Variant report

Variant	rs34675004
Chromosome Location	chr21:46310669-46310670
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr21:46310095-46310729	SK-N-SH	brain:	n/a	n/a
2	MAX	chr21:46310122-46310789	HepG2	liver:	n/a	chr21:46310526-46310536
3	POLR2A	chr21:46309034-46311177	GM18505	blood:	n/a	n/a
4	POLR2A	chr21:46307920-46311140	GM12892	blood:	n/a	n/a
5	POLR2A	chr21:46307163-46310950	GM12878	blood:	n/a	n/a
6	POLR2A	chr21:46310108-46310673	GM12892	blood:	n/a	n/a
7	POLR2A	chr21:46308938-46311718	GM12878	blood:	n/a	n/a
8	POLR2A	chr21:46308198-46312270	HL-60	blood:	n/a	n/a
9	MAX	chr21:46310188-46310739	HepG2	liver:	n/a	chr21:46310526-46310536

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46236519..46238760-chr21:46309714..46312621,3	MCF-7	breast:
2	chr21:46285482..46288366-chr21:46310550..46312529,2	K562	blood:
3	chr21:46282547..46285422-chr21:46309419..46311568,2	K562	blood:
4	chr21:46308445..46311760-chr21:46312994..46317779,5	MCF-7	breast:
5	chr21:46288400..46294755-chr21:46304910..46312238,10	K562	blood:
6	chr21:46292148..46294278-chr21:46308549..46311972,5	MCF-7	breast:
7	chr21:46302013..46304883-chr21:46310101..46313045,3	K562	blood:
8	chr21:46305916..46307497-chr21:46310208..46311979,2	K562	blood:
9	chr21:46297404..46300174-chr21:46309190..46311154,2	MCF-7	breast:
10	chr21:46308444..46311023-chr21:46311109..46314097,2	K562	blood:

No data

Variant related genes	Relation type
ITGB2	TF binding region
ENSG00000160255	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000183255	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1970054	0.96[ASN][1000 genomes]
rs2230529	0.98[ASN][1000 genomes]
rs2838725	0.90[ASN][1000 genomes]
rs2838726	0.96[ASN][1000 genomes]
rs2838727	0.86[ASN][1000 genomes]
rs3788142	0.82[ASN][1000 genomes]
rs55965820	0.94[ASN][1000 genomes]
rs7281466	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9979014	0.86[ASN][1000 genomes]

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	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	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS 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	34 gene(s)	inside rSNPs	diseases
5	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1060233	chr21:46254075-46323401	Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription 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 miRNA target site	21 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv544479	chr21:46280467-46323401	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv459299	chr21:46283669-46311264	Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
12	nsv459300	chr21:46283669-46311264	Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
13	nsv587814	chr21:46283669-46311264	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	nsv913971	chr21:46306161-46322487	Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
18	nsv459301	chr21:46306161-46322853	Bivalent Enhancer Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
19	nsv587815	chr21:46306161-46322853	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
20	nsv913972	chr21:46306161-46322853	Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
21	nsv516593	chr21:46306161-46323731	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
22	nsv913973	chr21:46306161-46323731	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
23	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
24	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
25	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
26	nsv587816	chr21:46307495-46322853	Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46295600-46338800	Weak transcription	Right Atrium	heart
2	chr21:46298400-46326600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:46303000-46310800	Weak transcription	Fetal Intestine Small	intestine
4	chr21:46304600-46313000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr21:46305400-46311600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr21:46305400-46312000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr21:46305400-46312200	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr21:46305400-46312200	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr21:46305400-46312200	Strong transcription	Fetal Thymus	thymus
10	chr21:46305400-46312600	Strong transcription	Primary T cells from cord blood	blood
11	chr21:46305400-46312600	Strong transcription	Thymus	Thymus
12	chr21:46305400-46312800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr21:46305400-46312800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr21:46305400-46315000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr21:46305400-46315800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr21:46305400-46316600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr21:46305400-46322400	Strong transcription	Dnd41	blood
18	chr21:46305400-46325000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr21:46305600-46311800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr21:46305600-46311800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr21:46305800-46318800	Weak transcription	Gastric	stomach
22	chr21:46306000-46318400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr21:46306400-46317200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr21:46307000-46317600	Weak transcription	GM12878-XiMat	blood
25	chr21:46307200-46312000	Genic enhancers	Spleen	Spleen
26	chr21:46308000-46311200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr21:46308200-46311800	Strong transcription	Lung	lung
28	chr21:46308200-46312600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr21:46308400-46311200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr21:46308600-46311200	Enhancers	Esophagus	oesophagus
31	chr21:46308800-46316800	Weak transcription	Right Ventricle	heart
32	chr21:46309200-46312000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr21:46309400-46310800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr21:46309400-46311200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr21:46309400-46312200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr21:46309600-46312600	Weak transcription	Primary B cells from cord blood	blood
37	chr21:46309800-46311200	Strong transcription	Primary hematopoietic stem cells	blood
38	chr21:46310000-46311200	Enhancers	HMEC	breast
39	chr21:46310000-46311800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
40	chr21:46310200-46311000	Bivalent Enhancer	NHEK	skin
41	chr21:46310200-46311200	Flanking Active TSS	HepG2	liver
42	chr21:46310200-46311400	Enhancers	Liver	Liver
43	chr21:46310200-46313200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr21:46310400-46312800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr21:46310400-46316800	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr21:46310600-46311000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr21:46310600-46311000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin

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