Variant report

Variant	rs56257457
Chromosome Location	chr21:46317892-46317893
allele	A/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	MAX	chr21:46317521-46318014	ECC-1	luminal epithelium:	n/a	chr21:46317682-46317692
2	MYC	chr21:46317490-46317918	K562	blood:	n/a	chr21:46317682-46317692
3	POLR2A	chr21:46317382-46318234	HL-60	blood:	n/a	n/a
4	MAX	chr21:46317400-46318033	MCF-7	breast:	n/a	chr21:46317682-46317692
5	MAX	chr21:46317451-46317962	ECC-1	luminal epithelium:	n/a	chr21:46317682-46317692
6	MAX	chr21:46317305-46317954	K562	blood:	n/a	chr21:46317682-46317692
7	MAX	chr21:46317400-46317984	MCF-7	breast:	n/a	chr21:46317682-46317692
8	USF1	chr21:46317505-46317928	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr21:46317196-46317902	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:46291242..46294677-chr21:46316286..46321756,7	MCF-7	breast:
2	chr21:46316977..46318505-chr21:46320167..46321939,2	K562	blood:
3	chr21:46311571..46315571-chr21:46316327..46319914,4	K562	blood:
4	chr21:46227093..46229223-chr21:46316542..46319041,2	K562	blood:
5	chr21:46317185..46319970-chr21:46346756..46348344,2	K562	blood:
6	chr21:46312645..46315833-chr21:46316053..46319388,3	K562	blood:

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

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2838728	0.81[ASN][1000 genomes]
rs4818740	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55678595	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 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	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	nsv817935	chr21:46311264-46323731	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
25	nsv459302	chr21:46311264-46327835	Genic enhancers Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
26	nsv587817	chr21:46311264-46327835	Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
27	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
28	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56257457	ITGB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46295600-46338800	Weak transcription	Right Atrium	heart
2	chr21:46298400-46326600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:46305400-46322400	Strong transcription	Dnd41	blood
4	chr21:46305400-46325000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr21:46305800-46318800	Weak transcription	Gastric	stomach
6	chr21:46306000-46318400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr21:46313800-46324800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr21:46313800-46326600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr21:46313800-46326800	Strong transcription	Fetal Thymus	thymus
10	chr21:46314200-46323000	Strong transcription	Thymus	Thymus
11	chr21:46314400-46318000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr21:46314400-46322200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr21:46314400-46330200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr21:46314600-46324800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr21:46314800-46321800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr21:46315000-46321600	Weak transcription	Liver	Liver
17	chr21:46315200-46321800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr21:46315800-46322400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr21:46316000-46318400	Enhancers	K562	blood
20	chr21:46316000-46319600	Strong transcription	Primary B cells from cord blood	blood
21	chr21:46316000-46324400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr21:46316200-46318400	Enhancers	Placenta	Placenta
23	chr21:46316200-46318600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr21:46316200-46319400	Genic enhancers	Monocytes-CD14+_RO01746	blood
25	chr21:46316200-46319600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr21:46316400-46318000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:46316400-46318400	Genic enhancers	Spleen	Spleen
28	chr21:46316400-46324000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr21:46316600-46319400	Genic enhancers	Primary monocytes fromperipheralblood	blood
30	chr21:46316600-46327200	Strong transcription	Primary T cells from cord blood	blood
31	chr21:46316800-46318000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr21:46316800-46318000	Enhancers	Duodenum Mucosa	Duodenum
33	chr21:46316800-46319400	Enhancers	Fetal Intestine Small	intestine
34	chr21:46317000-46318200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr21:46317000-46318400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr21:46317200-46318200	Genic enhancers	Lung	lung
37	chr21:46317200-46318200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr21:46317200-46318200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr21:46317200-46318200	Enhancers	Stomach Mucosa	stomach
40	chr21:46317200-46318200	Enhancers	HepG2	liver
41	chr21:46317200-46319200	Enhancers	Fetal Intestine Large	intestine
42	chr21:46317200-46324800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
43	chr21:46317400-46318000	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr21:46317400-46318200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr21:46317400-46318200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr21:46317400-46318200	Genic enhancers	Primary B cells from peripheral blood	blood
47	chr21:46317400-46318800	Enhancers	Colonic Mucosa	Colon
48	chr21:46317600-46318000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr21:46317600-46318000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr21:46317600-46318000	Enhancers	Esophagus	oesophagus

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