:72387800-72388200	Bivalent Enhancer	Placenta	Placenta
43	chr11:72387800-72388200	Bivalent Enhancer	Left Ventricle	heart
44	chr11:72387800-72388400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr11:72387800-72388400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr11:72387800-72388400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:72387800-72388400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr11:72387800-72388600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
49	chr11:72387800-72388600	Bivalent Enhancer	Fetal Intestine Small	intestine
50	chr11:72387800-72388600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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