Variant report

Variant	rs73376545
Chromosome Location	chr21:46340323-46340324
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	POLR2A	chr21:46339901-46341477	GM12878	blood:	n/a	n/a
2	RUNX3	chr21:46339944-46341037	GM12878	blood:	n/a	n/a
3	CHD2	chr21:46339875-46341216	GM12878	blood:	n/a	n/a
4	POLR2A	chr21:46339932-46341231	GM12891	blood:	n/a	n/a
5	SPI1	chr21:46340320-46341116	GM12891	blood:	n/a	chr21:46340918-46340931 chr21:46340557-46340570 chr21:46340556-46340569 chr21:46340558-46340567
6	POLR2A	chr21:46340002-46340350	MCF-7	breast:	n/a	n/a
7	CTCF	chr21:46340145-46340350	GM12891	blood:	n/a	n/a
8	POLR2A	chr21:46340015-46341293	GM15510	blood:	n/a	n/a
9	POLR2A	chr21:46340068-46340392	GM12878	blood:	n/a	n/a
10	POLR2A	chr21:46340117-46341166	GM19193	blood:	n/a	n/a
11	MYC	chr21:46339320-46341068	NB4	blood:	n/a	chr21:46339873-46339883
12	STAT5A	chr21:46339682-46340361	GM12878	blood:	n/a	n/a
13	CTCF	chr21:46340047-46340356	GM19239	blood:	n/a	n/a
14	ELF1	chr21:46339783-46341435	GM12878	blood:	n/a	n/a
15	POLR2A	chr21:46340020-46341111	Raji	blood:	n/a	n/a
16	EBF1	chr21:46339756-46341537	GM12878	blood:	n/a	chr21:46340962-46340973 chr21:46341403-46341412
17	SPI1	chr21:46340274-46341163	HL-60	blood:	n/a	chr21:46340918-46340931 chr21:46340557-46340570 chr21:46340556-46340569 chr21:46340558-46340567
18	POLR2A	chr21:46339932-46341184	HL-60	blood:	n/a	n/a
19	MAX	chr21:46339891-46341136	NB4	blood:	n/a	n/a
20	MYC	chr21:46340206-46340347	HUVEC	blood vessel:	n/a	n/a
21	RUNX3	chr21:46339979-46341137	GM12878	blood:	n/a	n/a
22	MXI1	chr21:46339615-46341460	GM12878	blood:	n/a	chr21:46339835-46339844
23	CTCF	chr21:46340082-46340356	GM12892	blood:	n/a	n/a
24	MTA3	chr21:46339958-46341148	GM12878	blood:	n/a	n/a
25	MAZ	chr21:46340119-46341537	GM12878	blood:	n/a	n/a
26	POLR2A	chr21:46340004-46341442	GM18505	blood:	n/a	n/a
27	MAX	chr21:46339875-46341362	GM12878	blood:	n/a	n/a
28	CTCF	chr21:46340220-46340370	GM06990	blood:	n/a	n/a
29	PML	chr21:46340075-46341292	GM12878	blood:	n/a	n/a
30	BHLHE40	chr21:46339989-46340375	GM12878	blood:	n/a	n/a
31	NRF1	chr21:46340133-46340434	GM12878	blood:	n/a	n/a
32	WRNIP1	chr21:46339921-46341504	GM12878	blood:	n/a	n/a
33	POLR2A	chr21:46340012-46341193	GM18951	blood:	n/a	n/a
34	MYC	chr21:46340009-46340502	GM12878	blood:	n/a	n/a
35	POLR2A	chr21:46340041-46340336	GM12878	blood:	n/a	n/a
36	POLR2A	chr21:46340009-46341600	GM19099	blood:	n/a	n/a
37	POLR2A	chr21:46340006-46341434	GM12892	blood:	n/a	n/a
38	SIN3A	chr21:46340058-46341209	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46338736..46340337-chr21:46348482..46350188,2	K562	blood:
2	chr21:46329208..46333595-chr21:46335973..46340753,6	K562	blood:

Variant related genes	Relation type
ITGB2-AS1	TF binding region
ENSG00000160255	Chromatin interaction
ENSG00000273027	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2026883	1.00[AMR][1000 genomes]
rs58792764	1.00[AMR][1000 genomes]
rs58838439	1.00[AMR][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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46338000-46344400	Weak transcription	HSMM	muscle
2	chr21:46338400-46340800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr21:46338600-46341000	Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr21:46338600-46341000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
5	chr21:46338600-46341400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:46338800-46340400	Active TSS	Colonic Mucosa	Colon
7	chr21:46338800-46340600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr21:46338800-46340600	Active TSS	Right Atrium	heart
9	chr21:46338800-46340800	Active TSS	Esophagus	oesophagus
10	chr21:46338800-46341000	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr21:46338800-46341400	Active TSS	Brain Anterior Caudate	brain
12	chr21:46338800-46341800	Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr21:46339000-46340800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr21:46339000-46341000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr21:46339000-46341200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr21:46339000-46341600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
17	chr21:46339000-46342600	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr21:46339200-46340600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
19	chr21:46339200-46340800	Transcr. at gene 5' and 3'	Dnd41	blood
20	chr21:46339200-46341000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr21:46339200-46341200	Active TSS	Liver	Liver
22	chr21:46339200-46341200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
23	chr21:46339200-46341400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:46339200-46341400	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr21:46339400-46340400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr21:46339400-46340600	Bivalent/Poised TSS	Placenta	Placenta
27	chr21:46339400-46340800	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr21:46339400-46340800	Bivalent/Poised TSS	Right Ventricle	heart
29	chr21:46339400-46341000	Active TSS	Primary monocytes fromperipheralblood	blood
30	chr21:46339400-46341200	Active TSS	Primary T cells from cord blood	blood
31	chr21:46339400-46341200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
32	chr21:46339400-46341600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr21:46339600-46340800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr21:46339600-46340800	Bivalent/Poised TSS	Fetal Stomach	stomach
35	chr21:46339600-46340800	Active TSS	Left Ventricle	heart
36	chr21:46339600-46340800	Active TSS	Small Intestine	intestine
37	chr21:46339600-46340800	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr21:46339600-46341000	Active TSS	Primary T cells fromperipheralblood	blood
39	chr21:46339600-46341400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
40	chr21:46339800-46340400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
41	chr21:46339800-46340600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
42	chr21:46339800-46340600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
43	chr21:46339800-46340800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
44	chr21:46339800-46340800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr21:46339800-46340800	Active TSS	Gastric	stomach
46	chr21:46339800-46340800	Active TSS	Lung	lung
47	chr21:46339800-46341000	Active TSS	Thymus	Thymus
48	chr21:46339800-46341200	Bivalent Enhancer	HepG2	liver
49	chr21:46339800-46341400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
50	chr21:46340000-46340400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived

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