Variant report

Variant	rs556407568
Chromosome Location	chr11:63803177-63803178
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	POLR2A	chr11:63802923-63803446	H1-neurons	neurons:	n/a	n/a
2	MAZ	chr11:63802679-63805093	IMR90	lung:	n/a	chr11:63803069-63803079 chr11:63804263-63804273 chr11:63803964-63803974
3	POLR2A	chr11:63802737-63803442	H1-neurons	neurons:	n/a	n/a
4	EGR1	chr11:63803034-63803363	K562	blood:	n/a	chr11:63803077-63803090 chr11:63803081-63803091
5	ZBTB7A	chr11:63802947-63803183	K562	blood:	n/a	n/a
6	MXI1	chr11:63803167-63804704	SK-N-SH	brain:	n/a	chr11:63804000-63804009
7	EGR1	chr11:63803020-63803258	K562	blood:	n/a	chr11:63803077-63803090 chr11:63803081-63803091

Variant related genes	Relation type
ENSG00000256824	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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	100 gene(s)	inside rSNPs	diseases
2	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh 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	46 gene(s)	inside rSNPs	diseases
4	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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	254 gene(s)	inside rSNPs	diseases
5	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1042075	chr11:63732454-63813164	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS 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 target site	31 gene(s)	inside rSNPs	diseases
8	esv29993	chr11:63738642-63864211	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv897640	chr11:63744152-63835611	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv897641	chr11:63744152-63844683	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv897642	chr11:63744152-63866959	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
13	nsv897643	chr11:63754986-63844683	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	nsv897644	chr11:63754986-63849330	Bivalent Enhancer Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
15	nsv897645	chr11:63754986-63859751	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS 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	245 gene(s)	inside rSNPs	diseases
17	nsv897647	chr11:63755961-63835611	Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
18	nsv897649	chr11:63761169-63844683	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
19	nsv897650	chr11:63761169-63849330	Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
20	nsv897651	chr11:63761169-63863405	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
21	nsv897652	chr11:63761169-63866959	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
22	nsv897653	chr11:63761169-63875456	Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
23	nsv897654	chr11:63772000-63875456	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
24	nsv897655	chr11:63783352-63844683	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
25	nsv468591	chr11:63787389-63849812	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
26	nsv555182	chr11:63787389-63849812	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
27	nsv832184	chr11:63787702-63925084	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
28	nsv897656	chr11:63797679-63844683	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
29	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
30	esv3421107	chr11:63802001-63804549	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
31	esv3384021	chr11:63802326-63804424	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
32	esv3325045	chr11:63802601-63805349	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63786600-63858000	Weak transcription	Hela-S3	cervix
2	chr11:63802200-63803200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:63802400-63803400	Enhancers	Pancreas	Pancrea
4	chr11:63802600-63803200	Enhancers	Liver	Liver
5	chr11:63802600-63803200	Enhancers	Left Ventricle	heart
6	chr11:63802600-63803800	Bivalent Enhancer	Adipose Nuclei	Adipose
7	chr11:63802600-63804400	Bivalent Enhancer	Spleen	Spleen
8	chr11:63802600-63804600	Active TSS	Brain Anterior Caudate	brain
9	chr11:63802800-63803200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
10	chr11:63802800-63803200	Bivalent Enhancer	Small Intestine	intestine
11	chr11:63802800-63804000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:63802800-63804000	Enhancers	Lung	lung
13	chr11:63802800-63804200	Active TSS	Right Ventricle	heart
14	chr11:63802800-63804400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:63802800-63804600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr11:63802800-63804600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr11:63802800-63804600	Active TSS	Right Atrium	heart
18	chr11:63802800-63804800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr11:63802800-63805000	Active TSS	Brain Cingulate Gyrus	brain
20	chr11:63802800-63805200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr11:63803000-63803200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:63803000-63803200	Active TSS	Primary hematopoietic stem cells	blood
23	chr11:63803000-63803200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:63803000-63803200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr11:63803000-63803400	Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr11:63803000-63803400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:63803000-63803400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:63803000-63803400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:63803000-63803400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:63803000-63803400	Bivalent Enhancer	Colonic Mucosa	Colon
31	chr11:63803000-63803400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr11:63803000-63803400	Active TSS	HepG2	liver
33	chr11:63803000-63803600	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
34	chr11:63803000-63803600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:63803000-63803600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:63803000-63803600	Weak transcription	Brain Substantia Nigra	brain
37	chr11:63803000-63803800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:63803000-63803800	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr11:63803000-63803800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:63803000-63803800	Active TSS	Stomach Smooth Muscle	stomach
41	chr11:63803000-63804000	Active TSS	Fetal Brain Female	brain
42	chr11:63803000-63804200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
43	chr11:63803000-63804200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:63803000-63804200	Active TSS	Muscle Satellite Cultured Cells	--
45	chr11:63803000-63804200	Active TSS	Brain Hippocampus Middle	brain
46	chr11:63803000-63804200	Active TSS	Psoas Muscle	Psoas
47	chr11:63803000-63804200	Active TSS	HSMM	muscle
48	chr11:63803000-63804400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:63803000-63804400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
50	chr11:63803000-63804400	Active TSS	Brain Germinal Matrix	brain

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