Variant report

Variant	rs73376524
Chromosome Location	chr21:46335425-46335426
allele	C/T
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	POLR2A	chr21:46335244-46335514	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:46235995..46238519-chr21:46334920..46337119,2	MCF-7	breast:
2	chr21:46335301..46338086-chr21:46339561..46342546,4	K562	blood:
3	chr21:46238172..46240580-chr21:46333314..46335686,2	K562	blood:
4	chr21:46218603..46223147-chr21:46334757..46337645,5	MCF-7	breast:

Variant related genes	Relation type
ITGB2	TF binding region
ENSG00000184900	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000227039	Chromatin interaction
ENSG00000236519	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2026881	1.00[AMR][1000 genomes]
rs73374592	1.00[AMR][1000 genomes]
rs73374602	1.00[AMR][1000 genomes]
rs73376506	1.00[AMR][1000 genomes]
rs73376519	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv470908	chr21:46298869-46335580	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46295600-46338800	Weak transcription	Right Atrium	heart
2	chr21:46331200-46335800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr21:46331400-46335800	Enhancers	Spleen	Spleen
4	chr21:46331400-46336800	Weak transcription	HSMMtube	muscle
5	chr21:46332200-46336400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr21:46332200-46338800	Weak transcription	Pancreas	Pancrea
7	chr21:46332200-46339800	Weak transcription	Lung	lung
8	chr21:46332400-46337000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr21:46332400-46337000	Weak transcription	HSMM	muscle
10	chr21:46332400-46337400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr21:46333000-46335600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr21:46333000-46336400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr21:46333200-46335600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr21:46333200-46335800	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr21:46333200-46335800	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr21:46333200-46335800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr21:46333400-46335600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr21:46333600-46335600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr21:46333600-46337400	Enhancers	HUVEC	blood vessel
20	chr21:46333600-46338200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:46333800-46335600	Weak transcription	Stomach Mucosa	stomach
22	chr21:46333800-46335800	Enhancers	Dnd41	blood
23	chr21:46333800-46338200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr21:46333800-46338800	Weak transcription	Gastric	stomach
25	chr21:46334000-46335600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr21:46334200-46337000	Weak transcription	Fetal Muscle Leg	muscle
27	chr21:46334400-46337000	Weak transcription	Fetal Intestine Small	intestine
28	chr21:46334400-46337800	Enhancers	NHEK	skin
29	chr21:46334400-46338800	Weak transcription	Esophagus	oesophagus
30	chr21:46334400-46339200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr21:46334600-46336800	Weak transcription	A549	lung
32	chr21:46334600-46337000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr21:46334800-46335600	Genic enhancers	Thymus	Thymus
34	chr21:46334800-46335800	Enhancers	HepG2	liver
35	chr21:46334800-46337000	Enhancers	Fetal Thymus	thymus
36	chr21:46334800-46337000	Weak transcription	GM12878-XiMat	blood
37	chr21:46334800-46337200	Weak transcription	Fetal Intestine Large	intestine
38	chr21:46335000-46335600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr21:46335000-46336200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr21:46335000-46337000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr21:46335000-46337000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr21:46335000-46337400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr21:46335200-46335600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr21:46335200-46337000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr21:46335200-46338000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr21:46335200-46338600	Genic enhancers	Primary B cells from peripheral blood	blood
47	chr21:46335400-46335600	Enhancers	H9 Cell Line	embryonic stem cell
48	chr21:46335400-46335600	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
49	chr21:46335400-46335600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
50	chr21:46335400-46335600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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