Variant report

Variant	rs73376557
Chromosome Location	chr21:46343806-46343807
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	SPI1	chr21:46343382-46343842	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:46219525..46221833-chr21:46341963..46344587,2	MCF-7	breast:
2	chr21:46343078..46344938-chr21:46492574..46495227,2	K562	blood:
3	chr21:46343730..46345463-chr21:46747714..46750243,2	MCF-7	breast:
4	chr21:46235394..46237991-chr21:46340879..46344165,3	K562	blood:

Variant related genes	Relation type
ITGB2	TF binding region
ENSG00000197381	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000268856	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs2838748	1.00[EUR][1000 genomes]
rs55633511	1.00[EUR][1000 genomes]
rs55705724	1.00[EUR][1000 genomes]
rs55775492	1.00[EUR][1000 genomes]
rs55989453	1.00[EUR][1000 genomes]
rs56283815	1.00[EUR][1000 genomes]
rs56297608	1.00[EUR][1000 genomes]
rs57677709	1.00[EUR][1000 genomes]
rs58184639	1.00[EUR][1000 genomes]
rs58929845	1.00[EUR][1000 genomes]
rs58951027	1.00[EUR][1000 genomes]
rs58977945	1.00[EUR][1000 genomes]
rs59163354	1.00[EUR][1000 genomes]
rs59226008	1.00[EUR][1000 genomes]
rs59267673	1.00[EUR][1000 genomes]
rs59281465	1.00[EUR][1000 genomes]
rs59318141	1.00[EUR][1000 genomes]
rs59444929	1.00[EUR][1000 genomes]
rs59573927	1.00[EUR][1000 genomes]
rs59730475	1.00[EUR][1000 genomes]
rs60088468	1.00[EUR][1000 genomes]
rs60725487	1.00[EUR][1000 genomes]
rs7276874	1.00[EUR][1000 genomes]
rs7277529	1.00[EUR][1000 genomes]
rs7278296	1.00[EUR][1000 genomes]
rs7278617	1.00[EUR][1000 genomes]
rs7283338	1.00[EUR][1000 genomes]
rs7283630	1.00[EUR][1000 genomes]
rs73906965	1.00[EUR][1000 genomes]
rs73906966	1.00[EUR][1000 genomes]
rs73906968	1.00[EUR][1000 genomes]
rs73906970	1.00[EUR][1000 genomes]
rs73906971	1.00[EUR][1000 genomes]
rs73906974	1.00[EUR][1000 genomes]
rs73906981	1.00[EUR][1000 genomes]
rs73906983	1.00[EUR][1000 genomes]
rs73906984	1.00[EUR][1000 genomes]
rs73906985	1.00[EUR][1000 genomes]
rs73907002	1.00[EUR][1000 genomes]
rs73909903	1.00[EUR][1000 genomes]
rs73909905	1.00[EUR][1000 genomes]
rs73909906	1.00[EUR][1000 genomes]
rs73909911	1.00[EUR][1000 genomes]
rs8127517	1.00[EUR][1000 genomes]
rs8129398	1.00[EUR][1000 genomes]
rs8130143	1.00[EUR][1000 genomes]
rs8130435	1.00[EUR][1000 genomes]
rs8134047	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	32 gene(s)	inside rSNPs	diseases
3	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	31 gene(s)	inside rSNPs	diseases
4	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv933240	chr21:46305956-46371518	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv913974	chr21:46306161-46430792	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
9	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
10	nsv1064518	chr21:46317690-46413159	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv913977	chr21:46335761-46454391	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv913978	chr21:46335761-46466674	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv913979	chr21:46335761-46472929	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv913980	chr21:46337565-46454391	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46338000-46344400	Weak transcription	HSMM	muscle
2	chr21:46340600-46351400	Weak transcription	Right Atrium	heart
3	chr21:46340800-46344400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr21:46340800-46344600	Weak transcription	Esophagus	oesophagus
5	chr21:46340800-46345800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr21:46340800-46346800	Weak transcription	Pancreas	Pancrea
7	chr21:46341000-46346400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr21:46341200-46346200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr21:46341200-46346200	Weak transcription	Liver	Liver
10	chr21:46341400-46344400	Weak transcription	Brain Anterior Caudate	brain
11	chr21:46341400-46346200	Weak transcription	Spleen	Spleen
12	chr21:46341400-46346800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:46341600-46344400	Weak transcription	Thymus	Thymus
14	chr21:46341600-46345600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr21:46341600-46346200	Enhancers	Fetal Thymus	thymus
16	chr21:46341600-46346400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr21:46341600-46347000	Enhancers	Primary B cells from peripheral blood	blood
18	chr21:46341800-46346200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr21:46342000-46344400	Weak transcription	Dnd41	blood
20	chr21:46342000-46344600	Weak transcription	GM12878-XiMat	blood
21	chr21:46342000-46346400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr21:46342200-46346400	Enhancers	Primary hematopoietic stem cells	blood
23	chr21:46342600-46344200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr21:46342600-46344600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr21:46342600-46345400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:46342800-46346200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:46343000-46345400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr21:46343000-46346600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr21:46343200-46344000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr21:46343200-46344200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr21:46343200-46344200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr21:46343200-46344600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr21:46343200-46346400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr21:46343400-46344400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr21:46343800-46344000	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr21:46343800-46344000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr21:46343800-46344400	Enhancers	Primary T cells from cord blood	blood
38	chr21:46343800-46346000	Enhancers	Primary T cells fromperipheralblood	blood
39	chr21:46343800-46349400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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