Variant report

Variant	rs534987118
Chromosome Location	chr11:64481685-64481686
allele	-/ACCC
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	chr11:64481481-64482087	HL-60	blood:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
2	REST	chr11:64481456-64481950	PFSK-1	brain:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
3	REST	chr11:64481541-64481906	A549	lung:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
4	REST	chr11:64481644-64481800	GM12878	blood:	n/a	chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
5	REST	chr11:64481332-64481989	PANC-1	pancreas:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
6	REST	chr11:64481643-64481800	HepG2	liver:	n/a	chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
7	REST	chr11:64481462-64481967	ECC-1	luminal epithelium:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
8	REST	chr11:64481359-64482008	PFSK-1	brain:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
9	REST	chr11:64481344-64481940	H1-hESC	embryonic stem cell:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
10	REST	chr11:64481545-64481835	Hela-S3	cervix:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
11	REST	chr11:64481291-64482004	A549	lung:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
12	REST	chr11:64481469-64482022	ECC-1	luminal epithelium:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
13	ZBTB7A	chr11:64481630-64481832	K562	blood:	n/a	n/a
14	REST	chr11:64481506-64481874	Hela-S3	cervix:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
15	REST	chr11:64481606-64481800	SK-N-SH	brain:	n/a	chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
16	REST	chr11:64481562-64481883	K562	blood:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
17	REST	chr11:64481594-64481827	K562	blood:	n/a	chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
18	ZNF143	chr11:64481370-64481794	H1-hESC	embryonic stem cell:	n/a	n/a
19	REST	chr11:64481555-64481901	MCF-7	breast:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
20	REST	chr11:64481295-64481983	PANC-1	pancreas:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
21	REST	chr11:64481332-64481905	PANC-1	pancreas:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
22	REST	chr11:64481661-64481792	PANC-1	pancreas:	n/a	chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
23	REST	chr11:64481598-64481844	SK-N-SH	brain:	n/a	chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
24	REST	chr11:64481413-64481991	HL-60	blood:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
25	REST	chr11:64481274-64482128	H1-hESC	embryonic stem cell:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
26	REST	chr11:64481585-64481840	PANC-1	pancreas:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
27	SIN3A	chr11:64481350-64481901	H1-hESC	embryonic stem cell:	n/a	chr11:64481593-64481607 chr11:64481736-64481749
28	REST	chr11:64481646-64481772	GM12878	blood:	n/a	chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
29	REST	chr11:64481446-64481881	GM12878	blood:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749

No.	Distal block	Cell Line	Cell type
1	chr11:64478005..64481824-chr11:64534394..64538447,4	K562	blood:
2	chr11:64480253..64481992-chr11:64507131..64509338,2	K562	blood:
3	chr11:64478235..64481230-chr11:64481654..64484135,2	K562	blood:

Variant related genes	Relation type
NRXN2	TF binding region
ENSG00000068831	Chromatin interaction
ENSG00000110076	Chromatin interaction
ENSG00000168066	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv468596	chr11:64334114-64527080	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv555195	chr11:64334114-64527080	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
7	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
8	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
10	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
12	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
14	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription 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 target site	82 gene(s)	inside rSNPs	diseases
15	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
16	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
17	nsv359	chr11:64477008-64502873	Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
18	nsv555202	chr11:64477050-64573589	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
19	nsv468597	chr11:64477050-64584959	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
20	nsv468598	chr11:64477050-64584959	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
21	nsv555203	chr11:64477050-64584959	Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
22	esv3436229	chr11:64478776-64483074	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	esv3405891	chr11:64479801-64482349	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	esv3433769	chr11:64480376-64482224	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64479600-64481800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr11:64480000-64481800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr11:64480400-64481800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:64480400-64489800	Enhancers	Fetal Brain Male	brain
5	chr11:64480800-64482200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:64481000-64481800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:64481000-64481800	Enhancers	Brain Cingulate Gyrus	brain
8	chr11:64481000-64481800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr11:64481000-64481800	Bivalent Enhancer	Spleen	Spleen
10	chr11:64481200-64482200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:64481200-64485000	Flanking Active TSS	Brain Germinal Matrix	brain
12	chr11:64481400-64481800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr11:64481400-64481800	Enhancers	Brain Angular Gyrus	brain
14	chr11:64481400-64481800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr11:64481400-64481800	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr11:64481400-64481800	Bivalent Enhancer	Right Ventricle	heart
17	chr11:64481400-64482000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr11:64481600-64481800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr11:64481600-64481800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr11:64481600-64481800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:64481600-64481800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:64481600-64481800	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
23	chr11:64481600-64482000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:64481600-64482000	Enhancers	Fetal Brain Female	brain
25	chr11:64481600-64482200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:64481600-64482200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
27	chr11:64481600-64482400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr11:64481600-64482400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:64481600-64482600	Enhancers	Brain Substantia Nigra	brain
30	chr11:64481600-64483000	Enhancers	Brain Anterior Caudate	brain
31	chr11:64481600-64484600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
32	chr11:64481600-64485000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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