Variant report

Variant	rs552303108
Chromosome Location	chr11:46354288-46354289
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	PBX3	chr11:46353945-46354569	SK-N-SH	brain:	n/a	chr11:46354235-46354244 chr11:46354257-46354266 chr11:46354112-46354132
2	TEAD4	chr11:46353988-46354366	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr11:46353888-46354367	H1-hESC	embryonic stem cell:	n/a	n/a
4	EGR1	chr11:46353962-46354360	K562	blood:	n/a	chr11:46354135-46354145 chr11:46354134-46354147 chr11:46354133-46354147 chr11:46354135-46354145 chr11:46354135-46354144 chr11:46354134-46354147 chr11:46354292-46354305 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354131-46354145 chr11:46354133-46354148
5	MAX	chr11:46353944-46355326	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:46353944-46355483	H1-neurons	neurons:	n/a	n/a
7	TCF3	chr11:46354112-46354490	GM12878	blood:	n/a	n/a
8	REST	chr11:46353902-46355520	H1-neurons	neurons:	n/a	chr11:46354643-46354656 chr11:46354637-46354650
9	ZBTB7A	chr11:46353909-46354879	ECC-1	luminal epithelium:	n/a	chr11:46354306-46354317
10	EGR1	chr11:46353926-46354396	H1-hESC	embryonic stem cell:	n/a	chr11:46354135-46354145 chr11:46354134-46354147 chr11:46354133-46354147 chr11:46354135-46354145 chr11:46354135-46354144 chr11:46354134-46354147 chr11:46354292-46354305 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354131-46354145 chr11:46354133-46354148
11	POLR2A	chr11:46353935-46355419	H1-neurons	neurons:	n/a	n/a
12	ZBTB7A	chr11:46353870-46355198	ECC-1	luminal epithelium:	n/a	chr11:46354306-46354317
13	EGR1	chr11:46353960-46354340	K562	blood:	n/a	chr11:46354135-46354145 chr11:46354134-46354147 chr11:46354133-46354147 chr11:46354135-46354145 chr11:46354135-46354144 chr11:46354134-46354147 chr11:46354292-46354305 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354131-46354145 chr11:46354133-46354148
14	EGR1	chr11:46353970-46354331	ECC-1	luminal epithelium:	n/a	chr11:46354135-46354145 chr11:46354134-46354147 chr11:46354133-46354147 chr11:46354135-46354145 chr11:46354135-46354144 chr11:46354134-46354147 chr11:46354292-46354305 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354131-46354145 chr11:46354133-46354148
15	PBX3	chr11:46354093-46354363	GM12878	blood:	n/a	chr11:46354235-46354244 chr11:46354257-46354266 chr11:46354112-46354132
16	CTBP2	chr11:46353813-46354480	H1-hESC	embryonic stem cell:	n/a	n/a
17	ZBTB7A	chr11:46353986-46354442	K562	blood:	n/a	chr11:46354306-46354317
18	SIN3AK20	chr11:46353922-46354377	H1-hESC	embryonic stem cell:	n/a	n/a
19	E2F6	chr11:46353940-46354436	H1-hESC	embryonic stem cell:	n/a	chr11:46354244-46354253 chr11:46354418-46354427
20	MAZ	chr11:46354148-46354330	K562	blood:	n/a	n/a
21	TCF12	chr11:46354099-46354350	GM12878	blood:	n/a	chr11:46354154-46354161
22	EBF1	chr11:46354076-46354319	GM12878	blood:	n/a	n/a
23	EGR1	chr11:46353872-46354380	ECC-1	luminal epithelium:	n/a	chr11:46354135-46354145 chr11:46354134-46354147 chr11:46354133-46354147 chr11:46354135-46354145 chr11:46354135-46354144 chr11:46354134-46354147 chr11:46354292-46354305 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354131-46354145 chr11:46354133-46354148
24	SIN3A	chr11:46353932-46355222	H1-hESC	embryonic stem cell:	n/a	chr11:46354411-46354422 chr11:46355132-46355141 chr11:46354643-46354656

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46334610..46337424-chr11:46352781..46354879,2	K562	blood:
2	chr11:46352485..46355160-chr11:46382549..46384847,2	MCF-7	breast:

Variant related genes	Relation type
DGKZ	TF binding region
ENSG00000149091	Chromatin interaction
ENSG00000157613	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	esv3345003	chr11:46353526-46356074	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46349800-46357400	Weak transcription	Hela-S3	cervix
2	chr11:46351600-46354400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:46351800-46354400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
4	chr11:46352200-46354400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr11:46352200-46354400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr11:46352400-46354400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:46352400-46354400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:46353200-46356000	Enhancers	Spleen	Spleen
9	chr11:46353600-46354400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
10	chr11:46353600-46354400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr11:46353600-46354800	Bivalent Enhancer	Dnd41	blood
12	chr11:46353600-46355800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:46353800-46354400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:46353800-46354400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:46353800-46354400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:46353800-46354400	Bivalent Enhancer	Fetal Brain Male	brain
17	chr11:46353800-46354400	Flanking Active TSS	Fetal Thymus	thymus
18	chr11:46353800-46354600	Bivalent Enhancer	Esophagus	oesophagus
19	chr11:46353800-46354800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
20	chr11:46353800-46355400	Enhancers	Fetal Heart	heart
21	chr11:46354000-46354400	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr11:46354000-46354400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
23	chr11:46354000-46354400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
24	chr11:46354000-46354400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:46354000-46354400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
26	chr11:46354000-46354400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr11:46354000-46354400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
28	chr11:46354000-46354400	Flanking Bivalent TSS/Enh	Placenta	Placenta
29	chr11:46354000-46354400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
30	chr11:46354000-46354400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
31	chr11:46354000-46354400	Flanking Active TSS	Right Ventricle	heart
32	chr11:46354000-46354400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
33	chr11:46354000-46354400	Flanking Active TSS	Thymus	Thymus
34	chr11:46354000-46354600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:46354000-46354600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:46354000-46354600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:46354000-46354600	Enhancers	Gastric	stomach
38	chr11:46354000-46354600	Bivalent Enhancer	GM12878-XiMat	blood
39	chr11:46354000-46354800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:46354000-46354800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
41	chr11:46354000-46354800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
42	chr11:46354000-46355000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr11:46354000-46355000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
44	chr11:46354000-46355200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr11:46354000-46355200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr11:46354000-46355200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:46354000-46355200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
48	chr11:46354000-46355200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr11:46354000-46355200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:46354000-46355200	Bivalent Enhancer	Liver	Liver

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