Variant report

Variant	rs55955041
Chromosome Location	chr11:75191413-75191414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr11:75191295-75191614	K562	blood:	n/a	n/a
2	GATA1	chr11:75191179-75191878	K562	blood:	n/a	n/a
3	NFE2	chr11:75191231-75191574	K562	blood:	n/a	chr11:75191387-75191402 chr11:75191349-75191364
4	CBX3	chr11:75191192-75191856	K562	blood:	n/a	n/a
5	JUN	chr11:75191271-75191667	K562	blood:	n/a	n/a
6	CUX1	chr11:75191385-75191668	K562	blood:	n/a	n/a
7	TRIM28	chr11:75191114-75191785	K562	blood:	n/a	n/a
8	MAX	chr11:75191299-75191644	K562	blood:	n/a	n/a
9	CEBPB	chr11:75191268-75191779	K562	blood:	n/a	n/a
10	TAL1	chr11:75191205-75191648	K562	blood:	n/a	n/a
11	NR2F2	chr11:75191197-75191806	K562	blood:	n/a	n/a
12	UBTF	chr11:75191319-75191596	K562	blood:	n/a	n/a
13	YY1	chr11:75191282-75191575	GM12878	blood:	n/a	n/a
14	TEAD4	chr11:75191209-75191744	K562	blood:	n/a	n/a
15	TBL1XR1	chr11:75191352-75191760	K562	blood:	n/a	n/a
16	GATA2	chr11:75191242-75191628	K562	blood:	n/a	n/a
17	CEBPB	chr11:75191251-75191606	K562	blood:	n/a	n/a
18	IRF1	chr11:75191226-75191589	K562	blood:	n/a	n/a
19	RCOR1	chr11:75191123-75191880	K562	blood:	n/a	n/a
20	GATA2	chr11:75191191-75191621	K562	blood:	n/a	n/a
21	NR2F2	chr11:75191105-75191895	K562	blood:	n/a	n/a
22	HDAC2	chr11:75191284-75191546	K562	blood:	n/a	n/a
23	CEBPB	chr11:75191203-75191785	K562	blood:	n/a	n/a
24	HCFC1	chr11:75191279-75191446	K562	blood:	n/a	n/a
25	IRF1	chr11:75191286-75191748	K562	blood:	n/a	n/a
26	POLR2A	chr11:75191229-75191731	K562	blood:	n/a	n/a
27	PAX5	chr11:75191196-75191645	GM12878	blood:	n/a	n/a
28	CBX3	chr11:75191206-75191823	K562	blood:	n/a	n/a
29	CEBPD	chr11:75191223-75191700	K562	blood:	n/a	n/a
30	CCNT2	chr11:75191286-75191660	K562	blood:	n/a	n/a
31	KAP1	chr11:75191041-75191575	K562	blood:	n/a	n/a
32	MYC	chr11:75191223-75191683	K562	blood:	n/a	n/a
33	GATA1	chr11:75191356-75191656	PBDEFetal	blood:	n/a	n/a
34	MAX	chr11:75191238-75191823	K562	blood:	n/a	n/a
35	ZC3H11A	chr11:75191411-75191844	K562	blood:	n/a	n/a
36	TEAD4	chr11:75191184-75191945	K562	blood:	n/a	n/a
37	TBL1XR1	chr11:75191232-75191790	K562	blood:	n/a	n/a
38	STAT5A	chr11:75191156-75191838	K562	blood:	n/a	n/a
39	HEY1	chr11:75191366-75191609	K562	blood:	n/a	n/a
40	JUND	chr11:75191132-75191705	K562	blood:	n/a	n/a
41	ZNF143	chr11:75191285-75191892	K562	blood:	n/a	n/a
42	ARID3A	chr11:75191295-75191873	K562	blood:	n/a	n/a
43	EP300	chr11:75191212-75191882	K562	blood:	n/a	n/a
44	ZMIZ1	chr11:75191276-75191809	K562	blood:	n/a	n/a
45	BACH1	chr11:75191386-75191484	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAFK	chr11:75190878-75191749	K562	blood:	n/a	n/a
47	CEBPD	chr11:75191233-75191862	K562	blood:	n/a	n/a
48	MAFF	chr11:75191199-75191665	K562	blood:	n/a	n/a
49	MAZ	chr11:75191354-75191554	K562	blood:	n/a	n/a
50	GATA1	chr11:75190703-75191766	PBDE	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75190687..75192690-chr11:75199769..75202244,2	MCF-7	breast:
2	chr11:75189305..75191743-chr11:75201483..75203420,3	K562	blood:
3	chr11:75190984..75193901-chr11:75272461..75274225,2	K562	blood:
4	chr11:75189541..75191420-chr11:75235512..75237815,2	K562	blood:
5	chr11:75189920..75194162-chr11:75235512..75239199,3	K562	blood:

