Variant report

Variant	rs549855593
Chromosome Location	chr11:64059300-64059301
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	SUZ12	chr11:64058028-64060943	NT2-D1	testis:	n/a	n/a
2	EGR1	chr11:64059286-64059750	K562	blood:	n/a	chr11:64059637-64059647 chr11:64059548-64059558 chr11:64059635-64059648 chr11:64059693-64059707 chr11:64059592-64059601 chr11:64059695-64059705 chr11:64059501-64059523 chr11:64059348-64059358
3	PAX5	chr11:64059219-64059752	GM12892	blood:	n/a	chr11:64059392-64059411
4	SUZ12	chr11:64058751-64061073	H1-hESC	embryonic stem cell:	n/a	n/a
5	GABPA	chr11:64058729-64059312	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTBP2	chr11:64058361-64059911	H1-hESC	embryonic stem cell:	n/a	n/a
7	MXI1	chr11:64058325-64060172	SK-N-SH	brain:	n/a	n/a
8	REST	chr11:64059157-64059995	H1-neurons	neurons:	n/a	chr11:64059816-64059829 chr11:64059881-64059894
9	MXI1	chr11:64059169-64059899	IMR90	lung:	n/a	n/a
10	POLR2A	chr11:64058881-64059938	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr11:64058882-64060134	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64003822..64006272-chr11:64058913..64060452,2	MCF-7	breast:
2	chr11:64033188..64045448-chr11:64059274..64075790,38	MCF-7	breast:
3	chr11:64013225..64015116-chr11:64056938..64059333,2	MCF-7	breast:
4	chr11:64058435..64061008-chr11:64080225..64081908,2	K562	blood:
5	chr11:63973628..63976272-chr11:64056827..64059574,2	MCF-7	breast:
6	chr11:64012590..64014829-chr11:64057902..64059525,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207024	TF binding region
KCNK4	TF binding region
ENSG00000149781	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000256940	Chromatin interaction
ENSG00000173511	Chromatin interaction
ENSG00000002330	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000173457	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
6	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
7	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
8	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS 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 miRNA target site	237 gene(s)	inside rSNPs	diseases
10	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
11	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
12	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
13	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
14	nsv897667	chr11:63964657-64078380	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
15	nsv897668	chr11:63964657-64085298	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
16	nsv897669	chr11:63964657-64089874	Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
17	nsv897670	chr11:63964657-64097233	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
18	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
19	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' 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	180 gene(s)	inside rSNPs	diseases
20	nsv897672	chr11:63979643-64082807	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS 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	140 gene(s)	inside rSNPs	diseases
21	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
22	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
23	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
24	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
25	nsv897684	chr11:64047360-64060976	Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
26	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
27	nsv897686	chr11:64049021-64072244	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
28	nsv897687	chr11:64049021-64078380	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
29	esv3399639	chr11:64057076-64061574	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
30	esv3395260	chr11:64058601-64061149	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64058200-64060200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:64058200-64061600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:64058400-64060000	Bivalent/Poised TSS	Fetal Brain Female	brain
4	chr11:64058400-64060200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:64058400-64060400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr11:64058400-64060600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:64058600-64059400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:64058600-64059400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:64058600-64059400	Weak transcription	Brain Substantia Nigra	brain
10	chr11:64058600-64059400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
11	chr11:64058600-64059800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:64058600-64059800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:64058600-64060200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr11:64058600-64060200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr11:64058600-64060200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr11:64058600-64060400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
17	chr11:64058600-64063200	Weak transcription	Hela-S3	cervix
18	chr11:64058800-64059400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr11:64058800-64059400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:64058800-64059400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
21	chr11:64058800-64059400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:64058800-64059400	Bivalent Enhancer	Left Ventricle	heart
23	chr11:64058800-64059400	Active TSS	Ovary	ovary
24	chr11:64058800-64060000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr11:64058800-64060000	Bivalent Enhancer	Primary B cells from cord blood	blood
26	chr11:64058800-64060000	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr11:64058800-64060000	Flanking Active TSS	Right Ventricle	heart
28	chr11:64058800-64060000	Enhancers	Spleen	Spleen
29	chr11:64058800-64060200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr11:64058800-64060200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:64058800-64060200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:64058800-64060200	Enhancers	Liver	Liver
33	chr11:64058800-64060200	Enhancers	Pancreas	Pancrea
34	chr11:64058800-64060400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:64058800-64060400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:64058800-64060400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
37	chr11:64058800-64060400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:64058800-64060400	Active TSS	Brain Angular Gyrus	brain
39	chr11:64058800-64060400	Active TSS	Brain Anterior Caudate	brain
40	chr11:64058800-64060400	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr11:64059000-64059400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:64059000-64059400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
43	chr11:64059000-64059400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:64059000-64059400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:64059000-64059400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
46	chr11:64059000-64059400	Active TSS	Right Atrium	heart
47	chr11:64059000-64059400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
48	chr11:64059000-64059800	Active TSS	Brain Cingulate Gyrus	brain
49	chr11:64059000-64059800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
50	chr11:64059000-64059800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet

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