Variant report

Variant	rs71468666
Chromosome Location	chr11:64046990-64046991
allele	-/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	CTCF	chr11:64046846-64047027	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64046688..64048904-chr11:64060394..64063372,2	MCF-7	breast:
2	chr11:63992951..63995163-chr11:64045482..64048307,2	MCF-7	breast:
3	chr11:64032072..64048684-chr11:64048768..64055711,68	MCF-7	breast:
4	chr11:64041759..64043917-chr11:64044859..64047497,2	MCF-7	breast:

Variant related genes	Relation type
GPR137	TF binding region
ENSG00000149743	Chromatin interaction
ENSG00000002330	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000149761	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 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	esv3332894	chr11:64046901-64049149	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
26	esv1693268	chr11:64046989-64046990	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64039600-64049000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:64039600-64050400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:64039600-64050800	Weak transcription	Psoas Muscle	Psoas
4	chr11:64039600-64051000	Weak transcription	Fetal Kidney	kidney
5	chr11:64039600-64051000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:64039600-64051400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:64039600-64051400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:64039600-64051600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:64039800-64049000	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:64039800-64050000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:64039800-64050800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:64039800-64051000	Weak transcription	Primary B cells from cord blood	blood
13	chr11:64039800-64051000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:64039800-64051000	Weak transcription	HSMM	muscle
15	chr11:64039800-64051000	Weak transcription	HUVEC	blood vessel
16	chr11:64039800-64051400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:64040000-64049000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:64040000-64050600	Strong transcription	Fetal Stomach	stomach
19	chr11:64040000-64050800	Weak transcription	Fetal Brain Male	brain
20	chr11:64040000-64051200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:64040200-64047400	Strong transcription	Fetal Muscle Leg	muscle
22	chr11:64040200-64047600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:64040200-64051400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:64040400-64050600	Weak transcription	GM12878-XiMat	blood
25	chr11:64040400-64051000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:64041400-64051000	Weak transcription	HepG2	liver
27	chr11:64041600-64047200	Strong transcription	Fetal Intestine Small	intestine
28	chr11:64042200-64047200	Genic enhancers	Placenta	Placenta
29	chr11:64042200-64050800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:64042400-64047000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:64042400-64047000	Strong transcription	Brain Germinal Matrix	brain
32	chr11:64042400-64047000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr11:64042400-64050600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:64042600-64047000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:64042600-64047000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:64042600-64047000	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr11:64042600-64047000	Strong transcription	Fetal Lung	lung
38	chr11:64042600-64047000	Strong transcription	Lung	lung
39	chr11:64042600-64047200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:64042600-64047200	Strong transcription	Liver	Liver
41	chr11:64042600-64047400	Strong transcription	Brain Anterior Caudate	brain
42	chr11:64042600-64047400	Strong transcription	Fetal Thymus	thymus
43	chr11:64042600-64050800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr11:64042800-64047000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:64042800-64047000	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:64043000-64047000	Strong transcription	Fetal Intestine Large	intestine
47	chr11:64043000-64047400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:64043200-64047000	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:64043400-64047200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:64043400-64051200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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