No data

Variant related genes	Relation type
GDPD5	TF binding region
ENSG00000158555	Chromatin interaction
ENSG00000149257	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11236444	0.90[EUR][1000 genomes]
rs11600640	0.88[ASN][1000 genomes]
rs2187568	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2276443	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56010007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56207324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56386896	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56412430	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56851635	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61897372	0.85[EUR][1000 genomes]
rs61897374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61897376	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61897380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61897406	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61897411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61897413	0.97[EUR][1000 genomes]
rs61897414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61897415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61897416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61897419	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7125082	0.97[EUR][1000 genomes]
rs7128197	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7131225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73494872	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75182400-75192400	Strong transcription	Fetal Intestine Large	intestine
2	chr11:75187000-75193600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:75187000-75194800	Strong transcription	Fetal Intestine Small	intestine
4	chr11:75187000-75201400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:75187200-75201200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:75187200-75203000	Weak transcription	Primary T cells from cord blood	blood
7	chr11:75187400-75192000	Weak transcription	Thymus	Thymus
8	chr11:75187400-75192200	Strong transcription	HepG2	liver
9	chr11:75187400-75198200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:75187400-75202800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr11:75187400-75202800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:75187400-75202800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:75187400-75203000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:75187600-75192600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr11:75187600-75201000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:75187600-75202000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:75187800-75192800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr11:75187800-75201000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:75188000-75201600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:75188200-75200400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:75188400-75194000	Enhancers	Fetal Brain Male	brain
22	chr11:75188400-75201200	Weak transcription	HSMM	muscle
23	chr11:75188400-75201400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:75188400-75201400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:75188400-75201600	Weak transcription	HSMMtube	muscle
26	chr11:75188600-75193000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:75188600-75201600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr11:75188800-75192200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:75188800-75192200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:75188800-75193800	Weak transcription	Lung	lung
31	chr11:75189000-75192800	Weak transcription	Spleen	Spleen
32	chr11:75189400-75193200	Enhancers	Fetal Brain Female	brain
33	chr11:75190000-75192600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr11:75190000-75193200	Weak transcription	Adipose Nuclei	Adipose
35	chr11:75190000-75194600	Enhancers	Fetal Muscle Leg	muscle
36	chr11:75190200-75192200	Weak transcription	Placenta	Placenta
37	chr11:75190400-75191600	Weak transcription	Left Ventricle	heart
38	chr11:75190400-75199000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:75190400-75199200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:75190400-75207400	Weak transcription	Fetal Stomach	stomach
41	chr11:75190600-75192200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr11:75190800-75201600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:75191000-75193800	Weak transcription	Liver	Liver
44	chr11:75191000-75194000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr11:75191000-75196800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:75191200-75192400	Enhancers	Right Atrium	heart
47	chr11:75191200-75193000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:75191400-75191600	Enhancers	Pancreas	Pancrea
49	chr11:75191400-75191600	Enhancers	Right Ventricle	heart
50	chr11:75191400-75191600	Flanking Active TSS	K562	blood

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