Variant report

Variant	rs371039986
Chromosome Location	chr21:45874720-45874721
allele	A/C
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	MXI1	chr21:45874375-45876412	SK-N-SH	brain:	n/a	chr21:45876304-45876319 chr21:45875953-45875962

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45874301..45877175-chr21:45878479..45881429,3	MCF-7	breast:
2	chr21:45756335..45760049-chr21:45874026..45878349,7	MCF-7	breast:

Variant related genes	Relation type
LRRC3	TF binding region
ENSG00000269430	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000160226	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	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
3	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
4	nsv913911	chr21:45681153-45893907	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv913918	chr21:45697755-45941566	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv913922	chr21:45699404-45893907	Genic enhancers Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv913930	chr21:45700641-45893907	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv913940	chr21:45712588-45893907	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv913941	chr21:45722442-45885589	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv1058359	chr21:45724055-45941566	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
11	nsv1065203	chr21:45731690-45941566	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
12	nsv544473	chr21:45731690-45941566	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
13	nsv913942	chr21:45740823-45941566	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
15	nsv1067264	chr21:45757599-45941566	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
16	nsv544474	chr21:45757599-45941566	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
17	nsv913944	chr21:45757905-45941566	Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
18	nsv1058534	chr21:45812976-45916560	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	nsv587801	chr21:45832912-45916560	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
20	nsv913945	chr21:45837433-45893907	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	nsv913946	chr21:45838632-46031810	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
22	nsv913947	chr21:45852949-45885589	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv913948	chr21:45860912-46031810	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
24	nsv834109	chr21:45869352-45916560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
25	esv3362556	chr21:45874049-45876897	Enhancers Genic enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	esv3395562	chr21:45874349-45876522	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45815800-45874800	Weak transcription	Right Atrium	heart
2	chr21:45869600-45874800	Weak transcription	Colon Smooth Muscle	Colon
3	chr21:45873800-45876800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr21:45874400-45874800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr21:45874400-45874800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr21:45874400-45875000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr21:45874400-45875000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr21:45874400-45875000	ZNF genes & repeats	Spleen	Spleen
9	chr21:45874400-45875600	Active TSS	Primary B cells from cord blood	blood
10	chr21:45874400-45875800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr21:45874400-45875800	Active TSS	Primary T cells from cord blood	blood
12	chr21:45874400-45876600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr21:45874600-45874800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:45874600-45874800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:45874600-45874800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr21:45874600-45874800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr21:45874600-45874800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:45874600-45874800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:45874600-45874800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr21:45874600-45874800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:45874600-45874800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr21:45874600-45874800	ZNF genes & repeats	Fetal Brain Female	brain
23	chr21:45874600-45874800	Enhancers	Ovary	ovary
24	chr21:45874600-45874800	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr21:45874600-45874800	Bivalent/Poised TSS	Thymus	Thymus
26	chr21:45874600-45874800	Bivalent Enhancer	Dnd41	blood
27	chr21:45874600-45874800	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr21:45874600-45875000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr21:45874600-45875000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr21:45874600-45875000	Enhancers	Fetal Heart	heart
31	chr21:45874600-45875200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr21:45874600-45875200	Enhancers	Liver	Liver
33	chr21:45874600-45875200	Enhancers	Fetal Brain Male	brain
34	chr21:45874600-45875400	Enhancers	Primary B cells from peripheral blood	blood
35	chr21:45874600-45875400	Bivalent Enhancer	Fetal Thymus	thymus
36	chr21:45874600-45875800	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr21:45874600-45875800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr21:45874600-45875800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr21:45874600-45875800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr21:45874600-45875800	Active TSS	Left Ventricle	heart
41	chr21:45874600-45876000	Active TSS	H1 Cell Line	embryonic stem cell
42	chr21:45874600-45876000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr21:45874600-45876000	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr21:45874600-45876000	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr21:45874600-45876200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr21:45874600-45876200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr21:45874600-45876200	Active TSS	H9 Cell Line	embryonic stem cell
48	chr21:45874600-45876200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr21:45874600-45876400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr21:45874600-45876600	Active TSS	Rectal Smooth Muscle	rectum

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